UniProtKB - P01185 (NEU2_HUMAN)
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- BLAST>sp|P01185|NEU2_HUMAN Vasopressin-neurophysin 2-copeptin OS=Homo sapiens OX=9606 GN=AVP PE=1 SV=2 MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCA DELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGF HRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQPDAY
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Vasopressin-neurophysin 2-copeptin
AVP
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.37"Conopressin-T from Conus tulipa reveals an antagonist switch in vasopressin-like peptides."
Dutertre S., Croker D., Daly N.L., Andersson A., Muttenthaler M., Lumsden N.G., Craik D.J., Alewood P.F., Guillon G., Lewis R.J.
J. Biol. Chem. 283:7100-7108(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION OF VASOPRESSIN, MUTAGENESIS OF GLY-28, SUBUNIT.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 28 | Important for agonist activity on V1aR/AVPR1A1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- cysteine-type endopeptidase inhibitor activity involved in apoptotic process Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- neurohypophyseal hormone activity Source: InterPro
- neuropeptide hormone activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- protein kinase activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- signaling receptor binding Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- V1A vasopressin receptor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- V1B vasopressin receptor binding Source: Ensembl
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- cell-cell signaling Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- ERK1 and ERK2 cascade Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- generation of precursor metabolites and energy Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- G-protein coupled receptor signaling pathway Source: Reactome
- grooming behavior Source: Ensembl
- hyperosmotic salinity response Source: Ensembl
- locomotory behavior Source: Ensembl
- maternal aggressive behavior Source: Ensembl
- maternal behavior Source: Ensembl
- membrane organization Source: Reactome
- negative regulation of apoptotic process Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- negative regulation of female receptivity Source: Ensembl
- negative regulation of release of cytochrome c from mitochondria Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- negative regulation of transmission of nerve impulse Source: Ensembl
- penile erection Source: Ensembl
- positive regulation of cell growth Source: Ensembl
- positive regulation of cell proliferation Source: Ensembl
- positive regulation of cellular pH reduction Source: Ensembl
- positive regulation of cytosolic calcium ion concentration Source: Ensembl
- positive regulation of gene expression Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of glutamate secretion Source: Ensembl
- positive regulation of peptidyl-serine phosphorylation Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of prostaglandin biosynthetic process Source: Ensembl
- positive regulation of systemic arterial blood pressure Source: Ensembl
- positive regulation of vasoconstriction Source: Ensembl
- protein kinase C signaling Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- regulation of renal sodium excretion Source: Ensembl
- renal water homeostasis Source: Reactome
- response to ethanol Source: Ensembl
- response to nicotine Source: Ensembl
- response to testosterone Source: Ensembl
- signal transduction Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- social behavior Source: Ensembl
- vasoconstriction Source: UniProtKB-KW
- water transport Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Hormone, Vasoactive, Vasoconstrictor |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression R-HSA-388479 Vasopressin-like receptors R-HSA-416476 G alpha (q) signalling events R-HSA-418555 G alpha (s) signalling events R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-5619099 Defective AVP causes neurohypophyseal diabetes insipidus (NDI) R-HSA-879518 Transport of organic anions R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828 Clathrin-mediated endocytosis R-HSA-9036092 Defective AVP causes neurohypophyseal diabetes insipidus (NDI) |
SIGNOR Signaling Network Open Resource More...SIGNORi | P01185 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Vasopressin-neurophysin 2-copeptinAlternative name(s): AVP-NPII Cleaved into the following 3 chains: Alternative name(s): Arginine-vasopressin Alternative name(s): Neurophysin-II |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:AVP Synonyms:ARVP, VP |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000101200.5 |
Human Gene Nomenclature Database More...HGNCi | HGNC:894 AVP |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 192340 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P01185 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Extracellular region or secreted
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: Ensembl
Other locations
- clathrin-coated vesicle membrane Source: Reactome
- dendrite Source: Ensembl
- secretory granule Source: Ensembl
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Secreted<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Diabetes insipidus, neurohypophyseal (NDI)27 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.4"A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus."
Bahnsen U., Oosting P., Swaab D.F., Nahke P., Richter D., Schmale H.
EMBO J. 11:19-23(1992) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT NDI VAL-48. - Ref.11"Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation."
McLeod J.F., Kovacs L., Gaskill M.B., Rittig S., Bradley G.S., Robertson G.L.
J. Clin. Endocrinol. Metab. 77:599A-599G(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI THR-19. - Ref.12"Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus."
Yuasa H., Ito M., Nagasaki H., Oiso Y., Miyamoto S., Sasaki N., Saito H.
J. Clin. Endocrinol. Metab. 77:600-604(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI GLU-78 DEL. - Ref.13"Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus."
Ito M., Oiso Y., Murase T., Kondo K., Saito H., Chinzei T., Racchi M., Lively M.O.
J. Clin. Invest. 91:2565-2571(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI THR-19. - Ref.14"A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus."
Repaske D.R., Browning J.E.
J. Clin. Endocrinol. Metab. 79:421-427(1994) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI LEU-55. - Ref.15"Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus."
Nagasaki H., Ito M., Yuasa H., Saito H., Fukase M., Hamada K., Ishikawa E., Katakami H., Oiso Y.
J. Clin. Endocrinol. Metab. 80:1352-1356(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI TRP-93. - Ref.16"Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus."
Rittig S., Robertson G.L., Siggaard C., Kovacs L., Gregersen N., Nyborg J., Pedersen E.B.
Am. J. Hum. Genet. 58:107-117(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NDI PHE-17; THR-19; VAL-19; ARG-45; CYS-51; GLY-78; PRO-81; ARG-88; SER-88; SER-92 AND CYS-96. - Ref.17"Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II."
Gagliardi P.C., Bernasconi S., Repaske D.R.
J. Clin. Endocrinol. Metab. 82:3643-3646(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI VAL-54. - Ref.18"Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus."
Calvo B., Bilbao J.R., Urrutia I., Eizaguirre J., Gaztambide S., Castano L.
J. Clin. Endocrinol. Metab. 83:995-997(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI THR-19. - Ref.19"Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant."
Grant F.D., Ahmadi A., Hosley C.M., Majzoub J.A.
J. Clin. Endocrinol. Metab. 83:3958-3964(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NDI PHE-87 AND TYR-92. - Ref.20"Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin."
Willcutts M.D., Felner E., White P.C.
Hum. Mol. Genet. 8:1303-1307(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI LEU-26. - Ref.21"Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier."
Calvo B., Bilbao J.R., Rodriguez A., Rodriguez-Arnao M.D., Castano L.
J. Clin. Endocrinol. Metab. 84:3351-3354(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI ARG-54. - Ref.22"Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus."
Abbes A.P., Bruggeman B., van den Akker E.L.T., de Groot M.R., Franken A.A.M., Drexhage V.R., Engel H.
Clin. Chem. 46:1699-1702(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NDI ARG-116 AND GLY-116. - Ref.23"A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes."
Skordis N., Patsalis P.C., Hettinger J.A., Kontou M., Herakleous E., Krishnamani M.R., Phillips J.A. III
Horm. Res. 53:239-245(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI TYR-59. - Ref.24"Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene."
Fujii H., Iida S., Moriwaki K.
Int. J. Mol. Med. 5:229-234(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI TYR-105. - Ref.25"A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus."
Mundschenk J., Rittig S., Siggaard C., Hensen J., Lehnert H.
Exp. Clin. Endocrinol. Diabetes 109:406-409(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI PRO-97. - Ref.26"Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone."
Nijenhuis M., van den Akker E.L.T., Zalm R., Franken A.A.M., Abbes A.P., Engel H., de Wied D., Burbach J.P.H.
J. Clin. Endocrinol. Metab. 86:3410-3420(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI GLY-116, CHARACTERIZATION OF VARIANT NDI GLY-116. - Ref.27"A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus."
DiMeglio L.A., Gagliardi P.C., Browning J.E., Quigley C.A., Repaske D.R.
Mol. Genet. Metab. 72:39-44(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI GLY-98. - Ref.28"Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene."
Rutishauser J., Kopp P., Gaskill M.B., Kotlar T.J., Robertson G.L.
Eur. J. Endocrinol. 146:649-656(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NDI ARG-54; TYR-92 AND ARG-105. - Ref.29"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus."
Bullmann C., Kotzka J., Grimm T., Heppner C., Jockenhovel F., Krone W., Muller-Wieland D.
Exp. Clin. Endocrinol. Diabetes 110:134-137(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI SER-92. - Ref.30"Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor."
Rittig S., Siggaard C., Ozata M., Yetkin I., Gregersen N., Pedersen E.B., Robertson G.L.
J. Clin. Endocrinol. Metab. 87:3351-3355(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI HIS-21. - Ref.31"A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus."
Santiprabhob J., Browning J.E., Repaske D.R.
Mol. Genet. Metab. 77:112-118(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI PHE-104. - Ref.32"A signal peptide mutation of the arginine vasopressin gene in monozygotic twins."
Boson W.L., Sarubi J.C., D'Alva C.B., Friedman E., Faria D., De Marco L., Wajchenberg B.
Clin. Endocrinol. (Oxf.) 58:108-110(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI THR-19. - Ref.33"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene."
Elias P.C.L., Elias L.L.K., Torres N., Moreira A.C., Antunes-Rodrigues J., Castro M.
Clin. Endocrinol. (Oxf.) 59:511-518(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI PRO-99. - Ref.34"A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus."
Wolf M.T.F., Doetsch J., Metzler M., Holder M., Repp R., Rascher W.
Horm. Res. 60:143-147(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI PHE-58. - Ref.35"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety."
Baglioni S., Corona G., Maggi M., Serio M., Peri A.
Eur. J. Endocrinol. 151:605-611(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NDI SER-98. - Ref.36"Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis."
Christensen J.H., Siggaard C., Corydon T.J., deSanctis L., Kovacs L., Robertson G.L., Gregersen N., Rittig S.
Eur. J. Hum. Genet. 12:44-51(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NDI THR-19; VAL-19; ARG-54; ALA-67; GLY-78; GLU-78 DEL; ASP-96; CYS-96; GLY-104 AND TRP-116.
Bahnsen U., Oosting P., Swaab D.F., Nahke P., Richter D., Schmale H.
EMBO J. 11:19-23(1992) [PubMed] [Europe PMC] [Abstract]
McLeod J.F., Kovacs L., Gaskill M.B., Rittig S., Bradley G.S., Robertson G.L.
J. Clin. Endocrinol. Metab. 77:599A-599G(1993) [PubMed] [Europe PMC] [Abstract]
Yuasa H., Ito M., Nagasaki H., Oiso Y., Miyamoto S., Sasaki N., Saito H.
J. Clin. Endocrinol. Metab. 77:600-604(1993) [PubMed] [Europe PMC] [Abstract]
Ito M., Oiso Y., Murase T., Kondo K., Saito H., Chinzei T., Racchi M., Lively M.O.
J. Clin. Invest. 91:2565-2571(1993) [PubMed] [Europe PMC] [Abstract]
Repaske D.R., Browning J.E.
J. Clin. Endocrinol. Metab. 79:421-427(1994) [PubMed] [Europe PMC] [Abstract]
Nagasaki H., Ito M., Yuasa H., Saito H., Fukase M., Hamada K., Ishikawa E., Katakami H., Oiso Y.
J. Clin. Endocrinol. Metab. 80:1352-1356(1995) [PubMed] [Europe PMC] [Abstract]
Rittig S., Robertson G.L., Siggaard C., Kovacs L., Gregersen N., Nyborg J., Pedersen E.B.
Am. J. Hum. Genet. 58:107-117(1996) [PubMed] [Europe PMC] [Abstract]
Gagliardi P.C., Bernasconi S., Repaske D.R.
J. Clin. Endocrinol. Metab. 82:3643-3646(1997) [PubMed] [Europe PMC] [Abstract]
Calvo B., Bilbao J.R., Urrutia I., Eizaguirre J., Gaztambide S., Castano L.
J. Clin. Endocrinol. Metab. 83:995-997(1998) [PubMed] [Europe PMC] [Abstract]
Grant F.D., Ahmadi A., Hosley C.M., Majzoub J.A.
J. Clin. Endocrinol. Metab. 83:3958-3964(1998) [PubMed] [Europe PMC] [Abstract]
Willcutts M.D., Felner E., White P.C.
Hum. Mol. Genet. 8:1303-1307(1999) [PubMed] [Europe PMC] [Abstract]
Calvo B., Bilbao J.R., Rodriguez A., Rodriguez-Arnao M.D., Castano L.
J. Clin. Endocrinol. Metab. 84:3351-3354(1999) [PubMed] [Europe PMC] [Abstract]
Abbes A.P., Bruggeman B., van den Akker E.L.T., de Groot M.R., Franken A.A.M., Drexhage V.R., Engel H.
Clin. Chem. 46:1699-1702(2000) [PubMed] [Europe PMC] [Abstract]
Skordis N., Patsalis P.C., Hettinger J.A., Kontou M., Herakleous E., Krishnamani M.R., Phillips J.A. III
Horm. Res. 53:239-245(2000) [PubMed] [Europe PMC] [Abstract]
Fujii H., Iida S., Moriwaki K.
Int. J. Mol. Med. 5:229-234(2000) [PubMed] [Europe PMC] [Abstract]
Mundschenk J., Rittig S., Siggaard C., Hensen J., Lehnert H.
Exp. Clin. Endocrinol. Diabetes 109:406-409(2001) [PubMed] [Europe PMC] [Abstract]
Nijenhuis M., van den Akker E.L.T., Zalm R., Franken A.A.M., Abbes A.P., Engel H., de Wied D., Burbach J.P.H.
J. Clin. Endocrinol. Metab. 86:3410-3420(2001) [PubMed] [Europe PMC] [Abstract]
DiMeglio L.A., Gagliardi P.C., Browning J.E., Quigley C.A., Repaske D.R.
Mol. Genet. Metab. 72:39-44(2001) [PubMed] [Europe PMC] [Abstract]
Rutishauser J., Kopp P., Gaskill M.B., Kotlar T.J., Robertson G.L.
Eur. J. Endocrinol. 146:649-656(2002) [PubMed] [Europe PMC] [Abstract]
Bullmann C., Kotzka J., Grimm T., Heppner C., Jockenhovel F., Krone W., Muller-Wieland D.
Exp. Clin. Endocrinol. Diabetes 110:134-137(2002) [PubMed] [Europe PMC] [Abstract]
Rittig S., Siggaard C., Ozata M., Yetkin I., Gregersen N., Pedersen E.B., Robertson G.L.
J. Clin. Endocrinol. Metab. 87:3351-3355(2002) [PubMed] [Europe PMC] [Abstract]
Santiprabhob J., Browning J.E., Repaske D.R.
Mol. Genet. Metab. 77:112-118(2002) [PubMed] [Europe PMC] [Abstract]
Boson W.L., Sarubi J.C., D'Alva C.B., Friedman E., Faria D., De Marco L., Wajchenberg B.
Clin. Endocrinol. (Oxf.) 58:108-110(2003) [PubMed] [Europe PMC] [Abstract]
Elias P.C.L., Elias L.L.K., Torres N., Moreira A.C., Antunes-Rodrigues J., Castro M.
Clin. Endocrinol. (Oxf.) 59:511-518(2003) [PubMed] [Europe PMC] [Abstract]
Wolf M.T.F., Doetsch J., Metzler M., Holder M., Repp R., Rascher W.
Horm. Res. 60:143-147(2003) [PubMed] [Europe PMC] [Abstract]
Baglioni S., Corona G., Maggi M., Serio M., Peri A.
Eur. J. Endocrinol. 151:605-611(2004) [PubMed] [Europe PMC] [Abstract]
Christensen J.H., Siggaard C., Corydon T.J., deSanctis L., Kovacs L., Robertson G.L., Gregersen N., Rittig S.
Eur. J. Hum. Genet. 12:44-51(2004) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004980 | 17 | S → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004981 | 19 | A → T in NDI; probably causes insufficient processing of precursor. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004982 | 19 | A → V in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015262 | 21 | Y → H in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015263 | 26 | P → L in NDI; weakly active. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004983 | 45 | G → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004984 | 48 | G → V in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004985 | 51 | R → C in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015264 | 52 | C → R in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015265 | 54 | G → R in NDI. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015266 | 54 | G → V in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004986 | 55 | P → L in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029997 | 58 | C → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015267 | 59 | C → R in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015268 | 59 | C → Y in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019273 | 67 | V → A in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004988 | 78 | E → G in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004987 | 78 | Missing in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004989 | 81 | L → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015269 | 87 | S → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004990 | 88 | G → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004991 | 88 | G → S in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004992 | 92 | C → S in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015270 | 92 | C → Y in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004993 | 93 | G → W in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004994 | 96 | G → C in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019274 | 96 | G → D in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015271 | 96 | G → V in NDI. Corresponds to variant dbSNP:rs121964886EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015272 | 97 | R → C in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015273 | 97 | R → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015274 | 98 | C → G in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029998 | 98 | C → S in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029999 | 99 | A → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015275 | 104 | C → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019275 | 104 | C → G in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015276 | 105 | C → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015279 | 105 | C → Y in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015277 | 116 | C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015278 | 116 | C → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019276 | 116 | C → W in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 28 | G → V: Gain of antagonist activity on V1aR/AVPR1A (and loss of agonist activity on this receptor). 42-fold decrease in affinity for V1aR/AVPR1A, 2000-fold decrease in affinity for V1bR/AVPR1B, 5-fold decrease in affinity for V2R/AVPR2 and no change in affinity for oxytocin receptor (OXTR). 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Diabetes insipidus, Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 551 |
MalaCards human disease database More...MalaCardsi | AVP |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 125700 phenotype |
Open Targets More...OpenTargetsi | ENSG00000101200 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 30925 Hereditary central diabetes insipidus |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA25186 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | AVP |
Domain mapping of disease mutations (DMDM) More...DMDMi | 128083 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei | 1 – 19 | 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 19 | |
| <p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000020515 | 20 – 28 | Arg-vasopressin1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 9 | |
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000020516 | 32 – 124 | Neurophysin 21 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 93 | |
| <p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000020517 | 126 – 164 | Copeptin1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 39 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 20 ↔ 25 | |||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 28 | Glycine amide1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 41 ↔ 85 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 44 ↔ 58 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 52 ↔ 75 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 59 ↔ 65 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 92 ↔ 104 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 98 ↔ 116 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 105 ↔ 110 | By similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | ||
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi | 131 | N-linked (GlcNAc...) asparagine | 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Amidation, Cleavage on pair of basic residues, Disulfide bond, GlycoproteinProteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P01185 |
PeptideAtlas More...PeptideAtlasi | P01185 |
PRoteomics IDEntifications database More...PRIDEi | P01185 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 51342 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P01185 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P01185 |
Miscellaneous databases
CutDB - Proteolytic event database More...PMAP-CutDBi | P01185 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000101200 |
CleanEx database of gene expression profiles More...CleanExi | HS_AVP |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P01185 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P01185 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | CAB025318 HPA071892 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.37"Conopressin-T from Conus tulipa reveals an antagonist switch in vasopressin-like peptides."
Dutertre S., Croker D., Daly N.L., Andersson A., Muttenthaler M., Lumsden N.G., Craik D.J., Alewood P.F., Guillon G., Lewis R.J.
J. Biol. Chem. 283:7100-7108(2008) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION OF VASOPRESSIN, MUTAGENESIS OF GLY-28, SUBUNIT.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- neurohypophyseal hormone activity Source: InterPro
- neuropeptide hormone activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- signaling receptor binding Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- V1A vasopressin receptor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- V1B vasopressin receptor binding Source: Ensembl
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 107032, 25 interactors |
Protein interaction database and analysis system More...IntActi | P01185, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000369647 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P01185 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P01185 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
SignalPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IXM5 Eukaryota ENOG4111S8B LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000004511 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000113768 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG004462 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P01185 |
KEGG Orthology (KO) More...KOi | K05242 |
Identification of Orthologs from Complete Genome Data More...OMAi | SGLCCNS |
Database of Orthologous Groups More...OrthoDBi | EOG091G0V8Z |
Database for complete collections of gene phylogenies More...PhylomeDBi | P01185 |
TreeFam database of animal gene trees More...TreeFami | TF333018 |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.9.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000981 Neurhyp_horm IPR036387 Neurhyp_horm_dom_sf IPR022423 Neurohypophysial_hormone_CS |
The PANTHER Classification System More...PANTHERi | PTHR11681 PTHR11681, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00220 Hormone_4, 1 hit PF00184 Hormone_5, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF001815 Nonapeptide_hormone_precursor, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00831 NEUROPHYSIN |
ProDom; a protein domain database More...ProDomi | View protein in ProDom or Entries sharing at least one domain PD001676 Neurhyp_horm, 1 hit |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00003 NH, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF49606 SSF49606, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00264 NEUROHYPOPHYS_HORM, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.
10 20 30 40 50
MPDTMLPACF LGLLAFSSAC YFQNCPRGGK RAMSDLELRQ CLPCGPGGKG
60 70 80 90 100
RCFGPSICCA DELGCFVGTA EALRCQEENY LPSPCQSGQK ACGSGGRCAA
110 120 130 140 150
FGVCCNDESC VTEPECREGF HRRARASDRS NATQLDGPAG ALLLRLVQLA
160
GAPEPFEPAQ PDAY
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 11 | L → P in AAA98772 (PubMed:2991279).Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 48 | G → D in AAB86629 (Ref. 5) Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004980 | 17 | S → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004981 | 19 | A → T in NDI; probably causes insufficient processing of precursor. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004982 | 19 | A → V in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015262 | 21 | Y → H in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015263 | 26 | P → L in NDI; weakly active. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004983 | 45 | G → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004984 | 48 | G → V in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004985 | 51 | R → C in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015264 | 52 | C → R in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015265 | 54 | G → R in NDI. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015266 | 54 | G → V in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004986 | 55 | P → L in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029997 | 58 | C → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015267 | 59 | C → R in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015268 | 59 | C → Y in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019273 | 67 | V → A in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004988 | 78 | E → G in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004987 | 78 | Missing in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004989 | 81 | L → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011894 | 82 | P → L. Corresponds to variant dbSNP:rs5195Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015269 | 87 | S → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004990 | 88 | G → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004991 | 88 | G → S in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004992 | 92 | C → S in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015270 | 92 | C → Y in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004993 | 93 | G → W in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_004994 | 96 | G → C in NDI. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019274 | 96 | G → D in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015271 | 96 | G → V in NDI. Corresponds to variant dbSNP:rs121964886EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015272 | 97 | R → C in NDI. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015273 | 97 | R → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015274 | 98 | C → G in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029998 | 98 | C → S in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029999 | 99 | A → P in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015275 | 104 | C → F in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019275 | 104 | C → G in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015276 | 105 | C → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015279 | 105 | C → Y in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015277 | 116 | C → G in NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_015278 | 116 | C → R in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019276 | 116 | C → W in NDI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011895 | 119 | G → V1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M11166 Genomic DNA Translation: AAA98772.1 M25647 mRNA Translation: AAA61291.1 X03172 mRNA Translation: CAA26935.1 X62890 Genomic DNA Translation: CAA44681.1 AF031476 mRNA Translation: AAB86629.1 AL160414 Genomic DNA No translation available. X62891 Genomic DNA Translation: CAA44682.1 BC126196 mRNA Translation: AAI26197.1 BC126224 mRNA Translation: AAI26225.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS13045.1 |
Protein sequence database of the Protein Information Resource More...PIRi | A39269 B94676 NVHU2 |
NCBI Reference Sequences More...RefSeqi | NP_000481.2, NM_000490.4 XP_011527569.1, XM_011529267.1 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.89648 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000380293; ENSP00000369647; ENSG00000101200 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 551 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:551 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length |
|---|
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P01185 | Arginine vasopressin (Neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) (Fragment) | 164 | |||
| Vasopressin-neurophysin 2-copeptin | 166 | ||||
| UPI0002C444AC | 166 | ||||
| UPI0003F0AC3E | 166 | ||||
| UPI00042CFDB4 | 166 | ||||
| +17 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P01185 | Arginine vasopressin (Neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) (Fragment) | 164 | |||
| UPI0004420E29 | 166 | ||||
| UPI000950D296 | 166 | ||||
| Vasopressin-neurophysin 2-copeptin | 166 | ||||
| UPI000BB6EAAA | 166 | ||||
| +101 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
| Wikipedia Vasopressin entry |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M11166 Genomic DNA Translation: AAA98772.1 M25647 mRNA Translation: AAA61291.1 X03172 mRNA Translation: CAA26935.1 X62890 Genomic DNA Translation: CAA44681.1 AF031476 mRNA Translation: AAB86629.1 AL160414 Genomic DNA No translation available. X62891 Genomic DNA Translation: CAA44682.1 BC126196 mRNA Translation: AAI26197.1 BC126224 mRNA Translation: AAI26225.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS13045.1 |
Protein sequence database of the Protein Information Resource More...PIRi | A39269 B94676 NVHU2 |
NCBI Reference Sequences More...RefSeqi | NP_000481.2, NM_000490.4 XP_011527569.1, XM_011529267.1 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.89648 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P01185 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P01185 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 107032, 25 interactors |
Protein interaction database and analysis system More...IntActi | P01185, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000369647 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P01185 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P01185 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | AVP |
Domain mapping of disease mutations (DMDM) More...DMDMi | 128083 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P01185 |
PeptideAtlas More...PeptideAtlasi | P01185 |
PRoteomics IDEntifications database More...PRIDEi | P01185 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 51342 |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000380293; ENSP00000369647; ENSG00000101200 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 551 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:551 |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 551 |
DisGeNET More...DisGeNETi | 551 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000101200.5 |
GeneCards: human genes, protein and diseases More...GeneCardsi | AVP |
Human Gene Nomenclature Database More...HGNCi | HGNC:894 AVP |
Human Protein Atlas More...HPAi | CAB025318 HPA071892 |
MalaCards human disease database More...MalaCardsi | AVP |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 125700 phenotype 192340 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P01185 |
Open Targets More...OpenTargetsi | ENSG00000101200 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 30925 Hereditary central diabetes insipidus |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA25186 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IXM5 Eukaryota ENOG4111S8B LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000004511 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000113768 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG004462 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P01185 |
KEGG Orthology (KO) More...KOi | K05242 |
Identification of Orthologs from Complete Genome Data More...OMAi | SGLCCNS |
Database of Orthologous Groups More...OrthoDBi | EOG091G0V8Z |
Database for complete collections of gene phylogenies More...PhylomeDBi | P01185 |
TreeFam database of animal gene trees More...TreeFami | TF333018 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression R-HSA-388479 Vasopressin-like receptors R-HSA-416476 G alpha (q) signalling events R-HSA-418555 G alpha (s) signalling events R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins R-HSA-5619099 Defective AVP causes neurohypophyseal diabetes insipidus (NDI) R-HSA-879518 Transport of organic anions R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828 Clathrin-mediated endocytosis R-HSA-9036092 Defective AVP causes neurohypophyseal diabetes insipidus (NDI) |
SIGNOR Signaling Network Open Resource More...SIGNORi | P01185 |
Miscellaneous databases
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Vasopressin |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 551 |
CutDB - Proteolytic event database More...PMAP-CutDBi | P01185 |
Protein Ontology More...PROi | PR:P01185 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000101200 |
CleanEx database of gene expression profiles More...CleanExi | HS_AVP |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P01185 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P01185 HS |
Family and domain databases
Gene3D Structural and Functional Annotation of Protein Families More...Gene3Di | 2.60.9.10, 1 hit |
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR000981 Neurhyp_horm IPR036387 Neurhyp_horm_dom_sf IPR022423 Neurohypophysial_hormone_CS |
The PANTHER Classification System More...PANTHERi | PTHR11681 PTHR11681, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00220 Hormone_4, 1 hit PF00184 Hormone_5, 1 hit |
PIRSF; a whole-protein classification database More...PIRSFi | PIRSF001815 Nonapeptide_hormone_precursor, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR00831 NEUROPHYSIN |
ProDom; a protein domain database More...ProDomi | View protein in ProDom or Entries sharing at least one domain PD001676 Neurhyp_horm, 1 hit |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM00003 NH, 1 hit |
Superfamily database of structural and functional annotation More...SUPFAMi | SSF49606 SSF49606, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00264 NEUROHYPOPHYS_HORM, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | NEU2_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | P01185Primary (citable) accession number: P01185 Secondary accession number(s): A0AV35, O14935 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
| Last sequence update: | August 1, 1992 | |
| Last modified: | July 18, 2018 | |
| This is version 195 of the entry and version 2 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
