Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q13702

- RAPSN_HUMAN

UniProt

Q13702 - RAPSN_HUMAN

Protein

43 kDa receptor-associated protein of the synapse

Gene

RAPSN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 4 (17 Apr 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri363 – 40341RING-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. acetylcholine receptor binding Source: MGI
    2. zinc ion binding Source: InterPro

    GO - Biological processi

    1. positive regulation of neuron apoptotic process Source: Ensembl
    2. synaptic transmission Source: ProtInc
    3. synaptic transmission, cholinergic Source: MGI

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    43 kDa receptor-associated protein of the synapse
    Short name:
    RAPsyn
    Alternative name(s):
    43 kDa postsynaptic protein
    Acetylcholine receptor-associated 43 kDa protein
    RING finger protein 205
    Gene namesi
    Name:RAPSN
    Synonyms:RNF205
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:9863. RAPSN.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoskeleton Source: UniProtKB-SubCell
    3. Golgi apparatus Source: Ensembl
    4. neuromuscular junction Source: Ensembl
    5. postsynaptic membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141L → P in CMS-ACHRD. 3 Publications
    VAR_021216
    Natural varianti45 – 451V → M in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043898
    Natural varianti88 – 881N → K in CMS-ACHRD. 7 Publications
    Corresponds to variant rs104894299 [ dbSNP | Ensembl ].
    VAR_021217
    Natural varianti162 – 1621E → K in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043900
    Natural varianti164 – 1641R → C in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043901
    Natural varianti283 – 2831L → P in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043903
    Fetal akinesia deformation sequence (FADS) [MIM:208150]: Rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti139 – 1391F → S in FADS. 1 Publication
    VAR_043899
    Natural varianti189 – 1891A → V in FADS. 1 Publication
    VAR_043902

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi208150. phenotype.
    608931. phenotype.
    Orphaneti994. Fetal akinesia deformation sequence.
    33108. Lethal multiple pterygium syndrome.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBiPA34224.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 41241143 kDa receptor-associated protein of the synapsePRO_0000167591Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycineBy similarity
    Modified residuei196 – 1961PhosphotyrosineSequence Analysis
    Modified residuei405 – 4051PhosphoserineSequence Analysis

    Post-translational modificationi

    Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.1 Publication

    Keywords - PTMi

    Lipoprotein, Myristate, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiQ13702.
    PRIDEiQ13702.

    PTM databases

    PhosphoSiteiQ13702.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13702.
    BgeeiQ13702.
    CleanExiHS_RAPSN.
    GenevestigatoriQ13702.

    Organism-specific databases

    HPAiHPA039475.

    Interactioni

    Protein-protein interaction databases

    BioGridi111848. 5 interactions.
    IntActiQ13702. 2 interactions.
    STRINGi9606.ENSP00000298854.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13702.
    SMRiQ13702. Positions 4-326.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati6 – 3934TPR 1Add
    BLAST
    Repeati83 – 11634TPR 2Add
    BLAST
    Repeati123 – 15634TPR 3Add
    BLAST
    Repeati163 – 19634TPR 4Add
    BLAST
    Repeati206 – 23934TPR 5Add
    BLAST
    Repeati246 – 27934TPR 6Add
    BLAST
    Repeati286 – 31934TPR 7Add
    BLAST

    Domaini

    A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.

    Sequence similaritiesi

    Belongs to the RAPsyn family.Curated
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation
    Contains 7 TPR repeats.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri363 – 40341RING-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, TPR repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG0457.
    HOGENOMiHOG000231395.
    HOVERGENiHBG061484.
    InParanoidiQ13702.
    OMAiEEMELYC.
    PhylomeDBiQ13702.
    TreeFamiTF328344.

    Family and domain databases

    Gene3Di1.25.40.10. 2 hits.
    3.30.40.10. 1 hit.
    InterProiIPR001237. Postsynaptic.
    IPR018293. Postsynaptic_CS.
    IPR019568. Rapsyn_myristoylation/link_N.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF10579. Rapsyn_N. 1 hit.
    PF00515. TPR_1. 1 hit.
    PF13181. TPR_8. 1 hit.
    PF13639. zf-RING_2. 1 hit.
    [Graphical view]
    PRINTSiPR00217. POSTSYNAPTIC.
    SMARTiSM00184. RING. 1 hit.
    SM00028. TPR. 6 hits.
    [Graphical view]
    PROSITEiPS00405. 43_KD_POSTSYNAPTIC. 1 hit.
    PS50005. TPR. 5 hits.
    PS50293. TPR_REGION. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13702-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV    50
    TAHSEMGRYK EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH 100
    KTISYCKTCL GLPGTRAGAQ LGGQVSLSMG NAFLGLSVFQ KALESFEKAL 150
    RYAHNNDDAM LECRVCCSLG SFYAQVKDYE KALFFPCKAA ELVNNYGKGW 200
    SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG DRPLQALCLL 250
    CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK 300
    ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV 350
    RFHECVEETE LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP 400
    NCRRSSMKPG FV 412
    Length:412
    Mass (Da):46,328
    Last modified:April 17, 2007 - v4
    Checksum:iD17AC566700F5AAF
    GO
    Isoform 2 (identifier: Q13702-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         264-322: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:353
    Mass (Da):39,912
    Checksum:i79A95D25A1FAA69A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti112 – 1121L → V in CAA83954. (PubMed:8812503)Curated
    Sequence conflicti159 – 1591A → T in CAA83954. (PubMed:8812503)Curated
    Sequence conflicti205 – 2051R → Q in CAA83954. (PubMed:8812503)Curated
    Sequence conflicti364 – 3641G → A in CAA83954. (PubMed:8812503)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81Q → K.1 Publication
    Corresponds to variant rs11556408 [ dbSNP | Ensembl ].
    VAR_043897
    Natural varianti14 – 141L → P in CMS-ACHRD. 3 Publications
    VAR_021216
    Natural varianti45 – 451V → M in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043898
    Natural varianti81 – 811F → L.
    Corresponds to variant rs57878668 [ dbSNP | Ensembl ].
    VAR_062142
    Natural varianti88 – 881N → K in CMS-ACHRD. 7 Publications
    Corresponds to variant rs104894299 [ dbSNP | Ensembl ].
    VAR_021217
    Natural varianti139 – 1391F → S in FADS. 1 Publication
    VAR_043899
    Natural varianti162 – 1621E → K in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043900
    Natural varianti164 – 1641R → C in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043901
    Natural varianti189 – 1891A → V in FADS. 1 Publication
    VAR_043902
    Natural varianti283 – 2831L → P in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
    VAR_043903

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei264 – 32259Missing in isoform 2. 1 PublicationVSP_005533Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z33905 mRNA. Translation: CAA83954.1.
    AF449218 mRNA. Translation: AAL86639.1.
    CH471064 Genomic DNA. Translation: EAW67914.1.
    BC004196 mRNA. Translation: AAH04196.1.
    CCDSiCCDS7936.1. [Q13702-1]
    CCDS7937.1. [Q13702-2]
    PIRiS45064.
    RefSeqiNP_005046.2. NM_005055.4. [Q13702-1]
    NP_116034.2. NM_032645.4. [Q13702-2]
    UniGeneiHs.81218.

    Genome annotation databases

    EnsembliENST00000298854; ENSP00000298854; ENSG00000165917. [Q13702-1]
    ENST00000352508; ENSP00000298853; ENSG00000165917. [Q13702-2]
    GeneIDi5913.
    KEGGihsa:5913.
    UCSCiuc001nfi.2. human. [Q13702-1]
    uc001nfj.2. human. [Q13702-2]

    Polymorphism databases

    DMDMi145559521.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Z33905 mRNA. Translation: CAA83954.1 .
    AF449218 mRNA. Translation: AAL86639.1 .
    CH471064 Genomic DNA. Translation: EAW67914.1 .
    BC004196 mRNA. Translation: AAH04196.1 .
    CCDSi CCDS7936.1. [Q13702-1 ]
    CCDS7937.1. [Q13702-2 ]
    PIRi S45064.
    RefSeqi NP_005046.2. NM_005055.4. [Q13702-1 ]
    NP_116034.2. NM_032645.4. [Q13702-2 ]
    UniGenei Hs.81218.

    3D structure databases

    ProteinModelPortali Q13702.
    SMRi Q13702. Positions 4-326.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111848. 5 interactions.
    IntActi Q13702. 2 interactions.
    STRINGi 9606.ENSP00000298854.

    Chemistry

    ChEMBLi CHEMBL2163166.

    PTM databases

    PhosphoSitei Q13702.

    Polymorphism databases

    DMDMi 145559521.

    Proteomic databases

    PaxDbi Q13702.
    PRIDEi Q13702.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298854 ; ENSP00000298854 ; ENSG00000165917 . [Q13702-1 ]
    ENST00000352508 ; ENSP00000298853 ; ENSG00000165917 . [Q13702-2 ]
    GeneIDi 5913.
    KEGGi hsa:5913.
    UCSCi uc001nfi.2. human. [Q13702-1 ]
    uc001nfj.2. human. [Q13702-2 ]

    Organism-specific databases

    CTDi 5913.
    GeneCardsi GC11M047459.
    GeneReviewsi RAPSN.
    HGNCi HGNC:9863. RAPSN.
    HPAi HPA039475.
    MIMi 208150. phenotype.
    601592. gene.
    608931. phenotype.
    neXtProti NX_Q13702.
    Orphaneti 994. Fetal akinesia deformation sequence.
    33108. Lethal multiple pterygium syndrome.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA34224.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOGENOMi HOG000231395.
    HOVERGENi HBG061484.
    InParanoidi Q13702.
    OMAi EEMELYC.
    PhylomeDBi Q13702.
    TreeFami TF328344.

    Miscellaneous databases

    GeneWikii RAPSN.
    GenomeRNAii 5913.
    NextBioi 23012.
    PROi Q13702.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13702.
    Bgeei Q13702.
    CleanExi HS_RAPSN.
    Genevestigatori Q13702.

    Family and domain databases

    Gene3Di 1.25.40.10. 2 hits.
    3.30.40.10. 1 hit.
    InterProi IPR001237. Postsynaptic.
    IPR018293. Postsynaptic_CS.
    IPR019568. Rapsyn_myristoylation/link_N.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF10579. Rapsyn_N. 1 hit.
    PF00515. TPR_1. 1 hit.
    PF13181. TPR_8. 1 hit.
    PF13639. zf-RING_2. 1 hit.
    [Graphical view ]
    PRINTSi PR00217. POSTSYNAPTIC.
    SMARTi SM00184. RING. 1 hit.
    SM00028. TPR. 6 hits.
    [Graphical view ]
    PROSITEi PS00405. 43_KD_POSTSYNAPTIC. 1 hit.
    PS50005. TPR. 5 hits.
    PS50293. TPR_REGION. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1."
      Buckel A., Beeson D., James M., Vincent A.
      Genomics 35:613-616(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Muscle.
    2. "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome."
      Ohno K., Engel A.G., Shen X.-M., Selcen D., Brengman J., Harper C.M., Tsujino A., Milone M.
      Am. J. Hum. Genet. 70:875-885(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-8.
      Tissue: Muscle.
    5. "Control of rapsyn stability by the CUL-3-containing E3 ligase complex."
      Nam S., Min K., Hwang H., Lee H.O., Lee J.H., Yoon J., Lee H., Park S., Lee J.
      J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION BY THE BCR(KLHL8) COMPLEX.
    6. "Identification of pathogenic mutations in the human rapsyn gene."
      Dunne V., Maselli R.A.
      J. Hum. Genet. 48:204-207(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
    7. "Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering."
      Maselli R.A., Dunne V., Pascual-Pascual S.I., Bowe C., Agius M., Frank R., Wollmann R.L.
      Muscle Nerve 28:293-301(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
    8. Cited for: VARIANT CMS-ACHRD LYS-88.
    9. "Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes."
      Burke G., Cossins J., Maxwell S., Owens G., Vincent A., Robb S., Nicolle M., Hilton-Jones D., Newsom-Davis J., Palace J., Beeson D.
      Neurology 61:826-828(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMS-ACHRD LYS-88.
    10. "Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine."
      Banwell B.L., Ohno K., Sieb J.P., Engel A.G.
      Neuromuscul. Disord. 14:202-207(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMS-ACHRD LYS-88.
    11. "Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms."
      Ioos C., Barois A., Richard P., Eymard B., Hantai D., Estournet-Mathiaud B.
      Neuropediatrics 35:246-249(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMS-ACHRD LYS-88.
    12. "Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations."
      Mueller J.S., Baumeister S.K., Rasic V.M., Krause S., Todorovic S., Kugler K., Mueller-Felber W., Abicht A., Lochmueller H.
      Neurology 67:1159-1164(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMS-ACHRD CYS-164 AND PRO-283, CHARACTERIZATION OF VARIANTS CMS-ACHRD CYS-164 AND PRO-283.
    13. "Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations."
      Maselli R.A., Dris H., Schnier J., Cockrell J.L., Wollmann R.L.
      Clin. Genet. 72:63-65(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMS-ACHRD MET-45 AND LYS-162, CHARACTERIZATION OF VARIANTS CMS-ACHRD MET-45 AND LYS-162.
    14. "Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients."
      Vogt J., Harrison B.J., Spearman H., Cossins J., Vermeer S., ten Cate L.N., Morgan N.V., Beeson D., Maher E.R.
      Am. J. Hum. Genet. 82:222-227(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FADS.
    15. Cited for: VARIANTS FADS SER-139 AND VAL-189.

    Entry informationi

    Entry nameiRAPSN_HUMAN
    AccessioniPrimary (citable) accession number: Q13702
    Secondary accession number(s): Q8TDF3, Q9BTD9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: April 17, 2007
    Last modified: October 1, 2014
    This is version 152 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3