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Entry version 146 (13 Feb 2019)
Sequence version 2 (31 Oct 2006)
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Protein

Teneurin-1

Gene

TENM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

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>

<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

Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity).By similarity
Teneurin C-terminal-associated peptide: Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates the mitogen-activated protein (MAP) kinase 2 (MEK2) and extracellular signal-regulated kinase (ERK) cascade. Acts also as a bioactive neuroprotective peptide on limbic neurons of the brain and regulates stress-induced behavior: attenuates alkalosis-associated necrotic cell death and the effects of corticotropin-releasing factor (CRF) on c-fos/FOS induction and on the reinstatement of cocaine seeking (By similarity).By similarity
Ten-1 intracellular domain: Induces gene transcription activation.By similarity

Miscellaneous

Teneurin C-terminal-associated peptide: Binds to the plasma membrane and may be internalized by a receptor- and caveolae-mediated endocytosis manner to reach cytosolic compartments in a dynamin-dependent manner.By similarity

<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

  • cell adhesion molecule binding Source: GO_Central
  • heparin binding Source: ProtInc
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

<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 functionNeuropeptide, Repressor
Biological processStress response, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9UKZ4

<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:
Teneurin-1
Short name:
Ten-1
Alternative name(s):
Protein Odd Oz/ten-m homolog 1
Tenascin-M1
Short name:
Ten-m1
Teneurin transmembrane protein 1
Cleaved into the following 2 chains:
Ten-1 intracellular domain
Short name:
IDten-1
Short name:
Ten-1 ICD
Alternative name(s):
Ten-1 extracellular domain
Short name:
Ten-1 ECD
<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:TENM1
Synonyms:ODZ1, TNM1
<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>OrganismiHomo 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 identifieri9606 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000009694.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8117 TENM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300588 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UKZ4

<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 Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 324CytoplasmicSequence analysisAdd BLAST324
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei325 – 345HelicalSequence analysisAdd BLAST21
Topological domaini346 – 2725ExtracellularSequence analysisAdd BLAST2380

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Nucleus

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
10178

MalaCards human disease database

More...
MalaCardsi
TENM1

Open Targets

More...
OpenTargetsi
ENSG00000009694

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
88620 Isolated congenital anosmia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31904

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TENM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
117949792

<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 keyPosition(s)DescriptionActionsGraphical viewLength
<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_00002594981 – 2725Teneurin-1Add BLAST2725
ChainiPRO_00004210051 – ?Ten-1 intracellular domainBy similarity
ChainiPRO_00004210062596 – 2725Teneurin C-terminal-associated peptideBy similarityAdd BLAST130

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei105PhosphoserineBy similarity1
Modified residuei109PhosphothreonineBy similarity1
Modified residuei116PhosphoserineBy similarity1
<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>Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi532 ↔ 542PROSITE-ProRule annotation
Disulfide bondi536 ↔ 547PROSITE-ProRule annotation
Disulfide bondi549 ↔ 558PROSITE-ProRule annotation
Disulfide bondi567 ↔ 578PROSITE-ProRule annotation
Disulfide bondi580 ↔ 589PROSITE-ProRule annotation
Disulfide bondi596 ↔ 607PROSITE-ProRule annotation
Disulfide bondi601 ↔ 612PROSITE-ProRule annotation
Disulfide bondi614 ↔ 623PROSITE-ProRule annotation
Disulfide bondi628 ↔ 639PROSITE-ProRule annotation
Disulfide bondi633 ↔ 644PROSITE-ProRule annotation
Disulfide bondi646 ↔ 655PROSITE-ProRule annotation
Disulfide bondi666 ↔ 679PROSITE-ProRule annotation
Disulfide bondi681 ↔ 690PROSITE-ProRule annotation
Disulfide bondi695 ↔ 705PROSITE-ProRule annotation
Disulfide bondi699 ↔ 710PROSITE-ProRule annotation
Disulfide bondi712 ↔ 721PROSITE-ProRule annotation
Disulfide bondi726 ↔ 736PROSITE-ProRule annotation
Disulfide bondi730 ↔ 741PROSITE-ProRule annotation
Disulfide bondi743 ↔ 752PROSITE-ProRule annotation
Disulfide bondi765 ↔ 775PROSITE-ProRule annotation
Disulfide bondi769 ↔ 784PROSITE-ProRule annotation
Disulfide bondi786 ↔ 795PROSITE-ProRule annotation
Glycosylationi905N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1084N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1550N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1567N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1663N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1699N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1757N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1781N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1842N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2145N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2285N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei2580PhosphoserineCombined sources1
Glycosylationi2602N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Teneurin C-terminal-associated peptide: Derives from the plasma membrane form by proteolytic processing. Further proteolytic cleavage may be generated (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Sitei2595 – 2596CleavageCurated2

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UKZ4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UKZ4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UKZ4

PeptideAtlas

More...
PeptideAtlasi
Q9UKZ4

PRoteomics IDEntifications database

More...
PRIDEi
Q9UKZ4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84918
84919 [Q9UKZ4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UKZ4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UKZ4

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000009694 Expressed in 160 organ(s), highest expression level in cerebellar vermis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UKZ4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002848

<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

Homodimer; disulfide-linked. Heterodimer with either TENM2 or TENM3. May also form heterodimer with TENM4. Ten-1 ICD interacts with SORBS1 (via third SH3 domain). Interacts with MBD1 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115477, 3 interactors

Protein interaction database and analysis system

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IntActi
Q9UKZ4, 2 interactors

Molecular INTeraction database

More...
MINTi
Q9UKZ4

STRING: functional protein association networks

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STRINGi
9606.ENSP00000403954

<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
Q9UKZ4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UKZ4

Database of comparative protein structure models

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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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 318Teneurin N-terminalPROSITE-ProRule annotationAdd BLAST318
Domaini528 – 559EGF-like 1PROSITE-ProRule annotationAdd BLAST32
Domaini560 – 591EGF-like 2PROSITE-ProRule annotationAdd BLAST32
Domaini592 – 624EGF-like 3PROSITE-ProRule annotationAdd BLAST33
Domaini625 – 657EGF-like 4PROSITE-ProRule annotationAdd BLAST33
Domaini658 – 691EGF-like 5PROSITE-ProRule annotationAdd BLAST34
Domaini692 – 721EGF-like 6PROSITE-ProRule annotationAdd BLAST30
Domaini722 – 753EGF-like 7PROSITE-ProRule annotationAdd BLAST32
Domaini761 – 796EGF-like 8PROSITE-ProRule annotationAdd BLAST36
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1194 – 1219NHL 1Add BLAST26
Repeati1292 – 1336NHL 2Add BLAST45
Repeati1351 – 1402NHL 3Add BLAST52
Repeati1414 – 1458NHL 4Add BLAST45
Repeati1481 – 1524NHL 5Add BLAST44
Repeati1534 – 1553YD 1Add BLAST20
Repeati1570 – 1590YD 2Add BLAST21
Repeati1608 – 1632YD 3Add BLAST25
Repeati1633 – 1654YD 4Add BLAST22
Repeati1655 – 1675YD 5Add BLAST21
Repeati1845 – 1864YD 6Add BLAST20
Repeati1865 – 1885YD 7Add BLAST21
Repeati1886 – 1904YD 8Add BLAST19
Repeati1905 – 1925YD 9Add BLAST21
Repeati1933 – 1949YD 10Add BLAST17
Repeati1950 – 1969YD 11Add BLAST20
Repeati1970 – 1989YD 12Add BLAST20
Repeati1992 – 2012YD 13Add BLAST21
Repeati2015 – 2035YD 14Add BLAST21
Repeati2085 – 2105YD 15Add BLAST21
Repeati2113 – 2133YD 16Add BLAST21
Repeati2153 – 2173YD 17Add BLAST21
Repeati2174 – 2194YD 18Add BLAST21
Repeati2196 – 2216YD 19Add BLAST21
Repeati2228 – 2248YD 20Add BLAST21
Repeati2250 – 2270YD 21Add BLAST21
Repeati2296 – 2313YD 22Add BLAST18
Repeati2314 – 2337YD 23Add BLAST24

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi62 – 65Nuclear localization signal (NLS)By similarity4
Motifi290 – 297Required for interaction with SORBS1 (Ten-1 ICD form)By similarity8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi192 – 200Poly-Pro9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

EGF-like domains 2 and 5 which have an odd number of cysteines might enable the formation of intermolecular disulfide bonds.
Cytoplasmic proline-rich regions could serve as docking domains for intracellular SH3-containing proteins.

<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

Belongs to the tenascin family. Teneurin subfamily.Curated

Keywords - Domaini

EGF-like domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4659 Eukaryota
ENOG410XQQD LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153154

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231701

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080306

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UKZ4

Identification of Orthologs from Complete Genome Data

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OMAi
PVLWSPV

Database of Orthologous Groups

More...
OrthoDBi
7516at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UKZ4

TreeFam database of animal gene trees

More...
TreeFami
TF316833

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.120.10.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR009471 Ten_N
IPR027688 TENM1/TENM4
IPR028916 Tox-GHH_dom
IPR006530 YD

The PANTHER Classification System

More...
PANTHERi
PTHR11219:SF9 PTHR11219:SF9, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06484 Ten_N, 2 hits
PF15636 Tox-GHH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 8 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01643 YD_repeat_2x, 3 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00022 EGF_1, 8 hits
PS01186 EGF_2, 7 hits
PS50026 EGF_3, 5 hits
PS51361 TENEURIN_N, 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>Sequences (2)i

<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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9UKZ4-1) [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
        10         20         30         40         50
MEQTDCKPYQ PLPKVKHEMD LAYTSSSDES EDGRKPRQSY NSRETLHEYN
60 70 80 90 100
QELRMNYNSQ SRKRKEVEKS TQEMEFCETS HTLCSGYQTD MHSVSRHGYQ
110 120 130 140 150
LEMGSDVDTE TEGAASPDHA LRMWIRGMKS EHSSCLSSRA NSALSLTDTD
160 170 180 190 200
HERKSDGENG FKFSPVCCDM EAQAGSTQDV QSSPHNQFTF RPLPPPPPPP
210 220 230 240 250
HACTCARKPP PAADSLQRRS MTTRSQPSPA APAPPTSTQD SVHLHNSWVL
260 270 280 290 300
NSNIPLETRH FLFKHGSGSS AIFSAASQNY PLTSNTVYSP PPRPLPRSTF
310 320 330 340 350
SRPAFTFNKP YRCCNWKCTA LSATAITVTL ALLLAYVIAV HLFGLTWQLQ
360 370 380 390 400
PVEGELYANG VSKGNRGTES MDTTYSPIGG KVSDKSEKKV FQKGRAIDTG
410 420 430 440 450
EVDIGAQVMQ TIPPGLFWRF QITIHHPIYL KFNISLAKDS LLGIYGRRNI
460 470 480 490 500
PPTHTQFDFV KLMDGKQLVK QDSKGSDDTQ HSPRNLILTS LQETGFIEYM
510 520 530 540 550
DQGPWYLAFY NDGKKMEQVF VLTTAIEIMD DCSTNCNGNG ECISGHCHCF
560 570 580 590 600
PGFLGPDCAR DSCPVLCGGN GEYEKGHCVC RHGWKGPECD VPEEQCIDPT
610 620 630 640 650
CFGHGTCIMG VCICVPGYKG EICEEEDCLD PMCSNHGICV KGECHCSTGW
660 670 680 690 700
GGVNCETPLP VCQEQCSGHG TFLLDAGVCS CDPKWTGSDC STELCTMECG
710 720 730 740 750
SHGVCSRGIC QCEEGWVGPT CEERSCHSHC TEHGQCKDGK CECSPGWEGD
760 770 780 790 800
HCTIAHYLDA VRDGCPGLCF GNGRCTLDQN GWHCVCQVGW SGTGCNVVME
810 820 830 840 850
MLCGDNLDND GDGLTDCVDP DCCQQSNCYI SPLCQGSPDP LDLIQQSQTL
860 870 880 890 900
FSQHTSRLFY DRIKFLIGKD STHVIPPEVS FDSRRACVIR GQVVAIDGTP
910 920 930 940 950
LVGVNVSFLH HSDYGFTISR QDGSFDLVAI GGISVILIFD RSPFLPEKRT
960 970 980 990 1000
LWLPWNQFIV VEKVTMQRVV SDPPSCDISN FISPNPIVLP SPLTSFGGSC
1010 1020 1030 1040 1050
PERGTIVPEL QVVQEEIPIP SSFVRLSYLS SRTPGYKTLL RILLTHSTIP
1060 1070 1080 1090 1100
VGMIKVHLTV AVEGRLTQKW FPAAINLVYT FAWNKTDIYG QKVWGLAEAL
1110 1120 1130 1140 1150
VSVGYEYETC PDFILWEQRT VVLQGFEMDA SNLGGWSLNK HHILNPQSGI
1160 1170 1180 1190 1200
IHKGNGENMF ISQQPPVIST IMGNGHQRSV ACTNCNGPAH NNKLFAPVAL
1210 1220 1230 1240 1250
ASGPDGSVYV GDFNFVRRIF PSGNSVSILE LSTSPAHKYY LAMDPVSESL
1260 1270 1280 1290 1300
YLSDTNTRKV YKLKSLVETK DLSKNFEVVA GTGDQCLPFD QSHCGDGGRA
1310 1320 1330 1340 1350
SEASLNSPRG ITVDRHGFIY FVDGTMIRKI DENAVITTVI GSNGLTSTQP
1360 1370 1380 1390 1400
LSCDSGMDIT QVRLEWPTDL AVNPMDNSLY VLDNNIVLQI SENRRVRIIA
1410 1420 1430 1440 1450
GRPIHCQVPG IDHFLVSKVA IHSTLESARA ISVSHSGLLF IAETDERKVN
1460 1470 1480 1490 1500
RIQQVTTNGE IYIIAGAPTD CDCKIDPNCD CFSGDGGYAK DAKMKAPSSL
1510 1520 1530 1540 1550
AVSPDGTLYV ADLGNVRIRT ISRNQAHLND MNIYEIASPA DQELYQFTVN
1560 1570 1580 1590 1600
GTHLHTLNLI TRDYVYNFTY NSEGDLGAIT SSNGNSVHIR RDAGGMPLWL
1610 1620 1630 1640 1650
VVPGGQVYWL TISSNGVLKR VSAQGYNLAL MTYPGNTGLL ATKSNENGWT
1660 1670 1680 1690 1700
TVYEYDPEGH LTNATFPTGE VSSFHSDLEK LTKVELDTSN RENVLMSTNL
1710 1720 1730 1740 1750
TATSTIYILK QENTQSTYRV NPDGSLRVTF ASGMEIGLSS EPHILAGAVN
1760 1770 1780 1790 1800
PTLGKCNISL PGEHNANLIE WRQRKEQNKG NVSAFERRLR AHNRNLLSID
1810 1820 1830 1840 1850
FDHITRTGKI YDDHRKFTLR ILYDQTGRPI LWSPVSRYNE VNITYSPSGL
1860 1870 1880 1890 1900
VTFIQRGTWN EKMEYDQSGK IISRTWADGK IWSYTYLEKS VMLLLHSQRR
1910 1920 1930 1940 1950
YIFEYDQPDC LLSVTMPSMV RHSLQTMLSV GYYRNIYTPP DSSTSFIQDY
1960 1970 1980 1990 2000
SRDGRLLQTL HLGTGRRVLY KYTKQARLSE VLYDTTQVTL TYEESSGVIK
2010 2020 2030 2040 2050
TIHLMHDGFI CTIRYRQTGP LIGRQIFRFS EEGLVNARFD YSYNNFRVTS
2060 2070 2080 2090 2100
MQAVINETPL PIDLYRYVDV SGRTEQFGKF SVINYDLNQV ITTTVMKHTK
2110 2120 2130 2140 2150
IFSANGQVIE VQYEILKAIA YWMTIQYDNV GRMVICDIRV GVDANITRYF
2160 2170 2180 2190 2200
YEYDADGQLQ TVSVNDKTQW RYSYDLNGNI NLLSHGKSAR LTPLRYDLRD
2210 2220 2230 2240 2250
RITRLGEIQY KMDEDGFLRQ RGNDIFEYNS NGLLQKAYNK ASGWTVQYYY
2260 2270 2280 2290 2300
DGLGRRVASK SSLGQHLQFF YADLTNPIRV THLYNHTSSE ITSLYYDLQG
2310 2320 2330 2340 2350
HLIAMELSSG EEYYVACDNT GTPLAVFSSR GQVIKEILYT PYGDIYHDTY
2360 2370 2380 2390 2400
PDFQVIIGFH GGLYDFLTKL VHLGQRDYDV VAGRWTTPNH HIWKQLNLLP
2410 2420 2430 2440 2450
KPFNLYSFEN NYPVGKIQDV AKYTTDIRSW LELFGFQLHN VLPGFPKPEL
2460 2470 2480 2490 2500
ENLELTYELL RLQTKTQEWD PGKTILGIQC ELQKQLRNFI SLDQLPMTPR
2510 2520 2530 2540 2550
YNDGRCLEGG KQPRFAAVPS VFGKGIKFAI KDGIVTADII GVANEDSRRL
2560 2570 2580 2590 2600
AAILNNAHYL ENLHFTIEGR DTHYFIKLGS LEEDLVLIGN TGGRRILENG
2610 2620 2630 2640 2650
VNVTVSQMTS VLNGRTRRFA DIQLQHGALC FNIRYGTTVE EEKNHVLEIA
2660 2670 2680 2690 2700
RQRAVAQAWT KEQRRLQEGE EGIRAWTEGE KQQLLSTGRV QGYDGYFVLS
2710 2720
VEQYLELSDS ANNIHFMRQS EIGRR
Length:2,725
Mass (Da):305,011
Last modified:October 31, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i70F5C22BF33B5BB7
GO
Isoform 2 (identifier: Q9UKZ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1231-1231: L → LRNRDTRH

Note: No experimental confirmation available.
Show »
Length:2,732
Mass (Da):305,947
Checksum:i7EA5C0EC5B692B15
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti261F → S in AAF04723 (PubMed:10556288).Curated1
Sequence conflicti1135G → D in AAF04723 (PubMed:10556288).Curated1
Sequence conflicti1628L → P in AAF04723 (PubMed:10556288).Curated1
Sequence conflicti1908P → S in AAF04723 (PubMed:10556288).Curated1
Sequence conflicti2133 – 2137MVICD → HGNMC in AAF04723 (PubMed:10556288).Curated5
Sequence conflicti2179N → D in AAF04723 (PubMed:10556288).Curated1
Sequence conflicti2271 – 2275YADLT → VDATA in AAF04723 (PubMed:10556288).Curated5
Sequence conflicti2388 – 2389PN → AY in AAF04723 (PubMed:10556288).Curated2
Sequence conflicti2611V → L in AAF04723 (PubMed:10556288).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_05379240Y → H. Corresponds to variant dbSNP:rs36065191Ensembl.1
Natural variantiVAR_076255174A → D1 PublicationCorresponds to variant dbSNP:rs139486546Ensembl.1
Natural variantiVAR_036596342L → F in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_053793371M → T. Corresponds to variant dbSNP:rs2213591Ensembl.1
Natural variantiVAR_053794632M → V. Corresponds to variant dbSNP:rs16999334Ensembl.1
Natural variantiVAR_053795641K → E. Corresponds to variant dbSNP:rs6649271Ensembl.1
Natural variantiVAR_0365971216V → I in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137882910Ensembl.1
Natural variantiVAR_0365981482F → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0365992235Q → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0366002396L → F in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0433561231L → LRNRDTRH in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF100772 mRNA Translation: AAF04723.1
AL022718 Genomic DNA No translation available.
AL023878 Genomic DNA No translation available.
AL031075 Genomic DNA No translation available.
Z81008 Genomic DNA No translation available.
Z83823 Genomic DNA No translation available.
Z85995 Genomic DNA No translation available.
BC140783 mRNA Translation: AAI40784.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14609.1 [Q9UKZ4-1]
CCDS55488.1 [Q9UKZ4-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001156750.1, NM_001163278.1 [Q9UKZ4-2]
NP_001156751.1, NM_001163279.1
NP_055068.2, NM_014253.3 [Q9UKZ4-1]
XP_011529532.1, XM_011531230.2 [Q9UKZ4-2]
XP_016884703.1, XM_017029214.1 [Q9UKZ4-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.23796
Hs.744536

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371130; ENSP00000360171; ENSG00000009694 [Q9UKZ4-1]
ENST00000422452; ENSP00000403954; ENSG00000009694 [Q9UKZ4-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10178

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10178

UCSC genome browser

More...
UCSCi
uc004euj.4 human [Q9UKZ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF100772 mRNA Translation: AAF04723.1
AL022718 Genomic DNA No translation available.
AL023878 Genomic DNA No translation available.
AL031075 Genomic DNA No translation available.
Z81008 Genomic DNA No translation available.
Z83823 Genomic DNA No translation available.
Z85995 Genomic DNA No translation available.
BC140783 mRNA Translation: AAI40784.1
CCDSiCCDS14609.1 [Q9UKZ4-1]
CCDS55488.1 [Q9UKZ4-2]
RefSeqiNP_001156750.1, NM_001163278.1 [Q9UKZ4-2]
NP_001156751.1, NM_001163279.1
NP_055068.2, NM_014253.3 [Q9UKZ4-1]
XP_011529532.1, XM_011531230.2 [Q9UKZ4-2]
XP_016884703.1, XM_017029214.1 [Q9UKZ4-1]
UniGeneiHs.23796
Hs.744536

3D structure databases

ProteinModelPortaliQ9UKZ4
SMRiQ9UKZ4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115477, 3 interactors
IntActiQ9UKZ4, 2 interactors
MINTiQ9UKZ4
STRINGi9606.ENSP00000403954

PTM databases

iPTMnetiQ9UKZ4
PhosphoSitePlusiQ9UKZ4

Polymorphism and mutation databases

BioMutaiTENM1
DMDMi117949792

Proteomic databases

EPDiQ9UKZ4
jPOSTiQ9UKZ4
PaxDbiQ9UKZ4
PeptideAtlasiQ9UKZ4
PRIDEiQ9UKZ4
ProteomicsDBi84918
84919 [Q9UKZ4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371130; ENSP00000360171; ENSG00000009694 [Q9UKZ4-1]
ENST00000422452; ENSP00000403954; ENSG00000009694 [Q9UKZ4-2]
GeneIDi10178
KEGGihsa:10178
UCSCiuc004euj.4 human [Q9UKZ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10178
DisGeNETi10178
EuPathDBiHostDB:ENSG00000009694.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TENM1
HGNCiHGNC:8117 TENM1
HPAiHPA002848
MalaCardsiTENM1
MIMi300588 gene
neXtProtiNX_Q9UKZ4
OpenTargetsiENSG00000009694
Orphaneti88620 Isolated congenital anosmia
PharmGKBiPA31904

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4659 Eukaryota
ENOG410XQQD LUCA
GeneTreeiENSGT00940000153154
HOGENOMiHOG000231701
HOVERGENiHBG080306
InParanoidiQ9UKZ4
OMAiPVLWSPV
OrthoDBi7516at2759
PhylomeDBiQ9UKZ4
TreeFamiTF316833

Enzyme and pathway databases

SignaLinkiQ9UKZ4

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TENM1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ODZ1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10178

Protein Ontology

More...
PROi
PR:Q9UKZ4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000009694 Expressed in 160 organ(s), highest expression level in cerebellar vermis
GenevisibleiQ9UKZ4 HS

Family and domain databases

Gene3Di2.120.10.30, 2 hits
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR009471 Ten_N
IPR027688 TENM1/TENM4
IPR028916 Tox-GHH_dom
IPR006530 YD
PANTHERiPTHR11219:SF9 PTHR11219:SF9, 2 hits
PfamiView protein in Pfam
PF06484 Ten_N, 2 hits
PF15636 Tox-GHH, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 8 hits
TIGRFAMsiTIGR01643 YD_repeat_2x, 3 hits
PROSITEiView protein in PROSITE
PS00022 EGF_1, 8 hits
PS01186 EGF_2, 7 hits
PS50026 EGF_3, 5 hits
PS51361 TENEURIN_N, 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 nameiTEN1_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>AccessioniPrimary (citable) accession number: Q9UKZ4
Secondary accession number(s): B2RTR5, Q5JZ17
<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 historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: February 13, 2019
This is version 146 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 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.

<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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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