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Entry version 132 (03 Jul 2019)
Sequence version 2 (31 Oct 2006)
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Protein

Teneurin-4

Gene

TENM4

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. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small-diameter axons in the central nervous system (CNS) (PubMed:26188006). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity).By similarity1 Publication

<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

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 functionDevelopmental protein
Biological processDifferentiation

<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-4
Short name:
Ten-4
Alternative name(s):
Protein Odd Oz/ten-m homolog 4
Tenascin-M4
Short name:
Ten-m4
Teneurin transmembrane protein 4
<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:TENM4
Synonyms:KIAA1302, ODZ4, TNM4
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29945 TENM4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610084 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6N022

<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 & Seán O’Donoghue; 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 – 345CytoplasmicSequence analysisAdd BLAST345
<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>Transmembranei346 – 366HelicalSequence analysisAdd BLAST21
Topological domaini367 – 2769ExtracellularSequence analysisAdd BLAST2403

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, 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

<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

Tremor, hereditary essential 5 (ETM5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant.
Related information in OMIM
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_07665453R → P in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760852624Ensembl.1
Natural variantiVAR_076655474A → D in ETM5; unknown pathological significance. 1 Publication1
Natural variantiVAR_076656518R → Q in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201191369Ensembl.1
Natural variantiVAR_0766571128V → M in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556858741Ensembl.1
Natural variantiVAR_0765211138V → M in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs538881762EnsemblClinVar.1
Natural variantiVAR_0765221367T → N in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs763485258EnsemblClinVar.1
Natural variantiVAR_0765231442A → T in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs375681722EnsemblClinVar.1
Natural variantiVAR_0766581535K → Q in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770111861Ensembl.1
Natural variantiVAR_0766591632R → H in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199687168Ensembl.1
Natural variantiVAR_0766601763G → R in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201995608Ensembl.1
Natural variantiVAR_0766612451M → I in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201769315Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
26011

MalaCards human disease database

More...
MalaCardsi
TENM4
MIMi616736 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149256

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

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Orphaneti
862 NON RARE IN EUROPE: Hereditary essential tremor

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134896466

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TENM4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
117949795

<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_00002595081 – 2769Teneurin-4Add BLAST2769

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 residuei124PhosphoserineBy similarity1
Modified residuei178PhosphothreonineBy 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>Glycosylationi467N-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 bondi566 ↔ 576PROSITE-ProRule annotation
Disulfide bondi570 ↔ 581PROSITE-ProRule annotation
Disulfide bondi583 ↔ 592PROSITE-ProRule annotation
Disulfide bondi601 ↔ 612PROSITE-ProRule annotation
Disulfide bondi614 ↔ 623PROSITE-ProRule annotation
Disulfide bondi630 ↔ 641PROSITE-ProRule annotation
Disulfide bondi635 ↔ 646PROSITE-ProRule annotation
Disulfide bondi648 ↔ 657PROSITE-ProRule annotation
Disulfide bondi662 ↔ 673PROSITE-ProRule annotation
Disulfide bondi667 ↔ 678PROSITE-ProRule annotation
Disulfide bondi680 ↔ 689PROSITE-ProRule annotation
Disulfide bondi700 ↔ 713PROSITE-ProRule annotation
Disulfide bondi715 ↔ 724PROSITE-ProRule annotation
Disulfide bondi729 ↔ 739PROSITE-ProRule annotation
Disulfide bondi733 ↔ 744PROSITE-ProRule annotation
Disulfide bondi746 ↔ 755PROSITE-ProRule annotation
Disulfide bondi760 ↔ 770PROSITE-ProRule annotation
Disulfide bondi764 ↔ 775PROSITE-ProRule annotation
Disulfide bondi777 ↔ 786PROSITE-ProRule annotation
Disulfide bondi800 ↔ 810PROSITE-ProRule annotation
Disulfide bondi804 ↔ 819PROSITE-ProRule annotation
Disulfide bondi821 ↔ 830PROSITE-ProRule annotation
Glycosylationi940N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1259N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1609N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1705N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1741N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1799N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1884N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1985N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2188N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2328N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2646N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6N022

MaxQB - The MaxQuant DataBase

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MaxQBi
Q6N022

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

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PaxDbi
Q6N022

PeptideAtlas

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PeptideAtlasi
Q6N022

PRoteomics IDEntifications database

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PRIDEi
Q6N022

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66601

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q6N022

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6N022

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

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PhosphoSitePlusi
Q6N022

<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

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Bgeei
ENSG00000149256 Expressed in 166 organ(s), highest expression level in brain

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6N022 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6N022 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019521
HPA065961

<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 (Probable). May also form heterodimer with either TENM1 or TENM2 or TENM3 (By similarity).

By similarityCurated

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117484, 1 interactor

Protein interaction database and analysis system

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IntActi
Q6N022, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000278550

<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

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

More...
SMRi
Q6N022

Database of comparative protein structure models

More...
ModBasei
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 – 341Teneurin N-terminalPROSITE-ProRule annotationAdd BLAST341
Domaini562 – 593EGF-like 1PROSITE-ProRule annotationAdd BLAST32
Domaini594 – 624EGF-like 2PROSITE-ProRule annotationAdd BLAST31
Domaini626 – 658EGF-like 3PROSITE-ProRule annotationAdd BLAST33
Domaini659 – 690EGF-like 4PROSITE-ProRule annotationAdd BLAST32
Domaini692 – 725EGF-like 5PROSITE-ProRule annotationAdd BLAST34
Domaini726 – 757EGF-like 6PROSITE-ProRule annotationAdd BLAST32
Domaini758 – 787EGF-like 7PROSITE-ProRule annotationAdd BLAST30
Domaini788 – 831EGF-like 8PROSITE-ProRule annotationAdd BLAST44
<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>Repeati1216 – 1259NHL 1Add BLAST44
Repeati1264 – 1308NHL 2Add BLAST45
Repeati1334 – 1378NHL 3Add BLAST45
Repeati1393 – 1444NHL 4Add BLAST52
Repeati1523 – 1566NHL 5Add BLAST44
Repeati1576 – 1595YD 1Add BLAST20
Repeati1612 – 1632YD 2Add BLAST21
Repeati1675 – 1694YD 3Add BLAST20
Repeati1695 – 1717YD 4Add BLAST23
Repeati1887 – 1906YD 5Add BLAST20
Repeati1928 – 1946YD 6Add BLAST19
Repeati1947 – 1967YD 7Add BLAST21
Repeati1974 – 1991YD 8Add BLAST18
Repeati1992 – 2013YD 9Add BLAST22
Repeati2014 – 2031YD 10Add BLAST18
Repeati2034 – 2054YD 11Add BLAST21
Repeati2057 – 2077YD 12Add BLAST21
Repeati2085 – 2104YD 13Add BLAST20
Repeati2110 – 2127YD 14Add BLAST18
Repeati2128 – 2154YD 15Add BLAST27
Repeati2156 – 2169YD 16Add BLAST14
Repeati2170 – 2193YD 17Add BLAST24
Repeati2196 – 2216YD 18Add BLAST21
Repeati2217 – 2237YD 19Add BLAST21
Repeati2239 – 2259YD 20Add BLAST21
Repeati2271 – 2291YD 21Add BLAST21
Repeati2293 – 2313YD 22Add BLAST21
Repeati2339 – 2380YD 23Add BLAST42

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 biasi179 – 182Poly-Pro4

<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
ENOG410IT6V Eukaryota
ENOG410Z5H4 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182725

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231701

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6N022

Identification of Orthologs from Complete Genome Data

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OMAi
AISGCKM

Database of Orthologous Groups

More...
OrthoDBi
7516at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6N022

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

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InterProi
View protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR008969 CarboxyPept-like_regulatory
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR013111 EGF_extracell
IPR022385 Rhs_assc_core
IPR027691 Ten-4
IPR009471 Ten_N
IPR028916 Tox-GHH_dom
IPR006530 YD

The PANTHER Classification System

More...
PANTHERi
PTHR11219:SF9 PTHR11219:SF9, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07974 EGF_2, 2 hits
PF06484 Ten_N, 2 hits
PF15636 Tox-GHH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 8 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49464 SSF49464, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR03696 Rhs_assc_core, 1 hit
TIGR01643 YD_repeat_2x, 2 hits

PROSITE; a protein domain and family database

More...
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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q6N022-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDVKERKPYR SLTRRRDAER RYTSSSADSE EGKAPQKSYS SSETLKAYDQ
60 70 80 90 100
DARLAYGSRV KDIVPQEAEE FCRTGANFTL RELGLEEVTP PHGTLYRTDI
110 120 130 140 150
GLPHCGYSMG AGSDADMEAD TVLSPEHPVR LWGRSTRSGR SSCLSSRANS
160 170 180 190 200
NLTLTDTEHE NTETDHPGGL QNHARLRTPP PPLSHAHTPN QHHAASINSL
210 220 230 240 250
NRGNFTPRSN PSPAPTDHSL SGEPPAGGAQ EPAHAQENWL LNSNIPLETR
260 270 280 290 300
NLGKQPFLGT LQDNLIEMDI LGASRHDGAY SDGHFLFKPG GTSPLFCTTS
310 320 330 340 350
PGYPLTSSTV YSPPPRPLPR STFARPAFNL KKPSKYCNWK CAALSAIVIS
360 370 380 390 400
ATLVILLAYF VAMHLFGLNW HLQPMEGQMY EITEDTASSW PVPTDVSLYP
410 420 430 440 450
SGGTGLETPD RKGKGTTEGK PSSFFPEDSF IDSGEIDVGR RASQKIPPGT
460 470 480 490 500
FWRSQVFIDH PVHLKFNVSL GKAALVGIYG RKGLPPSHTQ FDFVELLDGR
510 520 530 540 550
RLLTQEARSL EGTPRQSRGT VPPSSHETGF IQYLDSGIWH LAFYNDGKES
560 570 580 590 600
EVVSFLTTAI ESVDNCPSNC YGNGDCISGT CHCFLGFLGP DCGRASCPVL
610 620 630 640 650
CSGNGQYMKG RCLCHSGWKG AECDVPTNQC IDVACSNHGT CITGTCICNP
660 670 680 690 700
GYKGESCEEV DCMDPTCSGR GVCVRGECHC SVGWGGTNCE TPRATCLDQC
710 720 730 740 750
SGHGTFLPDT GLCSCDPSWT GHDCSIEICA ADCGGHGVCV GGTCRCEDGW
760 770 780 790 800
MGAACDQRAC HPRCAEHGTC RDGKCECSPG WNGEHCTIAH YLDRVVKEGC
810 820 830 840 850
PGLCNGNGRC TLDLNGWHCV CQLGWRGAGC DTSMETACGD SKDNDGDGLV
860 870 880 890 900
DCMDPDCCLQ PLCHINPLCL GSPNPLDIIQ ETQVPVSQQN LHSFYDRIKF
910 920 930 940 950
LVGRDSTHII PGENPFDGGH ACVIRGQVMT SDGTPLVGVN ISFVNNPLFG
960 970 980 990 1000
YTISRQDGSF DLVTNGGISI ILRFERAPFI TQEHTLWLPW DRFFVMETII
1010 1020 1030 1040 1050
MRHEENEIPS CDLSNFARPN PVVSPSPLTS FASSCAEKGP IVPEIQALQE
1060 1070 1080 1090 1100
EISISGCKMR LSYLSSRTPG YKSVLRISLT HPTIPFNLMK VHLMVAVEGR
1110 1120 1130 1140 1150
LFRKWFAAAP DLSYYFIWDK TDVYNQKVFG LSEAFVSVGY EYESCPDLIL
1160 1170 1180 1190 1200
WEKRTTVLQG YEIDASKLGG WSLDKHHALN IQSGILHKGN GENQFVSQQP
1210 1220 1230 1240 1250
PVIGSIMGNG RRRSISCPSC NGLADGNKLL APVALTCGSD GSLYVGDFNY
1260 1270 1280 1290 1300
IRRIFPSGNV TNILELRNKD FRHSHSPAHK YYLATDPMSG AVFLSDSNSR
1310 1320 1330 1340 1350
RVFKIKSTVV VKDLVKNSEV VAGTGDQCLP FDDTRCGDGG KATEATLTNP
1360 1370 1380 1390 1400
RGITVDKFGL IYFVDGTMIR RIDQNGIIST LLGSNDLTSA RPLSCDSVMD
1410 1420 1430 1440 1450
ISQVHLEWPT DLAINPMDNS LYVLDNNVVL QISENHQVRI VAGRPMHCQV
1460 1470 1480 1490 1500
PGIDHFLLSK VAIHATLESA TALAVSHNGV LYIAETDEKK INRIRQVTTS
1510 1520 1530 1540 1550
GEISLVAGAP SGCDCKNDAN CDCFSGDDGY AKDAKLNTPS SLAVCADGEL
1560 1570 1580 1590 1600
YVADLGNIRI RFIRKNKPFL NTQNMYELSS PIDQELYLFD TTGKHLYTQS
1610 1620 1630 1640 1650
LPTGDYLYNF TYTGDGDITL ITDNNGNMVN VRRDSTGMPL WLVVPDGQVY
1660 1670 1680 1690 1700
WVTMGTNSAL KSVTTQGHEL AMMTYHGNSG LLATKSNENG WTTFYEYDSF
1710 1720 1730 1740 1750
GRLTNVTFPT GQVSSFRSDT DSSVHVQVET SSKDDVTITT NLSASGAFYT
1760 1770 1780 1790 1800
LLQDQVRNSY YIGADGSLRL LLANGMEVAL QTEPHLLAGT VNPTVGKRNV
1810 1820 1830 1840 1850
TLPIDNGLNL VEWRQRKEQA RGQVTVFGRR LRVHNRNLLS LDFDRVTRTE
1860 1870 1880 1890 1900
KIYDDHRKFT LRILYDQAGR PSLWSPSSRL NGVNVTYSPG GYIAGIQRGI
1910 1920 1930 1940 1950
MSERMEYDQA GRITSRIFAD GKTWSYTYLE KSMVLLLHSQ RQYIFEFDKN
1960 1970 1980 1990 2000
DRLSSVTMPN VARQTLETIR SVGYYRNIYQ PPEGNASVIQ DFTEDGHLLH
2010 2020 2030 2040 2050
TFYLGTGRRV IYKYGKLSKL AETLYDTTKV SFTYDETAGM LKTINLQNEG
2060 2070 2080 2090 2100
FTCTIRYRQI GPLIDRQIFR FTEEGMVNAR FDYNYDNSFR VTSMQAVINE
2110 2120 2130 2140 2150
TPLPIDLYRY DDVSGKTEQF GKFGVIYYDI NQIITTAVMT HTKHFDAYGR
2160 2170 2180 2190 2200
MKEVQYEIFR SLMYWMTVQY DNMGRVVKKE LKVGPYANTT RYSYEYDADG
2210 2220 2230 2240 2250
QLQTVSINDK PLWRYSYDLN GNLHLLSPGN SARLTPLRYD IRDRITRLGD
2260 2270 2280 2290 2300
VQYKMDEDGF LRQRGGDIFE YNSAGLLIKA YNRAGSWSVR YRYDGLGRRV
2310 2320 2330 2340 2350
SSKSSHSHHL QFFYADLTNP TKVTHLYNHS SSEITSLYYD LQGHLFAMEL
2360 2370 2380 2390 2400
SSGDEFYIAC DNIGTPLAVF SGTGLMIKQI LYTAYGEIYM DTNPNFQIII
2410 2420 2430 2440 2450
GYHGGLYDPL TKLVHMGRRD YDVLAGRWTS PDHELWKHLS SSNVMPFNLY
2460 2470 2480 2490 2500
MFKNNNPISN SQDIKCFMTD VNSWLLTFGF QLHNVIPGYP KPDMDAMEPS
2510 2520 2530 2540 2550
YELIHTQMKT QEWDNSKSIL GVQCEVQKQL KAFVTLERFD QLYGSTITSC
2560 2570 2580 2590 2600
QQAPKTKKFA SSGSVFGKGV KFALKDGRVT TDIISVANED GRRVAAILNH
2610 2620 2630 2640 2650
AHYLENLHFT IDGVDTHYFV KPGPSEGDLA ILGLSGGRRT LENGVNVTVS
2660 2670 2680 2690 2700
QINTVLNGRT RRYTDIQLQY GALCLNTRYG TTLDEEKARV LELARQRAVR
2710 2720 2730 2740 2750
QAWAREQQRL REGEEGLRAW TEGEKQQVLS TGRVQGYDGF FVISVEQYPE
2760
LSDSANNIHF MRQSEMGRR
Length:2,769
Mass (Da):307,957
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:i280D87D43FBE88A1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPG4E9PPG4_HUMAN
Teneurin-4
TENM4
157Annotation score:

Annotation score:1 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>
H0YCW4H0YCW4_HUMAN
Teneurin-4
TENM4
151Annotation score:

Annotation score:1 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>
H0YCJ4H0YCJ4_HUMAN
Teneurin-4
TENM4
951Annotation score:

Annotation score:1 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB71206 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti1471T → I in CAE45850 (PubMed:17974005).Curated1
Sequence conflicti1842D → G in CAD97943 (PubMed:17974005).Curated1
Sequence conflicti2024L → F in CAD97943 (PubMed:17974005).Curated1
Sequence conflicti2393N → D in CAE45850 (PubMed:17974005).Curated1
Sequence conflicti2551Q → L in BAB71206 (PubMed:14702039).Curated1
Sequence conflicti2586V → G in CAB45719 (PubMed:17974005).Curated1
Sequence conflicti2599N → D in CAB45719 (PubMed:17974005).Curated1
Sequence conflicti2657N → S in BAB71206 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06216714R → Q. Corresponds to variant dbSNP:rs58537389Ensembl.1
Natural variantiVAR_07665453R → P in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760852624Ensembl.1
Natural variantiVAR_060130396V → I. Corresponds to variant dbSNP:rs3812723Ensembl.1
Natural variantiVAR_076655474A → D in ETM5; unknown pathological significance. 1 Publication1
Natural variantiVAR_060131506E → Q. Corresponds to variant dbSNP:rs17137261Ensembl.1
Natural variantiVAR_076656518R → Q in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201191369Ensembl.1
Natural variantiVAR_0766571128V → M in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs556858741Ensembl.1
Natural variantiVAR_0765211138V → M in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs538881762EnsemblClinVar.1
Natural variantiVAR_0765221367T → N in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs763485258EnsemblClinVar.1
Natural variantiVAR_0765231442A → T in ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization. 1 PublicationCorresponds to variant dbSNP:rs375681722EnsemblClinVar.1
Natural variantiVAR_0766581535K → Q in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770111861Ensembl.1
Natural variantiVAR_0766591632R → H in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199687168Ensembl.1
Natural variantiVAR_0766601763G → R in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201995608Ensembl.1
Natural variantiVAR_0766612451M → I in ETM5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201769315Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AP002515 Genomic DNA No translation available.
AP002768 Genomic DNA No translation available.
AP002958 Genomic DNA No translation available.
AP002957 Genomic DNA No translation available.
AB037723 mRNA Translation: BAA92540.3
BX640737 mRNA Translation: CAE45850.1
AL080120 mRNA Translation: CAB45719.1
BX537983 mRNA Translation: CAD97943.1
AK056531 mRNA Translation: BAB71206.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44688.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T12457

NCBI Reference Sequences

More...
RefSeqi
NP_001092286.2, NM_001098816.2
XP_016873015.1, XM_017017526.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000278550; ENSP00000278550; ENSG00000149256

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26011

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26011

UCSC genome browser

More...
UCSCi
uc001ozl.5 human

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

<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
AP002515 Genomic DNA No translation available.
AP002768 Genomic DNA No translation available.
AP002958 Genomic DNA No translation available.
AP002957 Genomic DNA No translation available.
AB037723 mRNA Translation: BAA92540.3
BX640737 mRNA Translation: CAE45850.1
AL080120 mRNA Translation: CAB45719.1
BX537983 mRNA Translation: CAD97943.1
AK056531 mRNA Translation: BAB71206.1 Different initiation.
CCDSiCCDS44688.1
PIRiT12457
RefSeqiNP_001092286.2, NM_001098816.2
XP_016873015.1, XM_017017526.1

3D structure databases

SMRiQ6N022
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117484, 1 interactor
IntActiQ6N022, 9 interactors
STRINGi9606.ENSP00000278550

PTM databases

CarbonylDBiQ6N022
iPTMnetiQ6N022
PhosphoSitePlusiQ6N022

Polymorphism and mutation databases

BioMutaiTENM4
DMDMi117949795

Proteomic databases

jPOSTiQ6N022
MaxQBiQ6N022
PaxDbiQ6N022
PeptideAtlasiQ6N022
PRIDEiQ6N022
ProteomicsDBi66601

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
26011
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278550; ENSP00000278550; ENSG00000149256
GeneIDi26011
KEGGihsa:26011
UCSCiuc001ozl.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26011
DisGeNETi26011

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TENM4

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0009980
HGNCiHGNC:29945 TENM4
HPAiHPA019521
HPA065961
MalaCardsiTENM4
MIMi610084 gene
616736 phenotype
neXtProtiNX_Q6N022
OpenTargetsiENSG00000149256
Orphaneti862 NON RARE IN EUROPE: Hereditary essential tremor
PharmGKBiPA134896466

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IT6V Eukaryota
ENOG410Z5H4 LUCA
GeneTreeiENSGT00950000182725
HOGENOMiHOG000231701
InParanoidiQ6N022
OMAiAISGCKM
OrthoDBi7516at2759
PhylomeDBiQ6N022
TreeFamiTF316833

Miscellaneous databases

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

More...
ChiTaRSi
TENM4 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ODZ4

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

More...
GenomeRNAii
26011

Protein Ontology

More...
PROi
PR:Q6N022

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149256 Expressed in 166 organ(s), highest expression level in brain
ExpressionAtlasiQ6N022 baseline and differential
GenevisibleiQ6N022 HS

Family and domain databases

Gene3Di2.120.10.30, 2 hits
InterProiView protein in InterPro
IPR011042 6-blade_b-propeller_TolB-like
IPR008969 CarboxyPept-like_regulatory
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR013111 EGF_extracell
IPR022385 Rhs_assc_core
IPR027691 Ten-4
IPR009471 Ten_N
IPR028916 Tox-GHH_dom
IPR006530 YD
PANTHERiPTHR11219:SF9 PTHR11219:SF9, 1 hit
PfamiView protein in Pfam
PF07974 EGF_2, 2 hits
PF06484 Ten_N, 2 hits
PF15636 Tox-GHH, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 8 hits
SUPFAMiSSF49464 SSF49464, 1 hit
TIGRFAMsiTIGR03696 Rhs_assc_core, 1 hit
TIGR01643 YD_repeat_2x, 2 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...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiTEN4_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: Q6N022
Secondary accession number(s): A6ND26
, Q7Z3C7, Q96MS6, Q9P2P4, Q9Y4S2
<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: July 3, 2019
This is version 132 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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