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Entry version 205 (12 Aug 2020)
Sequence version 1 (01 Nov 1996)
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Protein

Transforming growth factor-beta-induced protein ig-h3

Gene

TGFBI

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

Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (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

Biological processCell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q15582

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-977225, Amyloid fiber formation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q15582

<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%5Fand%5Ftaxonomy%5Fsection">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:
Transforming growth factor-beta-induced protein ig-h3
Short name:
Beta ig-h3
Alternative name(s):
Kerato-epithelin
RGD-containing collagen-associated protein
Short name:
RGD-CAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TGFBI
Synonyms:BIGH3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000120708.16

Human Gene Nomenclature Database

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HGNCi
HGNC:11771, TGFBI

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601692, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15582

<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

Keywords - Cellular componenti

Amyloid, Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Corneal dystrophy, epithelial basement membrane (EBMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.
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_031536509L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar.1
Natural variantiVAR_031546666R → S in EBMD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909217EnsemblClinVar.1
Corneal dystrophy, Groenouw type 1 (CDGG1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012444124R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_005083555R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 PublicationsCorresponds to variant dbSNP:rs121909208EnsemblClinVar.1
Corneal dystrophy, lattice type 1 (CDL1)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077904124R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_031535505V → D in CDL1. 1 Publication1
Natural variantiVAR_012446518L → P in CDL1. 1 Publication1
Natural variantiVAR_018484518L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication1
Natural variantiVAR_005080527L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl.1
Natural variantiVAR_018485538T → R in CDL1; delayed age of onset. 1 Publication1
Natural variantiVAR_031539546A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar.1
Natural variantiVAR_031540551P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar.1
Natural variantiVAR_031541569L → R in CDL1. 1 Publication1
Natural variantiVAR_031543572H → R in CDL1; late-onset. 1 Publication1
Natural variantiVAR_031542572Missing in CDL1; late-onset and unilateral phenotype. 1 Publication1
Natural variantiVAR_018487623G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar.1
Natural variantiVAR_018488626H → P in CDL1. 1 Publication1
Natural variantiVAR_012450626H → R in CDL1; delayed age of onset. 4 PublicationsCorresponds to variant dbSNP:rs1052006472Ensembl.1
Corneal dystrophy, Thiel-Behnke type (CDTB)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005082555R → Q in CDTB; originally thought to cause CDRB. 4 PublicationsCorresponds to variant dbSNP:rs121909209EnsemblClinVar.1
Corneal dystrophy, Reis-Bucklers type (CDRB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005078124R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_005081540Missing in CDRB. 2 Publications1
Corneal dystrophy, lattice type 3A (CDL3A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005079501P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar.1
Natural variantiVAR_031538540F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar.1
Natural variantiVAR_012448546A → T in CDL3A. 1 Publication1
Natural variantiVAR_018486622N → K in CDL3A. 1 Publication1
Corneal dystrophy, Avellino type (CDA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005077124R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1

Keywords - Diseasei

Amyloidosis, Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7045

MalaCards human disease database

More...
MalaCardsi
TGFBI
MIMi121820, phenotype
121900, phenotype
122200, phenotype
602082, phenotype
607541, phenotype
608470, phenotype
608471, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000120708

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

More...
Orphaneti
98956, Epithelial basement membrane dystrophy
98962, Granular corneal dystrophy type I
98963, Granular corneal dystrophy type II
98964, Lattice corneal dystrophy type I
98961, Reis-Buecklers corneal dystrophy
98960, Thiel-Behnke corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36484

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q15582, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4295829

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TGFBI

Domain mapping of disease mutations (DMDM)

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DMDMi
2498193

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 231 PublicationAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000876924 – 683Transforming growth factor-beta-induced protein ig-h3Add BLAST660

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 residuei37PhosphoserineCombined sources1
<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 bondi49 ↔ 851 Publication
Modified residuei65S-cysteinyl cysteine1 Publication1
Disulfide bondi74 ↔ 3391 Publication
Disulfide bondi84 ↔ 971 Publication
Disulfide bondi214 ↔ 3171 Publication
Disulfide bondi473 ↔ 4781 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; these residues may be required for binding to calcium (PubMed:18450759). According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues (PubMed:26273833).2 Publications
The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.1 Publication

Keywords - PTMi

Disulfide bond, Gamma-carboxyglutamic acid, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15582

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15582

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q15582

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15582

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

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PaxDbi
Q15582

PeptideAtlas

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PeptideAtlasi
Q15582

PRoteomics IDEntifications database

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PRIDEi
Q15582

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60645

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15582

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

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PhosphoSitePlusi
Q15582

<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

Highly expressed in the corneal epithelium (PubMed:27609313, PubMed:8077289). Expressed in heart, placenta, lung, liver, skeletal muscle, kidney and pancreas (PubMed:8077289).2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By TGF-beta (PubMed:1388724, PubMed:8024701).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000120708, Expressed in smooth muscle tissue and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15582, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15582, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000120708, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds to type I, II, and IV collagens.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
112903, 3 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q15582

Protein interaction database and analysis system

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IntActi
Q15582, 5 interactors

Molecular INTeraction database

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MINTi
Q15582

STRING: functional protein association networks

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STRINGi
9606.ENSP00000416330

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q15582, protein

<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

Secondary structure

1683
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q15582

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q15582

<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%5Fand%5Fdomains%5Fsection">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>Domaini45 – 99EMIPROSITE-ProRule annotationAdd BLAST55
Domaini103 – 236FAS1 1PROSITE-ProRule annotationAdd BLAST134
Domaini240 – 371FAS1 2PROSITE-ProRule annotationAdd BLAST132
Domaini375 – 498FAS1 3PROSITE-ProRule annotationAdd BLAST124
Domaini502 – 632FAS1 4PROSITE-ProRule annotationAdd BLAST131

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>Motifi642 – 644Cell attachment siteSequence analysis3

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1437, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00530000063860

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_017611_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15582

KEGG Orthology (KO)

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KOi
K19519

Identification of Orthologs from Complete Genome Data

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OMAi
RYHMVNK

Database of Orthologous Groups

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OrthoDBi
926852at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15582

TreeFam database of animal gene trees

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TreeFami
TF316269

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.180.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011489, EMI_domain
IPR036378, FAS1_dom_sf
IPR000782, FAS1_domain
IPR032954, TGFBI
IPR016666, TGFBI/POSTN

The PANTHER Classification System

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PANTHERi
PTHR10900:SF82, PTHR10900:SF82, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02469, Fasciclin, 4 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF016553, BIGH3_OSF2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00554, FAS1, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF82153, SSF82153, 4 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51041, EMI, 1 hit
PS50213, FAS1, 4 hits

<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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q15582-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALFVRLLAL ALALALGPAA TLAGPAKSPY QLVLQHSRLR GRQHGPNVCA
60 70 80 90 100
VQKVIGTNRK YFTNCKQWYQ RKICGKSTVI SYECCPGYEK VPGEKGCPAA
110 120 130 140 150
LPLSNLYETL GVVGSTTTQL YTDRTEKLRP EMEGPGSFTI FAPSNEAWAS
160 170 180 190 200
LPAEVLDSLV SNVNIELLNA LRYHMVGRRV LTDELKHGMT LTSMYQNSNI
210 220 230 240 250
QIHHYPNGIV TVNCARLLKA DHHATNGVVH LIDKVISTIT NNIQQIIEIE
260 270 280 290 300
DTFETLRAAV AASGLNTMLE GNGQYTLLAP TNEAFEKIPS ETLNRILGDP
310 320 330 340 350
EALRDLLNNH ILKSAMCAEA IVAGLSVETL EGTTLEVGCS GDMLTINGKA
360 370 380 390 400
IISNKDILAT NGVIHYIDEL LIPDSAKTLF ELAAESDVST AIDLFRQAGL
410 420 430 440 450
GNHLSGSERL TLLAPLNSVF KDGTPPIDAH TRNLLRNHII KDQLASKYLY
460 470 480 490 500
HGQTLETLGG KKLRVFVYRN SLCIENSCIA AHDKRGRYGT LFTMDRVLTP
510 520 530 540 550
PMGTVMDVLK GDNRFSMLVA AIQSAGLTET LNREGVYTVF APTNEAFRAL
560 570 580 590 600
PPRERSRLLG DAKELANILK YHIGDEILVS GGIGALVRLK SLQGDKLEVS
610 620 630 640 650
LKNNVVSVNK EPVAEPDIMA TNGVVHVITN VLQPPANRPQ ERGDELADSA
660 670 680
LEIFKQASAF SRASQRSVRL APVYQKLLER MKH
Length:683
Mass (Da):74,681
Last modified:November 1, 1996 - v1
<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:i40FDC8A71EBB3D00
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8M8H0Y8M8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
128Annotation score:

Annotation score:2 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>
H0Y8L3H0Y8L3_HUMAN
Transforming growth factor-beta-ind...
TGFBI
366Annotation 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>
S4R3C6S4R3C6_HUMAN
Transforming growth factor-beta-ind...
TGFBI
219Annotation 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>
H0Y9D7H0Y9D7_HUMAN
Transforming growth factor-beta-ind...
TGFBI
194Annotation 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>
H0YAH8H0YAH8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
78Annotation 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>
D6RBX4D6RBX4_HUMAN
Transforming growth factor-beta-ind...
TGFBI
65Annotation 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>
H0YAB8H0YAB8_HUMAN
Transforming growth factor-beta-ind...
TGFBI
59Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031531113V → I in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities. 1 PublicationCorresponds to variant dbSNP:rs757933370Ensembl.1
Natural variantiVAR_031532123D → H in granular corneal dystrophy; unclassified form; Hanoi. 1 PublicationCorresponds to variant dbSNP:rs541270955Ensembl.1
Natural variantiVAR_077904124R → C in CDL1; cysteinylated; no effect on the disulfide bond pattern. 7 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_005077124R → H in CDA; most common mutation in Japanese. 6 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_005078124R → L in CDRB. 5 PublicationsCorresponds to variant dbSNP:rs121909211EnsemblClinVar.1
Natural variantiVAR_012444124R → S in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity. 2 PublicationsCorresponds to variant dbSNP:rs121909210EnsemblClinVar.1
Natural variantiVAR_012445125 – 126Missing Associated with Leu-124 in atypical granular dystrophy; French granular variant. 2 Publications2
Natural variantiVAR_014335200I → F1 PublicationCorresponds to variant dbSNP:rs45455404Ensembl.1
Natural variantiVAR_031533269L → F1 PublicationCorresponds to variant dbSNP:rs199852470Ensembl.1
Natural variantiVAR_031534496R → G. Corresponds to variant dbSNP:rs10057190Ensembl.1
Natural variantiVAR_005079501P → T in CDL3A. 2 PublicationsCorresponds to variant dbSNP:rs121909212EnsemblClinVar.1
Natural variantiVAR_031535505V → D in CDL1. 1 Publication1
Natural variantiVAR_031536509L → R in EBMD. 1 PublicationCorresponds to variant dbSNP:rs121909216EnsemblClinVar.1
Natural variantiVAR_012446518L → P in CDL1. 1 Publication1
Natural variantiVAR_018484518L → R in CDL1; severe phenotype; delayed age of onset. 1 Publication1
Natural variantiVAR_005080527L → R in CDL1; late-onset; found also in sporadic cases. 3 PublicationsCorresponds to variant dbSNP:rs1050842080Ensembl.1
Natural variantiVAR_018485538T → R in CDL1; delayed age of onset. 1 Publication1
Natural variantiVAR_031537539V → D in lattice corneal dystrophy; unclassified form. 1 PublicationCorresponds to variant dbSNP:rs1382893670Ensembl.1
Natural variantiVAR_031538540F → S in CDL3A. 1 PublicationCorresponds to variant dbSNP:rs121909214EnsemblClinVar.1
Natural variantiVAR_005081540Missing in CDRB. 2 Publications1
Natural variantiVAR_012447544N → S Found in lattice corneal dystrophy; unclassified form; late-onset. 1 PublicationCorresponds to variant dbSNP:rs777288957EnsemblClinVar.1
Natural variantiVAR_031539546A → D in CDL1; associated with Q-551. 1 PublicationCorresponds to variant dbSNP:rs267607109EnsemblClinVar.1
Natural variantiVAR_012448546A → T in CDL3A. 1 Publication1
Natural variantiVAR_031540551P → Q in CDL1; associated with D-546. 1 PublicationCorresponds to variant dbSNP:rs267607110EnsemblClinVar.1
Natural variantiVAR_005082555R → Q in CDTB; originally thought to cause CDRB. 4 PublicationsCorresponds to variant dbSNP:rs121909209EnsemblClinVar.1
Natural variantiVAR_005083555R → W in CDGG1; common mutation in Europe and United States; rare in Japan. 7 PublicationsCorresponds to variant dbSNP:rs121909208EnsemblClinVar.1
Natural variantiVAR_031541569L → R in CDL1. 1 Publication1
Natural variantiVAR_031543572H → R in CDL1; late-onset. 1 Publication1
Natural variantiVAR_031542572Missing in CDL1; late-onset and unilateral phenotype. 1 Publication1
Natural variantiVAR_031544594G → V in lattice corneal dystrophy; unclassified form. 1 Publication1
Natural variantiVAR_012449622N → H in asymmetric lattice corneal dystrophy. 1 Publication1
Natural variantiVAR_018486622N → K in CDL3A. 1 Publication1
Natural variantiVAR_018487623G → D in CDL1; delayed age of onset. 1 PublicationCorresponds to variant dbSNP:rs121909215EnsemblClinVar.1
Natural variantiVAR_031545624 – 625Missing in lattice corneal dystrophy; unclassified form. 1 Publication2
Natural variantiVAR_018488626H → P in CDL1. 1 Publication1
Natural variantiVAR_012450626H → R in CDL1; delayed age of onset. 4 PublicationsCorresponds to variant dbSNP:rs1052006472Ensembl.1
Natural variantiVAR_018489631V → D Found in lattice corneal dystrophy; unclassified form. 1 Publication1
Natural variantiVAR_031546666R → S in EBMD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121909217EnsemblClinVar.1

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
M77349 mRNA Translation: AAA61163.1
AF035626 Genomic DNA Translation: AAB88695.1
AF035627 Genomic DNA Translation: AAB88698.1
AF035628 Genomic DNA Translation: AAB88696.1
AF035629 Genomic DNA Translation: AAB88697.1
AY149344 Genomic DNA Translation: AAN10294.1
BT009820 mRNA Translation: AAP88822.1
AC004503 Genomic DNA Translation: AAC08449.1
AC005219 Genomic DNA Translation: AAC24944.1
CH471062 Genomic DNA Translation: EAW62199.1
CH471062 Genomic DNA Translation: EAW62200.1
BC000097 mRNA Translation: AAH00097.1
BC004972 mRNA Translation: AAH04972.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47266.1

Protein sequence database of the Protein Information Resource

More...
PIRi
I52996

NCBI Reference Sequences

More...
RefSeqi
NP_000349.1, NM_000358.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000442011; ENSP00000416330; ENSG00000120708

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7045

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7045

UCSC genome browser

More...
UCSCi
uc003lbf.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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77349 mRNA Translation: AAA61163.1
AF035626 Genomic DNA Translation: AAB88695.1
AF035627 Genomic DNA Translation: AAB88698.1
AF035628 Genomic DNA Translation: AAB88696.1
AF035629 Genomic DNA Translation: AAB88697.1
AY149344 Genomic DNA Translation: AAN10294.1
BT009820 mRNA Translation: AAP88822.1
AC004503 Genomic DNA Translation: AAC08449.1
AC005219 Genomic DNA Translation: AAC24944.1
CH471062 Genomic DNA Translation: EAW62199.1
CH471062 Genomic DNA Translation: EAW62200.1
BC000097 mRNA Translation: AAH00097.1
BC004972 mRNA Translation: AAH04972.1
CCDSiCCDS47266.1
PIRiI52996
RefSeqiNP_000349.1, NM_000358.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X3BNMR-A502-634[»]
2LTBNMR-A502-634[»]
2LTCNMR-A502-634[»]
2VXPX-ray2.50A/B502-633[»]
5NV6X-ray2.93A/B1-683[»]
SMRiQ15582
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112903, 3 interactors
CORUMiQ15582
IntActiQ15582, 5 interactors
MINTiQ15582
STRINGi9606.ENSP00000416330

Chemistry databases

ChEMBLiCHEMBL4295829

PTM databases

iPTMnetiQ15582
PhosphoSitePlusiQ15582

Polymorphism and mutation databases

BioMutaiTGFBI
DMDMi2498193

Proteomic databases

EPDiQ15582
jPOSTiQ15582
MassIVEiQ15582
MaxQBiQ15582
PaxDbiQ15582
PeptideAtlasiQ15582
PRIDEiQ15582
ProteomicsDBi60645

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
1982, 398 antibodies

The DNASU plasmid repository

More...
DNASUi
7045

Genome annotation databases

EnsembliENST00000442011; ENSP00000416330; ENSG00000120708
GeneIDi7045
KEGGihsa:7045
UCSCiuc003lbf.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7045
DisGeNETi7045
EuPathDBiHostDB:ENSG00000120708.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TGFBI
HGNCiHGNC:11771, TGFBI
HPAiENSG00000120708, Low tissue specificity
MalaCardsiTGFBI
MIMi121820, phenotype
121900, phenotype
122200, phenotype
601692, gene
602082, phenotype
607541, phenotype
608470, phenotype
608471, phenotype
neXtProtiNX_Q15582
OpenTargetsiENSG00000120708
Orphaneti98956, Epithelial basement membrane dystrophy
98962, Granular corneal dystrophy type I
98963, Granular corneal dystrophy type II
98964, Lattice corneal dystrophy type I
98961, Reis-Buecklers corneal dystrophy
98960, Thiel-Behnke corneal dystrophy
PharmGKBiPA36484

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1437, Eukaryota
GeneTreeiENSGT00530000063860
HOGENOMiCLU_017611_1_0_1
InParanoidiQ15582
KOiK19519
OMAiRYHMVNK
OrthoDBi926852at2759
PhylomeDBiQ15582
TreeFamiTF316269

Enzyme and pathway databases

PathwayCommonsiQ15582
ReactomeiR-HSA-977225, Amyloid fiber formation
SIGNORiQ15582

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
7045, 4 hits in 876 CRISPR screens

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

More...
ChiTaRSi
TGFBI, human
EvolutionaryTraceiQ15582

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TGFBI

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

More...
GenomeRNAii
7045
PharosiQ15582, Tbio

Protein Ontology

More...
PROi
PR:Q15582
RNActiQ15582, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120708, Expressed in smooth muscle tissue and 242 other tissues
ExpressionAtlasiQ15582, baseline and differential
GenevisibleiQ15582, HS

Family and domain databases

Gene3Di2.30.180.10, 4 hits
InterProiView protein in InterPro
IPR011489, EMI_domain
IPR036378, FAS1_dom_sf
IPR000782, FAS1_domain
IPR032954, TGFBI
IPR016666, TGFBI/POSTN
PANTHERiPTHR10900:SF82, PTHR10900:SF82, 1 hit
PfamiView protein in Pfam
PF02469, Fasciclin, 4 hits
PIRSFiPIRSF016553, BIGH3_OSF2, 1 hit
SMARTiView protein in SMART
SM00554, FAS1, 4 hits
SUPFAMiSSF82153, SSF82153, 4 hits
PROSITEiView protein in PROSITE
PS51041, EMI, 1 hit
PS50213, FAS1, 4 hits

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 nameiBGH3_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: Q15582
Secondary accession number(s): D3DQB1
, O14471, O14472, O14476, O43216, O43217, O43218, O43219, Q53XM1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: August 12, 2020
This is version 205 of the entry and version 1 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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