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Entry version 190 (16 Oct 2019)
Sequence version 2 (01 May 2007)
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Protein

Collagen alpha-1(XII) chain

Gene

COL12A1

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

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99715

<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:
Collagen alpha-1(XII) chain
<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:COL12A1
Synonyms:COL12A1L
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2188 COL12A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
120320 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99715

<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

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

Ullrich congenital muscular dystrophy 2 (UCMD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
Related information in OMIM
Bethlem myopathy 2 (BTHLM2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 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_0745461965R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1303

MalaCards human disease database

More...
MalaCardsi
COL12A1
MIMi616470 phenotype
616471 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000111799

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

More...
Orphaneti
610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
536516 Myopathic Ehlers-Danlos syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26704

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99715

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL12A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146345397

<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 – 23Sequence analysisAdd BLAST23
<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_000000578324 – 3063Collagen alpha-1(XII) chainAdd BLAST3040

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi700N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi798O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi889O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi981O-linked (Xyl...) (chondroitin sulfate) serineSequence analysis1
Glycosylationi1763N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2528N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi2679N-linked (GlcNAc...) asparagine1 Publication1
<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 residuei29444-hydroxyprolineBy similarity1
Modified residuei29474-hydroxyprolineBy similarity1
Modified residuei29504-hydroxyprolineBy similarity1
Modified residuei29594-hydroxyprolineBy similarity1
Modified residuei29654-hydroxyprolineBy similarity1
Modified residuei29684-hydroxyprolineBy similarity1
Modified residuei29714-hydroxyprolineBy similarity1
Modified residuei29834-hydroxyprolineBy similarity1
Modified residuei30004-hydroxyprolineBy similarity1
Modified residuei30034-hydroxyprolineBy similarity1
Modified residuei30144-hydroxyprolineBy similarity1
Modified residuei30234-hydroxyprolineBy similarity1
Modified residuei30264-hydroxyprolineBy similarity1
Modified residuei30294-hydroxyprolineBy similarity1

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

The triple-helical tail is stabilized by disulfide bonds at each end.By similarity
Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.By similarity
Isoform 1 O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Proteoglycan

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99715

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99715

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q99715

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q99715

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

More...
PaxDbi
Q99715

PeptideAtlas

More...
PeptideAtlasi
Q99715

PRoteomics IDEntifications database

More...
PRIDEi
Q99715

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
78429 [Q99715-1]
78430 [Q99715-2]
78431 [Q99715-4]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1131

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q99715

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

More...
PhosphoSitePlusi
Q99715

<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

Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000111799 Expressed in 190 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q99715 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q99715 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA009143
HPA070695

<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

Trimer of identical chains each containing 190 kDa of non-triple-helical sequences.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107700, 8 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1753 Collagen type XII trimer

Protein interaction database and analysis system

More...
IntActi
Q99715, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000325146

<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

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SMRi
Q99715

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>Domaini27 – 117Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST91
Domaini140 – 316VWFA 1PROSITE-ProRule annotationAdd BLAST177
Domaini336 – 426Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST91
Domaini440 – 616VWFA 2PROSITE-ProRule annotationAdd BLAST177
Domaini634 – 722Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST89
Domaini725 – 816Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST92
Domaini817 – 905Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST89
Domaini907 – 998Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST92
Domaini999 – 1087Fibronectin type-III 7PROSITE-ProRule annotationAdd BLAST89
Domaini1089 – 1179Fibronectin type-III 8PROSITE-ProRule annotationAdd BLAST91
Domaini1199 – 1371VWFA 3PROSITE-ProRule annotationAdd BLAST173
Domaini1387 – 1476Fibronectin type-III 9PROSITE-ProRule annotationAdd BLAST90
Domaini1477 – 1567Fibronectin type-III 10PROSITE-ProRule annotationAdd BLAST91
Domaini1568 – 1658Fibronectin type-III 11PROSITE-ProRule annotationAdd BLAST91
Domaini1659 – 1754Fibronectin type-III 12PROSITE-ProRule annotationAdd BLAST96
Domaini1755 – 1849Fibronectin type-III 13PROSITE-ProRule annotationAdd BLAST95
Domaini1850 – 1935Fibronectin type-III 14PROSITE-ProRule annotationAdd BLAST86
Domaini1936 – 2026Fibronectin type-III 15PROSITE-ProRule annotationAdd BLAST91
Domaini2027 – 2117Fibronectin type-III 16PROSITE-ProRule annotationAdd BLAST91
Domaini2118 – 2206Fibronectin type-III 17PROSITE-ProRule annotationAdd BLAST89
Domaini2207 – 2294Fibronectin type-III 18PROSITE-ProRule annotationAdd BLAST88
Domaini2323 – 2496VWFA 4PROSITE-ProRule annotationAdd BLAST174
Domaini2520 – 2712Laminin G-likeAdd BLAST193
Domaini2747 – 2798Collagen-like 1Add BLAST52
Domaini2802 – 2852Collagen-like 2Add BLAST51
Domaini2853 – 2898Collagen-like 3Add BLAST46
Domaini2941 – 2990Collagen-like 4Add BLAST50

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2451 – 2746Nonhelical region (NC3)Add BLAST296
Regioni2747 – 2898Triple-helical region (COL2) with 1 imperfectionAdd BLAST152
Regioni2899 – 2941Nonhelical region (NC2)Add BLAST43
Regioni2942 – 3044Triple-helical region (COL1) with 2 imperfectionsAdd BLAST103
Regioni3045 – 3063Nonhelical region (NC1)Add BLAST19

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>Motifi862 – 864Cell attachment siteSequence analysis3
Motifi2779 – 2781Cell attachment siteSequence analysis3
Motifi2895 – 2897Cell attachment siteSequence analysis3

<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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IS7D Eukaryota
ENOG4111RUM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154923

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99715

KEGG Orthology (KO)

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KOi
K08132

Identification of Orthologs from Complete Genome Data

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OMAi
VKVSTEC

Database of Orthologous Groups

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OrthoDBi
67372at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99715

TreeFam database of animal gene trees

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TreeFami
TF329914

Family and domain databases

Conserved Domains Database

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CDDi
cd00063 FN3, 18 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 18 hits
3.40.50.410, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 4 hits
PF00041 fn3, 18 hits
PF00092 VWA, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00060 FN3, 18 hits
SM00210 TSPN, 1 hit
SM00327 VWA, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 11 hits
SSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 18 hits
PS50234 VWFA, 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_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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: The final tissue form of collagen XII may contain homotrimers of either isoform 1 or isoform 2 or any combination of isoform 1 and isoform 2.

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99715-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSRLPPALA ALGAALLLSS IEAEVDPPSD LNFKIIDENT VHMSWAKPVD
60 70 80 90 100
PIVGYRITVD PTTDGPTKEF TLSASTTETL LSELVPETEY VVTITSYDEV
110 120 130 140 150
EESVPVIGQL TIQTGSSTKP VEKKPGKTEI QKCSVSAWTD LVFLVDGSWS
160 170 180 190 200
VGRNNFKYIL DFIAALVSAF DIGEEKTRVG VVQYSSDTRT EFNLNQYYQR
210 220 230 240 250
DELLAAIKKI PYKGGNTMTG DAIDYLVKNT FTESAGARVG FPKVAIIITD
260 270 280 290 300
GKSQDEVEIP ARELRNVGVE VFSLGIKAAD AKELKQIAST PSLNHVFNVA
310 320 330 340 350
NFDAIVDIQN EIISQVCSGV DEQLGELVSG EEVVEPPSNL IAMEVSSKYV
360 370 380 390 400
KLNWNPSPSP VTGYKVILTP MTAGSRQHAL SVGPQTTTLS VRDLSADTEY
410 420 430 440 450
QISVSAMKGM TSSEPISIME KTQPMKVQVE CSRGVDIKAD IVFLVDGSYS
460 470 480 490 500
IGIANFVKVR AFLEVLVKSF EISPNRVQIS LVQYSRDPHT EFTLKKFTKV
510 520 530 540 550
EDIIEAINTF PYRGGSTNTG KAMTYVREKI FVPSKGSRSN VPKVMILITD
560 570 580 590 600
GKSSDAFRDP AIKLRNSDVE IFAVGVKDAV RSELEAIASP PAETHVFTVE
610 620 630 640 650
DFDAFQRISF ELTQSICLRI EQELAAIKKK AYVPPKDLSF SEVTSYGFKT
660 670 680 690 700
NWSPAGENVF SYHITYKEAA GDDEVTVVEP ASSTSVVLSS LKPETLYLVN
710 720 730 740 750
VTAEYEDGFS IPLAGEETTE EVKGAPRNLK VTDETTDSFK ITWTQAPGRV
760 770 780 790 800
LRYRIIYRPV AGGESREVTT PPNQRRRTLE NLIPDTKYEV SVIPEYFSGP
810 820 830 840 850
GTPLTGNAAT EEVRGNPRDL RVSDPTTSTM KLSWSGAPGK VKQYLVTYTP
860 870 880 890 900
VAGGETQEVT VRGDTTNTVL QGLKEGTQYA LSVTALYASG AGDALFGEGT
910 920 930 940 950
TLEERGSPQD LVTKDITDTS IGAYWTSAPG MVRGYRVSWK SLYDDVDTGE
960 970 980 990 1000
KNLPEDAIHT MIENLQPETK YRISVFATYS SGEGEPLTGD ATTELSQDSK
1010 1020 1030 1040 1050
TLKVDEETEN TMRVTWKPAP GKVVNYRVVY RPHGRGKQMV AKVPPTVTST
1060 1070 1080 1090 1100
VLKRLQPQTT YDITVLPIYK MGEGKLRQGS GTTASRFKSP RNLKTSDPTM
1110 1120 1130 1140 1150
SSFRVTWEPA PGEVKGYKVT FHPTGDDRRL GELVVGPYDN TVVLEELRAG
1160 1170 1180 1190 1200
TTYKVNVFGM FDGGESSPLV GQEMTTLSDT TVMPILSSGM ECLTRAEADI
1210 1220 1230 1240 1250
VLLVDGSWSI GRANFRTVRS FISRIVEVFD IGPKRVQIAL AQYSGDPRTE
1260 1270 1280 1290 1300
WQLNAHRDKK SLLQAVANLP YKGGNTLTGM ALNFIRQQNF RTQAGMRPRA
1310 1320 1330 1340 1350
RKIGVLITDG KSQDDVEAPS KKLKDEGVEL FAIGIKNADE VELKMIATDP
1360 1370 1380 1390 1400
DDTHAYNVAD FESLSRIVDD LTINLCNSVK GPGDLEAPSN LVISERTHRS
1410 1420 1430 1440 1450
FRVSWTPPSD SVDRYKVEYY PVSGGKRQEF YVSRMETSTV LKDLKPETEY
1460 1470 1480 1490 1500
VVNVYSVVED EYSEPLKGTE KTLPVPVVSL NIYDVGPTTM HVQWQPVGGA
1510 1520 1530 1540 1550
TGYILSYKPV KDTEPTRPKE VRLGPTVNDM QLTDLVPNTE YAVTVQAVLH
1560 1570 1580 1590 1600
DLTSEPVTVR EVTLPLPRPQ DLKLRDVTHS TMNVFWEPVP GKVRKYIVRY
1610 1620 1630 1640 1650
KTPEEDVKEV EVDRSETSTS LKDLFSQTLY TVSVSAVHDE GESPPVTAQE
1660 1670 1680 1690 1700
TTRPVPAPTN LKITEVTSEG FRGTWDHGAS DVSLYRITWA PFGSSDKMET
1710 1720 1730 1740 1750
ILNGDENTLV FENLNPNTIY EVSITAIYPD ESESDDLIGS ERTLPILTTQ
1760 1770 1780 1790 1800
APKSGPRNLQ VYNATSNSLT VKWDPASGRV QKYRITYQPS TGEGNEQTTT
1810 1820 1830 1840 1850
IGGRQNSVVL QKLKPDTPYT ITVSSLYPDG EGGRMTGRGK TKPLNTVRNL
1860 1870 1880 1890 1900
RVYDPSTSTL NVRWDHAEGN PRQYKLFYAP AAGGPEELVP IPGNTNYAIL
1910 1920 1930 1940 1950
RNLQPDTSYT VTVVPVYTEG DGGRTSDTGR TLMRGLARNV QVYNPTPNSL
1960 1970 1980 1990 2000
DVRWDPAPGP VLQYRVVYSP VDGTRPSESI VVPGNTRMVH LERLIPDTLY
2010 2020 2030 2040 2050
SVNLVALYSD GEGNPSPAQG RTLPRSGPRN LRVFGETTNS LSVAWDHADG
2060 2070 2080 2090 2100
PVQQYRIIYS PTVGDPIDEY TTVPGRRNNV ILQPLQPDTP YKITVIAVYE
2110 2120 2130 2140 2150
DGDGGHLTGN GRTVGLLPPQ NIHISDEWYT RFRVSWDPSP SPVLGYKIVY
2160 2170 2180 2190 2200
KPVGSNEPME AFVGEMTSYT LHNLNPSTTY DVNVYAQYDS GLSVPLTDQG
2210 2220 2230 2240 2250
TTLYLNVTDL KTYQIGWDTF CVKWSPHRAA TSYRLKLSPA DGTRGQEITV
2260 2270 2280 2290 2300
RGSETSHCFT GLSPDTDYGV TVFVQTPNLE GPGVSVKEHT TVKPTEAPTE
2310 2320 2330 2340 2350
PPTPPPPPTI PPARDVCKGA KADIVFLTDA SWSIGDDNFN KVVKFIFNTV
2360 2370 2380 2390 2400
GGFDEISPAG IQVSFVQYSD EVKSEFKLNT YNDKALALGA LQNIRYRGGN
2410 2420 2430 2440 2450
TRTGKALTFI KEKVLTWESG MRKNVPKVLV VVTDGRSQDE VKKAALVIQQ
2460 2470 2480 2490 2500
SGFSVFVVGV ADVDYNELAN IASKPSERHV FIVDDFESFE KIEDNLITFV
2510 2520 2530 2540 2550
CETATSSCPL IYLDGYTSPG FKMLEAYNLT EKNFASVQGV SLESGSFPSY
2560 2570 2580 2590 2600
SAYRIQKNAF VNQPTADLHP NGLPPSYTII LLFRLLPETP SDPFAIWQIT
2610 2620 2630 2640 2650
DRDYKPQVGV IADPSSKTLS FFNKDTRGEV QTVTFDTEEV KTLFYGSFHK
2660 2670 2680 2690 2700
VHIVVTSKSV KIYIDCYEII EKDIKEAGNI TTDGYEILGK LLKGERKSAA
2710 2720 2730 2740 2750
FQIQSFDIVC SPVWTSRDRC CDIPSRRDEG KCPAFPNSCT CTQDSVGPPG
2760 2770 2780 2790 2800
PPGPAGGPGA KGPRGERGIS GAIGPPGPRG DIGPPGPQGP PGPQGPNGLS
2810 2820 2830 2840 2850
IPGEQGRQGM KGDAGEPGLP GRTGTPGLPG PPGPMGPPGD RGFTGKDGAM
2860 2870 2880 2890 2900
GPRGPPGPPG SPGSPGVTGP SGKPGKPGDH GRPGPSGLKG EKGDRGDIAS
2910 2920 2930 2940 2950
QNMMRAVARQ VCEQLISGQM NRFNQMLNQI PNDYQSSRNQ PGPPGPPGPP
2960 2970 2980 2990 3000
GSAGARGEPG PGGRPGFPGT PGMQGPPGER GLPGEKGERG TGSSGPRGLP
3010 3020 3030 3040 3050
GPPGPQGESR TGPPGSTGSR GPPGPPGRPG NSGIRGPPGP PGYCDSSQCA
3060
SIPYNGQGYP GSG
Length:3,063
Mass (Da):333,147
Last modified:May 1, 2007 - 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:iEA38CAFECE8393D2
GO
Isoform 2 (identifier: Q99715-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     25-1188: Missing.

Show »
Length:1,899
Mass (Da):205,491
Checksum:iECFB9F5436FF7B24
GO
Isoform 4 (identifier: Q99715-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2651-2726: Missing.

Show »
Length:2,987
Mass (Da):324,570
Checksum:iE5EEB57CBFB556E2
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RGG3D6RGG3_HUMAN
Collagen alpha-1(XII) chain
COL12A1
3,062Annotation 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>
H0Y5N9H0Y5N9_HUMAN
Collagen alpha-1(XII) chain
COL12A1
756Annotation 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>
A0A087X0A8A0A087X0A8_HUMAN
Collagen alpha-1(XII) chain
COL12A1
1,874Annotation 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>
H0Y4P7H0Y4P7_HUMAN
Collagen alpha-1(XII) chain
COL12A1
638Annotation 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>
H0Y991H0Y991_HUMAN
Collagen alpha-1(XII) chain
COL12A1
207Annotation 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>

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 conflicti47K → E in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti441 – 442IV → M in AAC01506 (PubMed:9344363).Curated2
Sequence conflicti581R → D in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti689S → N in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti743W → S in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti749R → K in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti753Y → C in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti813V → G in AAC01506 (PubMed:9344363).Curated1
Sequence conflicti1355A → D in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1690A → G in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1729P → A in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti1949 – 1951SLD → RLG in AAC51244 (PubMed:9143499).Curated3
Sequence conflicti2614P → S in AAB23937 (PubMed:1427837).Curated1
Sequence conflicti2647 – 2648SF → RK in AAB23937 (PubMed:1427837).Curated2
Sequence conflicti2848G → S in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti2858P → R in AAC51244 (PubMed:9143499).Curated1
Sequence conflicti3035R → Q in AAC51244 (PubMed:9143499).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048768461A → P. Corresponds to variant dbSNP:rs34730529Ensembl.1
Natural variantiVAR_0487691738I → T1 PublicationCorresponds to variant dbSNP:rs240736EnsemblClinVar.1
Natural variantiVAR_0745461965R → C in BTHLM2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200487396EnsemblClinVar.1
Natural variantiVAR_0611112021R → Q. Corresponds to variant dbSNP:rs34438461EnsemblClinVar.1
Natural variantiVAR_0487702160E → V. Corresponds to variant dbSNP:rs35523808EnsemblClinVar.1
Natural variantiVAR_0745472334I → T in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052093EnsemblClinVar.1
Natural variantiVAR_0487712596I → V. Corresponds to variant dbSNP:rs35710072EnsemblClinVar.1
Natural variantiVAR_0745482786G → D in BTHLM2. 1 PublicationCorresponds to variant dbSNP:rs796052094EnsemblClinVar.1
Natural variantiVAR_0611123048Q → H. Corresponds to variant dbSNP:rs57396313Ensembl.1
Natural variantiVAR_0745493058G → S2 PublicationsCorresponds to variant dbSNP:rs970547EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00114925 – 1188Missing in isoform 2. 1 PublicationAdd BLAST1164
Alternative sequenceiVSP_0249422651 – 2726Missing in isoform 4. CuratedAdd BLAST76

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
U73778 mRNA Translation: AAC51244.1
U73779 mRNA Translation: AAD40483.1
AL080250 Genomic DNA No translation available.
AL354664 Genomic DNA No translation available.
AL096771 Genomic DNA No translation available.
AF061871 Genomic DNA Translation: AAC83578.1
U68139 mRNA Translation: AAC01506.1
AH004088 Genomic DNA Translation: AAB23937.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43481.1 [Q99715-2]
CCDS43482.1 [Q99715-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A44479

NCBI Reference Sequences

More...
RefSeqi
NP_004361.3, NM_004370.5 [Q99715-1]
NP_542376.2, NM_080645.2 [Q99715-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000322507; ENSP00000325146; ENSG00000111799 [Q99715-1]
ENST00000345356; ENSP00000305147; ENSG00000111799 [Q99715-2]
ENST00000416123; ENSP00000412864; ENSG00000111799 [Q99715-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1303

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1303

UCSC genome browser

More...
UCSCi
uc063ppm.1 human [Q99715-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U73778 mRNA Translation: AAC51244.1
U73779 mRNA Translation: AAD40483.1
AL080250 Genomic DNA No translation available.
AL354664 Genomic DNA No translation available.
AL096771 Genomic DNA No translation available.
AF061871 Genomic DNA Translation: AAC83578.1
U68139 mRNA Translation: AAC01506.1
AH004088 Genomic DNA Translation: AAB23937.2
CCDSiCCDS43481.1 [Q99715-2]
CCDS43482.1 [Q99715-1]
PIRiA44479
RefSeqiNP_004361.3, NM_004370.5 [Q99715-1]
NP_542376.2, NM_080645.2 [Q99715-2]

3D structure databases

SMRiQ99715
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107700, 8 interactors
ComplexPortaliCPX-1753 Collagen type XII trimer
IntActiQ99715, 9 interactors
STRINGi9606.ENSP00000325146

PTM databases

GlyConnecti1131
iPTMnetiQ99715
PhosphoSitePlusiQ99715

Polymorphism and mutation databases

BioMutaiCOL12A1
DMDMi146345397

Proteomic databases

EPDiQ99715
jPOSTiQ99715
MassIVEiQ99715
MaxQBiQ99715
PaxDbiQ99715
PeptideAtlasiQ99715
PRIDEiQ99715
ProteomicsDBi78429 [Q99715-1]
78430 [Q99715-2]
78431 [Q99715-4]

Genome annotation databases

EnsembliENST00000322507; ENSP00000325146; ENSG00000111799 [Q99715-1]
ENST00000345356; ENSP00000305147; ENSG00000111799 [Q99715-2]
ENST00000416123; ENSP00000412864; ENSG00000111799 [Q99715-4]
GeneIDi1303
KEGGihsa:1303
UCSCiuc063ppm.1 human [Q99715-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1303
DisGeNETi1303

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL12A1
HGNCiHGNC:2188 COL12A1
HPAiHPA009143
HPA070695
MalaCardsiCOL12A1
MIMi120320 gene
616470 phenotype
616471 phenotype
neXtProtiNX_Q99715
OpenTargetsiENSG00000111799
Orphaneti610 Bethlem myopathy
75840 Congenital muscular dystrophy, Ullrich type
536516 Myopathic Ehlers-Danlos syndrome
PharmGKBiPA26704

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IS7D Eukaryota
ENOG4111RUM LUCA
GeneTreeiENSGT00940000154923
InParanoidiQ99715
KOiK08132
OMAiVKVSTEC
OrthoDBi67372at2759
PhylomeDBiQ99715
TreeFamiTF329914

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ99715

Miscellaneous databases

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

More...
ChiTaRSi
COL12A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_XII,_alpha_1

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

More...
GenomeRNAii
1303
PharosiQ99715

Protein Ontology

More...
PROi
PR:Q99715

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111799 Expressed in 190 organ(s), highest expression level in tibia
ExpressionAtlasiQ99715 baseline and differential
GenevisibleiQ99715 HS

Family and domain databases

CDDicd00063 FN3, 18 hits
Gene3Di2.60.40.10, 18 hits
3.40.50.410, 4 hits
InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 4 hits
PF00041 fn3, 18 hits
PF00092 VWA, 4 hits
SMARTiView protein in SMART
SM00060 FN3, 18 hits
SM00210 TSPN, 1 hit
SM00327 VWA, 4 hits
SUPFAMiSSF49265 SSF49265, 11 hits
SSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 4 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 18 hits
PS50234 VWFA, 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 nameiCOCA1_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: Q99715
Secondary accession number(s): O43853
, Q15955, Q5VYK1, Q5VYK2, Q71UR3, Q99716
<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: July 15, 1998
Last sequence update: May 1, 2007
Last modified: October 16, 2019
This is version 190 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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