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UniProtKB - Q99715 (COCA1_HUMAN)

Entry version 203 (25 May 2022)
Sequence version 2 (01 May 2007)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q99715

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

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

More...SignaLinki		Q99715

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%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:
Collagen alpha-1(XII) chain
<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:COL12A1
Synonyms:COL12A1L
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2188, COL12A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120320, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99715

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000111799

<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

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 variants 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 variants 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 variant

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, Tbio

Genetic variation 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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%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

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

More...jPOSTi		Q99715

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...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, 70 N-Linked glycans (4 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q99715, 14 sites, 82 N-linked glycans (4 sites), 9 O-linked glycans (6 sites)

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 tibia and 206 other tissues

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		ENSG00000111799, Tissue enhanced (endometrium)

<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

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, 65 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...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

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q99715, 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

3D structure databases

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

More...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%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>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>Regioni799 – 830DisorderedSequence analysisAdd BLAST32
Regioni1077 – 1099DisorderedSequence analysisAdd BLAST23
Regioni2283 – 2312DisorderedSequence analysisAdd BLAST30
Regioni2451 – 2746Nonhelical region (NC3)Add BLAST296
Regioni2743 – 2896DisorderedSequence analysisAdd BLAST154
Regioni2747 – 2898Triple-helical region (COL2) with 1 imperfectionAdd BLAST152
Regioni2899 – 2941Nonhelical region (NC2)Add BLAST43
Regioni2932 – 3063DisorderedSequence analysisAdd BLAST132
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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1078 – 1099Polar residuesSequence analysisAdd BLAST22
Compositional biasi2297 – 2312Pro residuesSequence analysisAdd BLAST16
Compositional biasi2778 – 2797Pro residuesSequence analysisAdd BLAST20
Compositional biasi2824 – 2838Pro residuesSequence analysisAdd BLAST15
Compositional biasi2940 – 2954Pro residuesSequence analysisAdd BLAST15
Compositional biasi3018 – 3036Pro residuesSequence analysisAdd BLAST19
Compositional biasi3048 – 3063Polar residuesSequence analysisAdd BLAST16

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3544, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154923

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000467_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99715

Identification of Orthologs from Complete Genome Data

More...OMAi		KAEIQKC

Database of Orthologous Groups

More...OrthoDBi		67372at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99715

TreeFam database of animal gene trees

More...TreeFami		TF329914

Family and domain databases

Conserved Domains Database

More...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

More...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%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>Sequences (3+)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 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 4 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 <p><strong>What is the canonical sequence?</strong><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.

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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 4 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: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>
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>
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:rs57396313EnsemblClinVar.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		ENST00000322507.13; ENSP00000325146.8; ENSG00000111799.22
ENST00000345356.10; ENSP00000305147.9; ENSG00000111799.22 [Q99715-2]
ENST00000416123.6; ENSP00000412864.2; ENSG00000111799.22 [Q99715-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1303

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1303

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000322507.13; ENSP00000325146.8; NM_004370.6; NP_004361.3

UCSC genome browser

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

Keywords - Coding sequence diversityi

Alternative splicing

<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, 65 interactors
ComplexPortaliCPX-1753, Collagen type XII trimer
IntActiQ99715, 9 interactors
STRINGi9606.ENSP00000325146

PTM databases

GlyConnecti1131, 70 N-Linked glycans (4 sites)
GlyGeniQ99715, 14 sites, 82 N-linked glycans (4 sites), 9 O-linked glycans (6 sites)
iPTMnetiQ99715
PhosphoSitePlusiQ99715

Genetic variation databases

BioMutaiCOL12A1
DMDMi146345397

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2124, 100 antibodies from 19 providers

The DNASU plasmid repository

More...DNASUi		1303

Genome annotation databases

EnsembliENST00000322507.13; ENSP00000325146.8; ENSG00000111799.22
ENST00000345356.10; ENSP00000305147.9; ENSG00000111799.22 [Q99715-2]
ENST00000416123.6; ENSP00000412864.2; ENSG00000111799.22 [Q99715-4]
GeneIDi1303
KEGGihsa:1303
MANE-SelectiENST00000322507.13; ENSP00000325146.8; NM_004370.6; NP_004361.3
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
HPAiENSG00000111799, Tissue enhanced (endometrium)
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
VEuPathDBiHostDB:ENSG00000111799

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3544, Eukaryota
GeneTreeiENSGT00940000154923
HOGENOMiCLU_000467_0_0_1
InParanoidiQ99715
OMAiKAEIQKC
OrthoDBi67372at2759
PhylomeDBiQ99715
TreeFamiTF329914

Enzyme and pathway databases

PathwayCommonsiQ99715
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
SignaLinkiQ99715
SIGNORiQ99715

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1303, 5 hits in 1068 CRISPR screens

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, Tbio

Protein Ontology

More...PROi		PR:Q99715
RNActiQ99715, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000111799, Expressed in tibia and 206 other tissues
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

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%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: July 15, 1998
Last sequence update: May 1, 2007
Last modified: May 25, 2022
This is version 203 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

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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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