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Protein

Collagen alpha-5(VI) chain

Gene

COL6A5

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

Collagen VI acts as a cell-binding protein.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-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

<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-5(VI) chain
Alternative name(s):
Collagen alpha-1(XXIX) chain
von Willebrand factor A domain-containing protein 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL6A5
Synonyms:COL29A1, VWA4
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000172752.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26674 COL6A5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611916 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A8TX70

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.

Organism-specific databases

DisGeNET

More...
DisGeNETi
256076

Open Targets

More...
OpenTargetsi
ENSG00000172752

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165696956

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2364188

<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 – 18Sequence analysisAdd BLAST18
<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_500029447519 – 2615Collagen alpha-5(VI) chainAdd BLAST2597

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>Glycosylationi201N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi260N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi835N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2509N-linked (GlcNAc...) asparagineSequence analysis1

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

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.By similarity

Keywords - PTMi

Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A8TX70

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

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PaxDbi
A8TX70

PRoteomics IDEntifications database

More...
PRIDEi
A8TX70

ProteomicsDB human proteome resource

More...
ProteomicsDBi
2486
2487 [A8TX70-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A8TX70

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

More...
PhosphoSitePlusi
A8TX70

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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

Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000172752 Expressed in 38 organ(s), highest expression level in upper lobe of left lung

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
A8TX70 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
A8TX70 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043138

<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

Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).Curated

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129134, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000265379

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
A8TX70

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

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SMRi
A8TX70

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 209VWFA 1PROSITE-ProRule annotationAdd BLAST180
Domaini236 – 413VWFA 2PROSITE-ProRule annotationAdd BLAST178
Domaini442 – 612VWFA 3PROSITE-ProRule annotationAdd BLAST171
Domaini628 – 797VWFA 4PROSITE-ProRule annotationAdd BLAST170
Domaini814 – 987VWFA 5PROSITE-ProRule annotationAdd BLAST174
Domaini1005 – 1178VWFA 6PROSITE-ProRule annotationAdd BLAST174
Domaini1194 – 1376VWFA 7PROSITE-ProRule annotationAdd BLAST183
Domaini1395 – 1446Collagen-like 1Sequence analysisAdd BLAST52
Domaini1434 – 1490Collagen-like 2Sequence analysisAdd BLAST57
Domaini1464 – 1520Collagen-like 3Sequence analysisAdd BLAST57
Domaini1524 – 1580Collagen-like 4Sequence analysisAdd BLAST57
Domaini1579 – 1629Collagen-like 5Sequence analysisAdd BLAST51
Domaini1674 – 1729Collagen-like 6Sequence analysisAdd BLAST56
Domaini1758 – 1965VWFA 8PROSITE-ProRule annotationAdd BLAST208
Domaini1963 – 2154VWFA 9PROSITE-ProRule annotationAdd BLAST192
Domaini2291 – 2487VWFA 10PROSITE-ProRule annotationAdd BLAST197

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>Regioni19 – 1394Nonhelical regionAdd BLAST1376
Regioni1395 – 1728Triple-helical regionAdd BLAST334
Regioni1729 – 2615Nonhelical regionAdd BLAST887

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>Motifi1430 – 1432Cell 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

Belongs to the type VI collagen family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162990

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107743

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
A8TX70

KEGG Orthology (KO)

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KOi
K06238

Identification of Orthologs from Complete Genome Data

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OMAi
KCFPNAC

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A8TX70

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.410, 9 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 4 hits
PF00092 VWA, 9 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00327 VWA, 9 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53300 SSF53300, 10 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50234 VWFA, 9 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

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

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A8TX70-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKILLIIFVL IIWTETLADQ SPGPGPVYAD VVFLVDSSDH LGPKSFPFVK
60 70 80 90 100
TFINKMINSL PIEANKYRVA LAQYSDEFHS EFHLSTFKGR SPMLNHLKKN
110 120 130 140 150
FQFIGGSLQI GKALQEAHRT YFSAPINGRD RKQFPPILVV LASAESEDEV
160 170 180 190 200
EEASKALQKD GVKIISVGVQ KASEENLKAM ATSHFHFNLR TIRDLSTFSQ
210 220 230 240 250
NMTQIIKDVT KYKEGAVDAD MQVHFPISCQ KDSLADLVFL VDESLGTGGN
260 270 280 290 300
LRHLQTFLEN ITSSMDVKEN CMRLGLMSYS NSAKTISFLK SSTTQSEFQQ
310 320 330 340 350
QIKNLSIQVG KSNTGAAIDQ MRRDGFSESY GSRRAQGVPQ IAVLVTHRPS
360 370 380 390 400
DDEVHDAALN LRLEDVNVFA LSIQGANNTQ LEEIVSYPPE QTISTLKSYA
410 420 430 440 450
DLETYSTKFL KKLQNEIWSQ ISTYAEQRNL DKTGCVDTKE ADIHFLIDGS
460 470 480 490 500
SSIQEKQFEQ IKRFMLEVTE MFSIGPDKVR VGVVQYSDDT EVEFYITDYS
510 520 530 540 550
NDIDLRKAIF NIKQLTGGTY TGKALDYILQ IIKNGMKDRM SKVPCYLIVL
560 570 580 590 600
TDGMSTDRVV EPAKRLRAEQ ITVHAVGIGA ANKIELQEIA GKEERVSFGQ
610 620 630 640 650
NFDALKSIKN EVVREICAEK GCEDMKADIM FLVDSSWSIG NENFRKMKIF
660 670 680 690 700
MKNLLTKIQI GADKTQIGVV QFSDKTKEEF QLNRYFTQQE ISDAIDRMSL
710 720 730 740 750
INEGTLTGKA LNFVGQYFTH SKGARLGAKK FLILITDGVA QDDVRDPARI
760 770 780 790 800
LRGKDVTIFS VGVYNANRSQ LEEISGDSSL VFHVENFDHL KALERKLIFR
810 820 830 840 850
VCALHDCKRI TLLDVVFVLD HSGSIKKQYQ DHMINLTIHL VKKADVGRDR
860 870 880 890 900
VQFGALKYSD QPNILFYLNT YSNRSAIIEN LRKRRDTGGN TYTAKALKHA
910 920 930 940 950
NALFTEEHGS RIKQNVKQML IVITDGESHD HDQLNDTALE LRNKGITIFA
960 970 980 990 1000
VGVGKANQKE LEGMAGNKNN TIYVDNFDKL KDVFTLVQER MCTEAPEVCH
1010 1020 1030 1040 1050
LQEADVIFLC DGSDRVSNSD FVTMTTFLSD LIDNFDIQSQ RMKIGMAQFG
1060 1070 1080 1090 1100
SNYQSIIELK NSLTKTQWKT QIQNVSKSGG FPRIDFALKK VSNMFNLHAG
1110 1120 1130 1140 1150
GRRNAGVPQT LVVITSGDPR YDVADAVKTL KDLGICVLVL GIGDVYKEHL
1160 1170 1180 1190 1200
LPITGNSEKI ITFQDFDKLK NVDVKKRIIR EICQSCGKTN CFMDIVVGFD
1210 1220 1230 1240 1250
ISTHVQGQPL FQGHPQLESY LPGILEDISS IKGVSCGAGT EAQVSLAFKV
1260 1270 1280 1290 1300
NSDQGFPAKF QIYQKAVFDS LLQVNVSGPT HLNAQFLRSL WDTFKDKSAS
1310 1320 1330 1340 1350
RGQVLLIFSD GLQSESNIML ENQSDRLREA GLDALLVVSL NTTAHHEFSS
1360 1370 1380 1390 1400
FEFGKRFDYR THLTIGMREL GKKLSQYLGN IAERTCCCTF CKCPGIPGPH
1410 1420 1430 1440 1450
GTRGLQAMKG SQGLKGSRGH RGEDGNPGVR GDTGPQGDKG IAGCPGAWGQ
1460 1470 1480 1490 1500
KGLKGFSGPK GGHGDDGIDG LDGEEGCHGF PGIKGEKGDP GSQGSPGSRG
1510 1520 1530 1540 1550
APGQYGEKGF PGDPGNPGQN NNIKGQKGSK GEQGRQGRSG QKGVQGSPSS
1560 1570 1580 1590 1600
RGSRGREGQR GLRGVSGEPG NPGPTGTLGA EGLQGPQGSQ GNPGRKGEKG
1610 1620 1630 1640 1650
SQGQKGPQGS PGLMGAKGST GRPGLLGKKG EPGLPGDLGP VGQTGQRGRQ
1660 1670 1680 1690 1700
GDSGIPGYGQ MGRKGVKGPR GFPGDAGQKG DIGNPGIPGG PGPKGFRGLA
1710 1720 1730 1740 1750
LTVGLKGEEG SRGLPGPPGQ RGIKGMAGQP VYSQCDLIRF LREHSPCWKE
1760 1770 1780 1790 1800
KCPAYPTELV FALDNSYDVT EESFNKTRDI ITSIVNDLNI RENNCPVGAR
1810 1820 1830 1840 1850
VAMVSYNSGT SYLIRWSDYN RKKQLLQQLS QIKYQDTTEP RDVGNAMRFV
1860 1870 1880 1890 1900
TRNVFKRTYA GANVRRVAVF FSNGQTASRS SIITATMEFS ALDISPTVFA
1910 1920 1930 1940 1950
FDERVFLEAF GFDNTGTFQV IPVPPNGENQ TLERLRRCAL CYDKCFPNAC
1960 1970 1980 1990 2000
IREAFLPEDS YMDVVFLIDN SRNIAKDEFK AVKALVSSVI DNFNIASDPL
2010 2020 2030 2040 2050
ISDSGDRIAL LSYSPWESSR RKMGTVKTEF DFITYDNQLL MKNHIQTSFQ
2060 2070 2080 2090 2100
QLNGEATIGR ALLWTTENLF PETPYLRKHK VIFVVSAGEN YERKEFVKMM
2110 2120 2130 2140 2150
ALRAKCQGYV IFVISLGSTR KDDMEELASY PLDQHLIQLG RIHKPDLNYI
2160 2170 2180 2190 2200
AKFLKPFLYS VRRGFNQYPP PMLEDACRLI NLGGENIQND GFQFVTELQE
2210 2220 2230 2240 2250
DFLGGNGFIG QELNSGRESP FVKTEDNGSD YLVYLPSQMF EPQKLMINYE
2260 2270 2280 2290 2300
KDQKSAEIAS LTSGHENYGR KEEPDHTYEP GDVSLQEYYM DVAFLIDASQ
2310 2320 2330 2340 2350
RVGSDEFKEV KAFITSVLDY FHIAPTPLTS TLGDRVAVLS YSPPGYMPNT
2360 2370 2380 2390 2400
EECPVYLEFD LVTYNSIHQM KHHLQDSQQL NGDVFIGHAL QWTIDNVFVG
2410 2420 2430 2440 2450
TPNLRKNKVI FVISAGETNS LDKDVLRNVS LRAKCQGYSI FVFSFGPKHN
2460 2470 2480 2490 2500
DKELEELASH PLDHHLVQLG RTHKPDWNYI IKFVKPFVHL IRRAINKYPT
2510 2520 2530 2540 2550
EDMKATCVNM TSPNPENGGT ENTVLLLPGI YEIKTENGDL FDEFDSQAQH
2560 2570 2580 2590 2600
LLVLGNNHSS GSETATDLMQ KLYLLFSTEK LAMKDKEKAH LEEISALVVD
2610
KQQEKEDKEM EATDI
Length:2,615
Mass (Da):289,926
Last modified:January 15, 2008 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i745874018AC47EAF
GO
Isoform 2 (identifier: A8TX70-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2526-2526: L → W
     2527-2615: Missing.

Note: No experimental confirmation available.
Show »
Length:2,526
Mass (Da):279,931
Checksum:i57BCAE5953E94AB6
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
E9PAL5E9PAL5_HUMAN
Collagen alpha-5(VI) chain
COL6A5
2,611Annotation 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>
H0Y393H0Y393_HUMAN
Collagen alpha-5(VI) chain
COL6A5
557Annotation 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>
H0Y9T2H0Y9T2_HUMAN
Collagen alpha-5(VI) chain
COL6A5
443Annotation 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>
H0Y935H0Y935_HUMAN
Collagen alpha-5(VI) chain
COL6A5
778Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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

The sequence BAC04092 differs from that shown. Reason: Frameshift at position 2591.Curated
The sequence BAC04092 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC85681 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2482K → R in BAC04092 (PubMed:14702039).Curated1
Sequence conflicti2512S → P in BAC04092 (PubMed:14702039).Curated1
Sequence conflicti2560S → N in CAP20002 (PubMed:18276594).Curated1
Sequence conflicti2560S → N in CAP20003 (PubMed:18276594).Curated1
Sequence conflicti2560S → N in BAC04092 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_059234455E → K1 PublicationCorresponds to variant dbSNP:rs1453241Ensembl.1
Natural variantiVAR_059235641N → H. Corresponds to variant dbSNP:rs9882852Ensembl.1
Natural variantiVAR_059236805H → R. Corresponds to variant dbSNP:rs16827168Ensembl.1
Natural variantiVAR_059237982D → G. Corresponds to variant dbSNP:rs11917356Ensembl.1
Natural variantiVAR_0592381114I → M. Corresponds to variant dbSNP:rs1353613Ensembl.1
Natural variantiVAR_0592391280T → P1 PublicationCorresponds to variant dbSNP:rs12488457Ensembl.1
Natural variantiVAR_0592401477C → S. Corresponds to variant dbSNP:rs1497312Ensembl.1
Natural variantiVAR_0592411589S → P. Corresponds to variant dbSNP:rs16827497Ensembl.1
Natural variantiVAR_0611192175D → N. Corresponds to variant dbSNP:rs60021408Ensembl.1
Natural variantiVAR_0436072188Q → R2 PublicationsCorresponds to variant dbSNP:rs9883988Ensembl.1
Natural variantiVAR_0436082205G → D2 PublicationsCorresponds to variant dbSNP:rs819085Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0339122526L → W in isoform 2. 1 Publication1
Alternative sequenceiVSP_0339132527 – 2615Missing in isoform 2. 1 PublicationAdd BLAST89

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
EU085556 mRNA Translation: ABW81241.1
AM906078 mRNA Translation: CAP19997.1
AM906079 mRNA Translation: CAP19998.1
AM906080 mRNA Translation: CAP19999.1
AM906081 mRNA Translation: CAP20000.1
AM906082 mRNA Translation: CAP20001.1
AM906083 mRNA Translation: CAP20002.1
AM906084 mRNA Translation: CAP20003.1
AC093004 Genomic DNA No translation available.
AC117398 Genomic DNA No translation available.
AK093199 mRNA Translation: BAC04092.1 Sequence problems.
AK123718 mRNA Translation: BAC85681.1 Different initiation.

NCBI Reference Sequences

More...
RefSeqi
NP_001265227.1, NM_001278298.1
NP_694996.5, NM_153264.6 [A8TX70-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.205403

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000312481; ENSP00000309762; ENSG00000172752 [A8TX70-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
256076

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:256076

UCSC genome browser

More...
UCSCi
uc062ntw.1 human [A8TX70-1]

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
EU085556 mRNA Translation: ABW81241.1
AM906078 mRNA Translation: CAP19997.1
AM906079 mRNA Translation: CAP19998.1
AM906080 mRNA Translation: CAP19999.1
AM906081 mRNA Translation: CAP20000.1
AM906082 mRNA Translation: CAP20001.1
AM906083 mRNA Translation: CAP20002.1
AM906084 mRNA Translation: CAP20003.1
AC093004 Genomic DNA No translation available.
AC117398 Genomic DNA No translation available.
AK093199 mRNA Translation: BAC04092.1 Sequence problems.
AK123718 mRNA Translation: BAC85681.1 Different initiation.
RefSeqiNP_001265227.1, NM_001278298.1
NP_694996.5, NM_153264.6 [A8TX70-2]
UniGeneiHs.205403

3D structure databases

ProteinModelPortaliA8TX70
SMRiA8TX70
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129134, 1 interactor
STRINGi9606.ENSP00000265379

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

iPTMnetiA8TX70
PhosphoSitePlusiA8TX70

Proteomic databases

EPDiA8TX70
PaxDbiA8TX70
PRIDEiA8TX70
ProteomicsDBi2486
2487 [A8TX70-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
256076
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312481; ENSP00000309762; ENSG00000172752 [A8TX70-1]
GeneIDi256076
KEGGihsa:256076
UCSCiuc062ntw.1 human [A8TX70-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
256076
DisGeNETi256076
EuPathDBiHostDB:ENSG00000172752.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL6A5

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0003678
HGNCiHGNC:26674 COL6A5
HPAiHPA043138
MIMi611916 gene
neXtProtiNX_A8TX70
OpenTargetsiENSG00000172752
PharmGKBiPA165696956

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000162990
HOVERGENiHBG107743
InParanoidiA8TX70
KOiK06238
OMAiKCFPNAC
PhylomeDBiA8TX70

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

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

More...
GenomeRNAii
256076

Protein Ontology

More...
PROi
PR:A8TX70

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000172752 Expressed in 38 organ(s), highest expression level in upper lobe of left lung
ExpressionAtlasiA8TX70 baseline and differential
GenevisibleiA8TX70 HS

Family and domain databases

Gene3Di3.40.50.410, 9 hits
InterProiView protein in InterPro
IPR008160 Collagen
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 4 hits
PF00092 VWA, 9 hits
SMARTiView protein in SMART
SM00327 VWA, 9 hits
SUPFAMiSSF53300 SSF53300, 10 hits
PROSITEiView protein in PROSITE
PS50234 VWFA, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO6A5_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: A8TX70
Secondary accession number(s): A9J6L2
, A9J6L4, A9J6L6, A9J6L7, A9J6M0, A9J6M1, A9J6M2, B5MEA7, Q6ZW26, Q8NA36
<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: May 20, 2008
Last sequence update: January 15, 2008
Last modified: December 5, 2018
This is version 101 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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