HuLPr15953

Uniprot ID

CO6A1_HUMAN

Uniprot Acc

P12109;O00117;O00118;Q14040;Q14041;Q16258;Q7Z645;Q9BSA8;

Protein name

Collagen alpha-1(VI) chain

Comment

FUNCTION:Collagen VI acts as a cell-binding protein.||SUBUNIT:Trimers composed of three different chains:alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).||SUBCELLULAR LOCATION:Secreted, extracellular space, extracellular matrix (By similarity).||PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.||DISEASE:Defects in COL6A1 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.||DISEASE:Defects in COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical c

Subcellular localization

Secreted, extracellular space, extracellular matrix(By similarity).

Gene name

collagen, type VI, alpha 1

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFF VLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYR CDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVD AVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVT DGHPLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHL EPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTI VDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKP GLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSR GPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFD GIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPS GDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGER GPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEA GPIGPKGYRGDEGPPGSEGARGAPGPAGPPGDPGLMGER GEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKG DEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQ GPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSES IGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQ YSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFT GEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLN VLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPSQ GRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTC PITFSSPADITILLDGSASVGSHNFDTTKRFAKRLAERF LTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYT ALASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKK RLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGR QVNEPHIRVLVTGKTAEYDVAYGE

Database cross reference

RefSeq Protein accession:NP_001839
RefSeq Protein gi:87196339

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Liver Organelles;Human Fetal Liver;

GO:0005589;C:collagen type VI;NAS:UniProtKB. GO:0043234;C:protein complex;IPI:MGI.

GO-F

GO:0048407;F:platelet-derived growth factor binding;IDA:MGI.

GO-P

GO:0007411;P:axon guidance;TAS:Reactome. GO:0007155;P:cell adhesion;NAS:UniProtKB. GO:0070208;P:protein heterotrimerization;IPI:MGI.