HuLPr15955

Uniprot ID

CO6A3_HUMAN

Uniprot Acc

P12111;Q16501;Q53QF4;Q53QF6;

Protein name

Collagen alpha-3(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).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12111-1; Sequence=Displayed; Name=2; IsoId=P12111-2; Sequence=VSP 001172;||PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.||PTM:The N-terminus is blocked.||DISEASE:Defects in COL6A3 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 COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic m

Subcellular localization

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

Gene name

collagen, type VI, alpha 3

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADI IFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFA LVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQT GKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDG LALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMH MFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDI TAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPI GTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALG FAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVL ISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQH IATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLK PPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIA KVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREV ITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAE GIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKG ADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLR TLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMN LVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDIL GHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREH VPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQA NKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYV SGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFL YKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPE ILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIE DGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAK NADPAELEQIVLSPAFILAAESLP

Database cross reference

RefSeq Protein accession:NP_004360
RefSeq Protein gi:55743098

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

GO:0005589;C:collagen type VI;TAS:ProtInc. GO:0005615;C:extracellular space;IDA:BHF-UCL.

GO-F

GO:0004867;F:serine-type endopeptidase inhibitor activity;IEA:UniProtKB-KW.

GO-P

GO:0007411;P:axon guidance;TAS:Reactome. GO:0007155;P:cell adhesion;IEA:UniProtKB-KW. GO:0007517;P:muscle organ development;TAS:ProtInc.