COL6A5 (collagen type VI alpha 5 chain)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 256076
Gene name Collagen type VI alpha 5 chain
Gene symbol COL6A5
Synonyms (NCBI Gene)
COL29A1VWA4
Chromosome 3
Chromosome location 3q22.1
Summary This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Pol
miRNA miRNA information provided by mirtarbase database.
19
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
miRTarBase ID miRNA Experiments Reference
MIRT019045 hsa-miR-335-5p Microarray 18185580
MIRT903158 hsa-miR-1266 CLIP-seq
MIRT903159 hsa-miR-3646 CLIP-seq
MIRT903160 hsa-miR-3664-3p CLIP-seq
MIRT903161 hsa-miR-4277 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19478074
GO:0005576 Component Extracellular region IDA 18400749
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611916 26674 ENSG00000172752
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8TX70
Protein name Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4)
Protein function Collagen VI acts as a cell-binding protein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 30 → 204 von Willebrand factor type A domain Domain
PF00092 VWA 236 → 408 von Willebrand factor type A domain Domain
PF00092 VWA 442 → 611 von Willebrand factor type A domain Domain
PF00092 VWA 628 → 796 von Willebrand factor type A domain Domain
PF00092 VWA 814 → 986 von Willebrand factor type A domain Domain
PF00092 VWA 1005 → 1174 von Willebrand factor type A domain Domain
PF01391 Collagen 1393 → 1448 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1464 → 1523 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1522 → 1581 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1566 → 1638 Collagen triple helix repeat (20 copies) Repeat
PF00092 VWA 1758 → 1933 von Willebrand factor type A domain Domain
PF00092 VWA 1963 → 2144 von Willebrand factor type A domain Domain
PF00092 VWA 2291 → 2473 von Willebrand factor type A domain Domain
Tissue specificity TISSUE SPECIFICITY: 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 spin
Sequence 
MKILLIIFVLIIWTETLADQSPGPGPVYADVVFLVDSSDHLGPKSFPFVKTFINKMINSL
PIEANKYRVALAQYSDEFHSEFHLSTFKGRSPMLNHLKKNFQFIGGSLQIGKALQEAHRT
YFSAPINGRDRKQFPPILVVLASAESEDEVEEASKALQKDGVKIISVGVQKASEENLKAM
ATSHFHFNLRTIRDLSTFSQNMTQIIKDVTKYKEGAVDADMQVHFPISCQKDSLADLVFL
VDESLGTGGNLRHLQTFLENITSSMDVKENCMRLGLMSYSNSAKTISFLKSSTTQSEFQQ
QIKNLSIQVGKSNTGAAIDQMRRDGFSESYGSRRAQGVPQIAVLVTHRPSDDEVHDAALN
LRLEDVNVFALSIQGANNTQLEEIVSYPPEQTISTLKSYADLETYSTKFLKKLQNEIWSQ
ISTYAEQRNLDKTGCVDTKEADIHFLIDGSSSIQEKQFEQIKRFMLEVTEMFSIGPDKVR
VGVVQYSDDTEVEFYITDYSNDIDLRKAIFNIKQLTGGTYTGKALDYILQIIKNGMKDRM
SKVPCYLIVLTDGMSTDRVVEPAKRLRAEQITVHAVGIGAANKIELQEIAGKEERVSFGQ
NFDALKSIKNEVVREICAEKGCEDMKADIMFLVDSSWSIGNENFRKMKIFMKNLLTKIQI
GADKTQIGVVQFSDKTKEEFQLNRYFTQQEISDAIDRMSLINEGTLTGKALNFVGQYFTH
SKGARLGAKKFLILITDGVAQDDVRDPARILRGKDVTIFSVGVYNANRSQLEEISGDSSL
VFHVENFDHLKALERKLIFRVCALHDCKRITLLDVVFVLDHSGSIKKQYQDHMINLTIHL
VKKADVGRDRVQFGALKYSDQPNILFYLNTYSNRSAIIENLRKRRDTGGNTYTAKALKHA
NALFTEEHGSRIKQNVKQMLIVITDGESHDHDQLNDTALELRNKGITIFAVGVGKANQKE
LEGMAGNKNNTIYVDNFDKLKDVFTLVQERMCTEAPEVCHLQEADVIFLCDGSDRVSNSD
FVTMTTFLSDLIDNFDIQSQRMKIGMAQFGSNYQSIIELKNSLTKTQWKTQIQNVSKSGG
FPRIDFALKKVSNMFNLHAGGRRNAGVPQTLVVITSGDPRYDVADAVKTLKDLGICVLVL
GIGDVYKEHLLPITGNSEKIITFQDFDKLKNVDVKKRIIREICQSCGKTNCFMDIVVGFD
ISTHVQGQPLFQGHPQLESYLPGILEDISSIKGVSCGAGTEAQVSLAFKVNSDQGFPAKF
QIYQKAVFDSLLQVNVSGPTHLNAQFLRSLWDTFKDKSASRGQVLLIFSDGLQSESNIML
ENQSDRLREAGLDALLVVSLNTTAHHEFSSFEFGKRFDYRTHLTIGMRELGKKLSQYLGN
IAERTCCCTFCKCPGIPGPHGTRGLQAMKGSQGLKGSRGHRGEDGNPGVRGDTGPQGDKG
IAGCPGAWGQKGLKGFSGPKGGHGDDGIDGLDGEEGCHGFPGIKGEKGDPGSQGSPGSRG
APGQYGEKGFPGDPGNPGQNNNIKGQKGSKGEQGRQGRSGQKGVQGSPSSRGSRGREGQR
GLRGVSGEPGNPGPTGTLGAEGLQGPQGSQGNPGRKGEKGSQGQKGPQGSPGLMGAKGST
GRPGLLGKKGEPGLPGDLGPVGQTGQRGRQGDSGIPGYGQMGRKGVKGPRGFPGDAGQKG
DIGNPGIPGGPGPKGFRGLALTVGLKGEEGSRGLPGPPGQRGIKGMAGQPVYSQCDLIRF
LREHSPCWKEKCPAYPTELVFALDNSYDVTEESFNKTRDIITSIVNDLNIRENNCPVGAR
VAMVSYNSGTSYLIRWSDYNRKKQLLQQLSQIKYQDTTEPRDVGNAMRFVTRNVFKRTYA
GANVRRVAVFFSNGQTASRSSIITATMEFSALDISPTVFAFDERVFLEAFGFDNTGTFQV
IPVPPNGENQTLERLRRCALCYDKCFPNACIREAFLPEDSYMDVVFLIDNSRNIAKDEFK
AVKALVSSVIDNFNIASDPLISDSGDRIALLSYSPWESSRRKMGTVKTEFDFITYDNQLL
MKNHIQTSFQQLNGEATIGRALLWTTENLFPETPYLRKHKVIFVVSAGENYERKEFVKMM
ALRAKCQGYVIFVISLGSTRKDDMEELASYPLDQHLIQLGRIHKPDLNYIAKFLKPFLYS
VRRGFNQYPPPMLEDACRLINLGGENIQNDGFQFVTELQEDFLGGNGFIGQELNSGRESP
FVKTEDNGSDYLVYLPSQMFEPQKLMINYEKDQKSAEIASLTSGHENYGRKEEPDHTYEP
GDVSLQEYYMDVAFLIDASQRVGSDEFKEVKAFITSVLDYFHIAPTPLTSTLGDRVAVLS
YSPPGYMPNTEECPVYLEFDLVTYNSIHQMKHHLQDSQQLNGDVFIGHALQWTIDNVFVG
TPNLRKNKVIFVISAGETNSLDKDVLRNVSLRAKCQGYSIFVFSFGPKHNDKELEELASH
PLDHHLVQLGRTHKPDWNYIIKFVKPFVHLIRRAINKYPTEDMKATCVNMTSPNPENGGT
ENTVLLLPGIYEIKTENGDLFDEFDSQAQHLLVLGNNHSSGSETATDLMQKLYLLFSTEK
LAMKDKEKAHLEEISALVVDKQQEKEDKEMEATDI
Sequence length 2615
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection 		  Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs139339125 RCV005929758
COL6A5 POLYMORPHISM Benign rs115375867 RCV001164934
COL6A5-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs190666668, rs139339125, rs187763987, rs75098601, rs115380050, rs56014961, rs370724227, rs181508978, rs115375867 RCV003936641
RCV003946598
RCV003909676
RCV003909833
RCV003941889
RCV003961551
RCV003976543
RCV003962171
RCV003928764
Nonpapillary renal cell carcinoma Benign rs10212372 RCV005915730
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32193401
Arnold Chiari Malformation Associate 33974636
Arthritis Psoriatic Associate 32326527
Asthma Associate 24260339
Dermatitis Atopic Inhibit 17850181
Dermatitis Atopic Associate 20882040, 31275967, 32035984
Diabetes Mellitus Type 1 Associate 37886648
Gingival Diseases Associate 31743516
Hypertension Associate 29217820, 30226566
Ige Responsiveness Atopic Associate 19961619