Gene Gene information from NCBI Gene database.
Entrez ID 1289
Gene name Collagen type V alpha 1 chain
Gene symbol COL5A1
Synonyms (NCBI Gene)
EDSCEDSCL1FMDMF
Chromosome 9
Chromosome location 9q34.3
Summary This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appea
SNPs SNP information provided by dbSNP.
95
SNP ID Visualize variation Clinical significance Consequence
rs35002351 G>- Pathogenic Splice acceptor variant, non coding transcript variant, coding sequence variant
rs61736827 C>G,T Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs121912933 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs139070070 C>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant
rs140797509 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
665
miRTarBase ID miRNA Experiments Reference
MIRT029467 hsa-miR-26b-5p Microarray 19088304
MIRT037642 hsa-miR-744-5p CLASH 23622248
MIRT053211 hsa-miR-145-5p ImmunohistochemistryMicroarrayqRT-PCRWestern blot 23108408
MIRT053642 hsa-miR-143-3p Microarray 22942087
MIRT479025 hsa-miR-6760-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0003007 Process Heart morphogenesis IEA
GO:0005178 Function Integrin binding NAS 14970208
GO:0005201 Function Extracellular matrix structural constituent IEA
GO:0005515 Function Protein binding IPI 20979576, 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120215 2209 ENSG00000130635
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20908
Protein name Collagen alpha-1(V) chain
Protein function Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
PDB 7Y37
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 467 519 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 557 618 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 742 810 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1465 1531 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1513 1575 Collagen triple helix repeat (20 copies) Repeat
PF01410 COLFI 1607 1836 Fibrillar collagen C-terminal domain Family
Sequence
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTG
FCATRRSSKGPDVAYRVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIY
NEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHY
SPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPY
YDPTSSPSEIGPGMPANQDTIYEGIGGPRGEKGQKGEPAIIEPGMLIEGPPGPEGPAGLP
GPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTM
LMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
GPAGKPGRRGRAGSDGAR
GMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDD
GERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPP
GPQGPIGYPGPRGVKGADGIRGLKGTKGEK
GEDGFPGFKGDMGIKGDRGEIGPPGPRGED
GPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFP
GPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPP
GPPGEQGLPGLAGKEGTKGDPGPAGLPGKDGPPGLRGFPGDRGLPGPVGALGLKGNEGPP
GPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGLQGPV
GLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPS
GAPGADGPQGPPGGIGNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAA
GPPGPKGPPGDDGPKGSPGPVGFPGDPGPPGEPGPAGQDGPPGDKGDDGEPGQTGSPGPT
GEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPIGPQGAPGKPGPDGLR
GIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
GDRGLPGPQGSS
GPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHP
GPPGPPGPPGEVIQP
LPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKL
EIEQMKRPLGTQQNPARTCKDLQLCHPDFPDGEYWVDPNQGCSRDSFKVYCNFTAGGSTC
VFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGVVQMTFLRLLSASAHQ
NVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACF
MG
Sequence length 1838
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells
Protein digestion and absorption
  Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4975
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrophic scars Likely pathogenic rs1554726245 RCV000626598
Cigarette-paper scars Likely pathogenic rs1554726245 RCV000626598
COL5A1-related disorder Pathogenic; Likely pathogenic rs794727760, rs2490690864, rs2490665880, rs2490501351 RCV003398899
RCV003397469
RCV003982738
RCV003982557
Connective tissue disorder Likely pathogenic rs1554787779 RCV000659441
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Conflicting classifications of pathogenicity; Uncertain significance rs372168541, rs377488010, rs771146636, rs1835824786, rs750450695, rs755260686 RCV001270606
RCV000852013
RCV000851983
RCV001270602
RCV001270542
RCV001270554
Abnormal digit morphology Uncertain significance rs1554805125 RCV000626597
Acute myeloid leukemia Benign; Likely benign rs34469754, rs11103472, rs2228560, rs183495554, rs62571404 RCV005917023
RCV005924532
RCV005890637
RCV005890649
RCV005904095
Adrenocortical carcinoma, hereditary Benign; Likely benign; Conflicting classifications of pathogenicity rs2228560, rs576332528 RCV005890640
RCV005892421
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 38497425
Adenocarcinoma of Lung Associate 38015097
Aneurysm Associate 26918470
Anterior Cruciate Ligament Injuries Associate 34572072
Aortic Diseases Associate 33414558
Atrial Fibrillation Stimulate 32778054
Behcet Syndrome Associate 33124559
Bicuspid Aortic Valve Disease Associate 36071494
Blood Coagulation Disorders Associate 37427422
Brain Infarction Associate 37427422