Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1289
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type V alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL5A1
Synonyms (NCBI Gene) Gene synonyms aliases
EDSC, EDSCL1, FMDMF
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EDSCL1, FMDMF
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT029467 hsa-miR-26b-5p Microarray 19088304
MIRT037642 hsa-miR-744-5p CLASH 23622248
MIRT053211 hsa-miR-145-5p Immunohistochemistry, Microarray, qRT-PCR, Western blot 23108408
MIRT053642 hsa-miR-143-3p Microarray 22942087
MIRT479025 hsa-miR-6760-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IBA 21873635
GO:0005515 Function Protein binding IPI 20979576, 28514442
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120215 2209 ENSG00000130635
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aneurysm, Dissecting rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autoimmune lymphoproliferative disorder Autoimmune Lymphoproliferative Syndrome Type 2B rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365
View all (31 more)
9042913
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome GenCC
Classical-Like Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, classic type, 1 GenCC
Crohn Disease Crohn Disease GWAS
Associations from Text Mining
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