• Gene id: 1289

Gene Summary

• Gene Symbol: COL5A1   Gene   UCSC   Ensembl
• Aliases: EDSC, EDSCL1
• Gene name: collagen type V alpha 1 chain
• Alternate names: collagen alpha-1(V) chain, collagen, type V, alpha 1,
• Gene location: 9q34.3 (134641788: 134844842)     Exons: 67     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 602841

Protein Summary

• Protein general information: P20908  
  • Name: Collagen alpha 1(V) chain
  • Length: 1838  
  • Mass: 183560
• Sequence:

  MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTGFCATRRSSKGPDVAY
  RVTKDAQLSAPTKQLYPASAFPEDFSILTTVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLYEDHTGKPGPE
  DYPLFRGINLSDGKWHRIALSVHKKNVTLILDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLL
  FVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEGETYYYEYPYYEDPEDLGKEPTPSKKPVEAA
  KETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEGEENPDQPTDPGAGAE
  IPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPYYDPTSSPSEIGPGMPANQDTIYEGIGGPRG
  EKGQKGEPAIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFR
  FGGGGDAGSKGPMVSAQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPP
  GPAGKPGRRGRAGSDGARGMPGQTGPKGDRGFDGLAGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLP
  GEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPPGQQGNPGAQGLPGPQGAIGPPGEKGPLGKP
  GLPGMPGADGPPGHPGKEGPPGEKGGQGPPGPQGPIGYPGPRGVKGADGIRGLKGTKGEKGEDGFPGFKGDMGIK
  GDRGEIGPPGPRGEDGPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKGSIGFPGFPGANGEKGGR
  GTPGKPGPRGQRGPTGPRGERGPRGITGKPGPKGNSGGDGPAGPPGERGPNGPQGPTGFPGPKGPPGPPGKDGLP
  GHPGQRGETGFQGKTGPPGPPGVVGPQGPTGETGPMGERGHPGPPGPPGEQGLPGLAGKEGTKGDPGPAGLPGKD
  GPPGLRGFPGDRGLPGPVGALGLKGNEGPPGPPGPAGSPGERGPAGAAGPIGIPGRPGPQGPPGPAGEKGAPGEK
  GPQGPAGRDGLQGPVGLPGPAGPVGPPGEDGDKGEIGEPGQKGSKGDKGEQGPPGPTGPQGPIGQPGPSGADGEP
  GPRGQQGLFGQKGDEGPRGFPGPPGPVGLQGLPGPPGEKGETGDVGQMGPPGPPGPRGPSGAPGADGPQGPPGGI
  GNPGAVGEKGEPGEAGEPGLPGEGGPPGPKGERGEKGESGPSGAAGPPGPKGPPGDDGPKGSPGPVGFPGDPGPP
  GEPGPAGQDGPPGDKGDDGEPGQTGSPGPTGEPGPSGPPGKRGPPGPAGPEGRQGEKGAKGEAGLEGPPGKTGPI
  GPQGAPGKPGPDGLRGIPGPVGEQGLPGSPGPDGPPGPMGPPGLPGLKGDSGPKGEKGHPGLIGLIGPPGEQGEK
  GDRGLPGPQGSSGPKGEQGITGPSGPIGPPGPPGLPGPPGPKGAKGSSGPTGPKGEAGHPGPPGPPGPPGEVIQP
  LPIQASRTRRNIDASQLLDDGNGENYVDYADGMEEIFGSLNSLKLEIEQMKRPLGTQQNPARTCKDLQLCHPDFP
  DGEYWVDPNQGCSRDSFKVYCNFTAGGSTCVFPDKKSEGARITSWPKENPGSWFSEFKRGKLLSYVDAEGNPVGV
  VQMTFLRLLSASAHQNVTYHCYQSVAWQDAATGSYDKALRFLGSNDEEMSYDNNPYIRALVDGCATKKGYQKTVL
  EIDTPKVEQVPIVDIMFNDFGEASQKFGFEVGPACFMG

• Structural information:
  • Protein Domains: (72..24-)
    (/note="Laminin-G-like)
    (1609..183-)
    NC1 (/note="Fibrillar-collagen)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00793"-)
  • Interpro: IPR008160  IPR013320  IPR000885  IPR001791  
  • Prosite: PS51461
  • PDB: 1A89 1A9A
  • PDBsum: 1A89 1A9A
  • STRING: ENSP00000360882
• Other Databases: GeneCards:  COL5A1  Malacards:  COL5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030199	collagen fibril organization	IBA	biological process
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0008201	heparin binding	IBA	molecular function
GO:0007155	cell adhesion	IBA	biological process
GO:0005588	collagen type V trimer	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0005588	collagen type V trimer	TAS	cellular component
GO:0048407	platelet-derived growth factor binding	IDA	molecular function
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0035989	tendon development	IEA	biological process
GO:0051128	regulation of cellular component organization	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0030199	collagen fibril organization	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:1903225	negative regulation of endodermal cell differentiation	IDA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0097435	supramolecular fiber organization	IMP	biological process
GO:0035313	wound healing, spreading of epidermal cells	IMP	biological process
GO:0032964	collagen biosynthetic process	IMP	biological process
GO:0032964	collagen biosynthetic process	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	IMP	cellular component
GO:0016477	cell migration	IMP	biological process
GO:0045112	integrin biosynthetic process	IMP	biological process
GO:0043394	proteoglycan binding	IPI	molecular function
GO:0030199	collagen fibril organization	NAS	biological process
GO:0007155	cell adhesion	IMP	biological process
GO:0005588	collagen type V trimer	IMP	cellular component
GO:0048592	eye morphogenesis	IMP	biological process
GO:0043588	skin development	IMP	biological process
GO:0030199	collagen fibril organization	IMP	biological process
GO:0030199	collagen fibril organization	IMP	biological process
GO:0030199	collagen fibril organization	IMP	biological process
GO:0005178	integrin binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Ehlers-Danlos syndrome	KEGG:H00802
Ehlers-Danlos syndrome	KEGG:H00802
Ehlers-Danlos syndrome	PMID:11278977
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq