• Gene id: 1282

Gene Summary

• Gene Symbol: COL4A1   Gene   UCSC   Ensembl
• Aliases: BSVD, BSVD1, COL4A1s, PADMAL, RATOR
• Gene name: collagen type IV alpha 1 chain
• Alternate names: collagen alpha-1(IV) chain, COL4A1 NC1 domain, arresten, collagen IV, alpha-1 polypeptide, collagen of basement membrane, alpha-1 chain,
• Gene location: 13q34 (139678049: 139560179)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal
• OMIM: 120130

Protein Summary

• Protein general information: P02462  
  • Name: Collagen alpha 1(IV) chain [Cleaved into: Arresten]
  • Length: 1669  
  • Mass: 160611
  • Tissue specificity: Highly expressed in placenta. {ECO
• Sequence:

  MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPP
  GQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGPPGLPGFAGNPGPP
  GLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQ
  GPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
  PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGL
  PVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQ
  PGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPG
  AKGEPGEFYFDLRLKGDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDT
  GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRP
  GLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGI
  PGTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIK
  GEKGFPGFPGLDMPGPKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPG
  LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPG
  VPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSPGLPGDKGAKGEKG
  QAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGL
  DGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
  GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPG
  APGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPG
  PYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPP
  GPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
  PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWS
  SLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTL
  KAGELRTHVSRCQVCMRRT

• Structural information:
  • Protein Domains: (1445..166-)
    NC1 (/note="Collagen-IV)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00736"-)
  • Interpro: IPR008160  IPR001442  IPR036954  IPR016187  
  • Prosite: PS51403
  • PDB: 1LI1 5NAX 5NAY 6MPX
  • PDBsum: 1LI1 5NAX 5NAY 6MPX
  • STRING: ENSP00000364979
• Other Databases: GeneCards:  COL4A1  Malacards:  COL4A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005587	collagen type IV trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	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: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:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0005587	collagen type IV trimer	IEA	cellular component
GO:0005604	basement membrane	IC	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	IMP	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	IMP	molecular function
GO:0048514	blood vessel morphogenesis	IMP	biological process
GO:0061333	renal tubule morphogenesis	IMP	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IMP	biological process
GO:0005587	collagen type IV trimer	IMP	cellular component
GO:0007420	brain development	IMP	biological process
GO:0061304	retinal blood vessel morphogenesis	IMP	biological process
GO:0071711	basement membrane organization	IMP	biological process
GO:0071711	basement membrane organization	IMP	biological process
GO:0071711	basement membrane organization	IMP	biological process
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
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:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
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: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:0005604	basement membrane	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04926	Relaxin signaling pathway
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction
hsa05222	Small cell lung cancer
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Porencephaly	KEGG:H00839
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	KEGG:H00579
Brain small vessel disease with hemorrhage	KEGG:H00877
Porencephaly	KEGG:H00839
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps	KEGG:H00579
Brain small vessel disease with hemorrhage	KEGG:H00877
Myocardial infarction	PMID:18077766
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq