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Gene id

1282

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

COL4A1 Gene UCSC Ensembl

Aliases

BSVD, 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 (110307156: 110148957) Exons: 54 NC_000013.11

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 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIM

120130

Protein Summary

Protein general information

P02462

Name: Collagen alpha-1(IV) chain [Cleaved into: Arresten]

Length: 1669 Mass: 1,60,615

Tissue specificity: Highly expressed in placenta. {ECO

Sequence

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

Structural information

Protein Domains	Collagen (1445-1669)
Interpro:	IPR008160 IPR001442 IPR036954 IPR016187
Prosite:	PS51403
Pfam:	PF01413 PF01391
PDB:	1LI1
PDBsum:	1LI1
MINT:
STRING:	ENSP00000364979;

Other Databases

GeneCards: COL4A1; Malacards: COL4A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001569	branching involved in blo od vessel morphogenesis	IMP	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	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:0005587	collagen type IV trimer	IMP	cellular_component
GO:0005604	basement membrane	IC	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0007420	brain development	IMP	biological_process
GO:0007528	neuromuscular junction de velopment	IEA	biological_process
GO:0030023	extracellular matrix cons tituent conferring elasti city	IC	molecular_function
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0048407	platelet-derived growth f actor binding	IDA	molecular_function
GO:0048514	blood vessel morphogenesi s	IMP	biological_process
GO:0061304	retinal blood vessel morp hogenesis	IMP	biological_process
GO:0061333	renal tubule morphogenesi s	IMP	biological_process
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0001525	angiogenesis	IEA	biological_process
GO:0001569	branching involved in blo od vessel morphogenesis	IMP	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	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:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005587	collagen type IV trimer	IEA	cellular_component
GO:0005587	collagen type IV trimer	IMP	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IC	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0007420	brain development	IMP	biological_process
GO:0007528	neuromuscular junction de velopment	IEA	biological_process
GO:0030023	extracellular matrix cons tituent conferring elasti city	IC	molecular_function
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0048407	platelet-derived growth f actor binding	IDA	molecular_function
GO:0048514	blood vessel morphogenesi s	IMP	biological_process
GO:0061304	retinal blood vessel morp hogenesis	IMP	biological_process
GO:0061333	renal tubule morphogenesi s	IMP	biological_process
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0001569	branching involved in blo od vessel morphogenesis	IMP	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	IMP	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	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:0005587	collagen type IV trimer	IMP	cellular_component
GO:0005604	basement membrane	IC	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0007420	brain development	IMP	biological_process
GO:0030023	extracellular matrix cons tituent conferring elasti city	IC	molecular_function
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0048407	platelet-derived growth f actor binding	IDA	molecular_function
GO:0048514	blood vessel morphogenesi s	IMP	biological_process
GO:0061304	retinal blood vessel morp hogenesis	IMP	biological_process
GO:0061333	renal tubule morphogenesi s	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0071711	basement membrane organiz ation	IMP	biological_process
GO:0031012	extracellular matrix	ISS	cellular_component

KEGG pathways

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

Diseases

Associated diseases	References
Female infertility	INFBASE11841847
Endometriosis	INFBASE11841847
Schizencephaly	OMIM120130
Porencephaly 1	OMIM120130
Brain small vessel disease with or without ocular anomalies	OMIM120130
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	OMIM120130
Porencephaly	KEGGH00839
Brain small vessel disease with hemorrhage	KEGGH00877
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)	KEGGH00579

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
11841847	Endometrio sis				Female infertility	Collagen IV (C-IV) elastin CD4 CD8 CD29 CD45RO and fibronectin (Fn)	Show abstract