Version 5.4
Homo sapiens Protein: COL4A5
Summary
InnateDB Protein IDBP-82050.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL4A5
Protein Name collagen, type IV, alpha 5
Synonyms ASLN; ATS; CA54;
Species Homo sapiens
Ensembl Protein ENSP00000354505
InnateDB Gene IDBG-82044 (COL4A5)
Protein Structure
UniProt Annotation
Function Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Subcellular Localization Secreted, extracellular space, extracellular matrix, basement membrane.
Disease Associations Alport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269PubMed:10094548, ECO:0000269PubMed:10561141, ECO:0000269PubMed:10563487, ECO:0000269PubMed:10684360, ECO:0000269PubMed:10862091, ECO:0000269PubMed:11004279, ECO:0000269PubMed:11223851, ECO:0000269PubMed:1352287, ECO:0000269PubMed:1363780, ECO:0000269PubMed:1376965, ECO:0000269PubMed:1672282, ECO:0000269PubMed:7599631, ECO:0000269PubMed:7853788, ECO:0000269PubMed:8406498, ECO:0000269PubMed:8651292, ECO:0000269PubMed:8651296, ECO:0000269PubMed:8829632, ECO:0000269PubMed:8940267, ECO:0000269PubMed:9150741, ECO:0000269PubMed:9452056, ECO:0000269PubMed:9848783}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
Tissue Specificity Isoform 2 is found in kidney.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
Biological Process
GO:0007411 axon guidance
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005788 endoplasmic reticulum lumen
Protein Structure and Domains
PDB ID
InterPro IPR001442 Collagen IV, non-collagenous
IPR008160 Collagen triple helix repeat
IPR016187 C-type lectin fold
PFAM PF01413
PF01391
PRINTS
PIRSF
SMART SM00111
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P29400
PhosphoSite PhosphoSite-P29400
TrEMBL H0Y9R8
UniProt Splice Variant
Entrez Gene 1287
UniGene Hs.603349
RefSeq NP_000486
HUGO HGNC:2207
OMIM 303630
CCDS CCDS14543
HPRD 02363
IMGT
EMBL AF199451 AF199452 AK294066 AL031622 AL034369 AL035425 AL136364 CH471120 M31115 M58526 M63455 M63456 M63457 M63458 M63459 M63460 M63461 M63462 M63463 M63464 M63465 M63466 M63467 M63468 M63470 M63471 M63472 M63473 M90464 S59334 S69168 S75903 U04470 U04471 U04472 U04473 U04474 U04476 U04477 U04478 U04479 U04480 U04483 U04485 U04486 U04487 U04488 U04489 U04490 U04491 U04492 U04493 U04494 U04495 U04496 U04497 U04498 U04499 U04500 U04501 U04502 U04503 U04504 U04505 U04506 U04507 U04508 U04509 U04510 U04511 U04512 U04514 U04515 U04516 U04517 U04518 U04519 U04520 Z37153
GenPept AAA51558 AAA52045 AAA52046 AAA99480 AAB33374 AAC27816 AAC60612 AAD13909 AAF66217 BAG57411 CAA22267 CAA85512 CAB90289 CAI43038 EAX02683

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca