Homo sapiens Gene: COL4A5
Summary
InnateDB Gene IDBG-82044.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL4A5
Gene Name collagen, type IV, alpha 5
Synonyms ASLN; ATS; CA54
Species Homo sapiens
Ensembl Gene ENSG00000188153
Encoded Proteins
collagen, type IV, alpha 5
collagen, type IV, alpha 5
collagen, type IV, alpha 5
collagen, type IV, alpha 5
collagen, type IV, alpha 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:108439844-108697545
Strand Forward strand
Band q22.3
Transcripts
ENST00000328300 ENSP00000331902
ENST00000361603 ENSP00000354505
ENST00000477429
ENST00000470339
ENST00000483338
ENST00000505728 ENSP00000424137
ENST00000489230
ENST00000510690
ENST00000515658 ENSP00000423520
ENST00000504541 ENSP00000424845
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:0007528 neuromuscular junction development
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:0005587 collagen type IV trimer
GO:0005604 basement membrane
GO:0005605 basal lamina
GO:0005788 endoplasmic reticulum lumen
GO:0031594 neuromuscular junction
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Integrin cell surface interactions pathway
Signaling by PDGF pathway
Anchoring fibril formation pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen biosynthesis and modifying enzymes pathway
Collagen degradation pathway
NCAM1 interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Axon guidance pathway
Signal Transduction pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Laminin interactions pathway
Collagen formation pathway
KEGG
ECM-receptor interaction pathway
Small cell lung cancer pathway
Focal adhesion pathway
Pathways in cancer pathway
Amoebiasis pathway
Protein digestion and absorption pathway
INOH
Integrin signaling pathway pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.369089 Hs.603349
RefSeq NM_000495 NM_033380 XM_005262070 XM_006724616
HUGO
OMIM
CCDS CCDS14543 CCDS35366
HPRD 02363
IMGT
EMBL
GenPept
RNA Seq Atlas