Homo sapiens Gene: COL4A5 | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome X:108439844-108697545 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q22.3 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
ECM-receptor interaction pathway
Small cell lung cancer pathway
Focal adhesion pathway
Pathways in cancer pathway
Amoebiasis pathway
Protein digestion and absorption pathway
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INOH |
Integrin signaling pathway pathway
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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 | |||||||||||||||||||