Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Col4a5. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Col4a5
  • is located in the following cellular components:
    • basal lamina ^[6]
    • basement membrane ^{[1, 3, 4, 5, 7]}
    • collagen type IV ^[8]
    • neuromuscular junction ^[6]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Col4a5
  • participates in the following biological processes:
    • neuromuscular junction development ^[2]

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col4a5 indicates that it:
  • is located in the following cellular components:
    • collagen

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References

1. Bai X et al. (2009) Developmental distribution of collagen IV isoforms and relevance to ocular diseases. Matrix Biol, 28:194-201. (PubMed:19275937)
2. Fox MA et al. (2007) Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals. Cell, 129:179-93. (PubMed:17418794)
3. Lu W et al. (1999) Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics, 61:113-24. (PubMed:10534397)
4. Manabe R et al. (2008) Transcriptome-based systematic identification of extracellular matrix proteins. Proc Natl Acad Sci U S A, 105:12849-54. (PubMed:18757743)
5. Nagai N et al. (2001) Localization of type IV collagen a 1 to a 6 chains in basement membrane during mouse molar germ development. Int J Dev Biol, 45:827-31. (PubMed:11732842)
6. Noakes PG et al. (1995) Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. Nature, 374:258-62. (PubMed:7885444)
7. Qin P et al. (1997) Localization of basement membrane-associated protein isoforms during development of the ocular surface of mouse eye. Dev Dyn, 209:367-76. (PubMed:9264260)
8. Shindo T et al. (2002) Kruppel-like zinc-finger transcription factor KLF5/BTEB2 is a target for angiotensin II signaling and an essential regulator of cardiovascular remodeling. Nat Med, 8:856-63. (PubMed:12101409)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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