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

GO curators for mouse genes have assigned the following annotations to the gene product of Col4a4. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of March 18, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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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. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]

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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 Col4a4
  • is located in the following cellular components:
    • basement membrane ^{[1, 2, 4, 5]}
    • collagen type IV ^[3]
• Researchers have inferred, based on physical interactions, that the gene product of Col4a4
  • performs the following molecular functions:
    • extracellular matrix structural constituent ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Col4a4
  • participates in the following biological processes:
    • glomerular basement membrane development ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Col4a4:
  • participates in the following biological processes:
    • glomerular basement membrane development
  • performs the following molecular functions:
    • extracellular matrix structural constituent
  • is located in the following cellular components:
    • basal lamina
    • collagen type IV

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Summary text based on GO annotations supported by structural data

• Col4a4 encodes a protein or proteins that contain the following InterPro domains: C-type lectin fold, Collagen IV, non-collagenous, Collagen triple helix repeat, indicating that the gene product:
  • is located in the following cellular components:
    • collagen

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col4a4 indicates that it:
  • is located in the following cellular components:
    • collagen
    • extracellular region
    • proteinaceous extracellular matrix

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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. 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)
3. Miner JH et al. (1994) Collagen IV alpha 3, alpha 4, and alpha 5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches. J Cell Biol, 127:879-91. (PubMed:7962065)
4. 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)
5. 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)

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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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