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

GO curators for mouse genes have assigned the following annotations to the gene product of Abca4. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Abca4
  • participates in the following biological processes:
    • ATP catabolic process ^[2]
    • phospholipid transfer to membrane ^[2]
    • photoreceptor cell maintenance ^[1]
    • visual perception ^[2]
  • performs the following molecular functions:
    • phospholipid transporter activity ^[2]
    • phospholipid-translocating ATPase activity ^[2]

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Summary text based on GO annotations supported by structural data

• Abca4 encodes a protein or proteins that contain the following InterPro domains: AAA+ ATPase domain, ABC transporter A, ABCA, ABC transporter, conserved site, ABC transporter-like, Rim ABC transporter, indicating that the gene product:
  • participates in the following biological processes:
    • transport
  • performs the following molecular functions:
    • ATP binding
    • ATPase activity
    • nucleoside-triphosphatase activity
    • nucleotide binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Abca4 indicates that it:
  • participates in the following biological processes:
    • response to stimulus
    • transport
  • performs the following molecular functions:
    • ATP binding
    • nucleotide binding
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Mata NL et al. (2001) Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci, 42:1685-90. (PubMed:11431429)
2. Weng J et al. (1999) Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 98:13-23. (PubMed:10412977)

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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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