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

GO curators for mouse genes have assigned the following annotations to the gene product of Alms1. (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 November 13, 2012. 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 a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.[provided by RefSeq, Mar 2009]

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

• Researchers have inferred, based on physical interactions, that the gene product of Alms1
  • performs the following molecular functions:
    • alpha-actinin binding ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Alms1
  • participates in the following biological processes:
    • apoptotic process ^[5]
    • calcium-mediated signaling ^[5]
    • cholesterol homeostasis ^[5]
    • cilium assembly ^[5]
    • developmental growth ^[5]
    • epithelial cell proliferation ^[5]
    • establishment of planar polarity ^[4]
    • fat cell differentiation ^[5]
    • glucose homeostasis ^{[1, 2]}
    • inner ear receptor stereocilium organization ^[4]
    • lipid metabolic process ^[2]
    • negative regulation of multicellular organism growth ^[1]
    • ovulation ^[1]
    • regulation of fat cell differentiation ^[2]
    • retinal rod cell development ^[2]
    • sensory perception of sound ^{[1, 2, 4]}
    • spermatid development ^{[1, 5]}
    • triglyceride metabolic process ^[5]

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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 Alms1:
  • participates in the following biological processes:
    • cellular glucose homeostasis
    • endosomal transport
    • regulation of stress fiber assembly
  • is located in the following cellular components:
    • centrosome
    • cilium basal body
    • cytoplasm

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References

1. Arsov T et al. (2006) Fat aussie--a new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis. Mol Endocrinol, 20:1610-22. (PubMed:16513793)
2. Collin GB et al. (2005) Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet, 14:2323-33. (PubMed:16000322)
3. Collin GB et al. (2012) The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One, 7:e37925. (PubMed:22693585)
4. Jagger D et al. (2011) Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet, 20:466-81. (PubMed:21071598)
5. Li G et al. (2007) A Role for Alstrom Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence. PLoS Genet, 3:e8. (PubMed:17206865)

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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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