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

GO curators for mouse genes have assigned the following annotations to the gene product of Smarcal1. (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 February 9, 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.] The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [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 Smarcal1
  • participates in the following biological processes:
    • ATP catabolic process ^[1]
  • performs the following molecular functions:
    • DNA-dependent ATPase activity ^[1]

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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 Smarcal1:
  • participates in the following biological processes:
    • DNA metabolic process
    • DNA strand renaturation
    • regulation of transcription from RNA polymerase II promoter
  • performs the following molecular functions:
    • annealing helicase activity
    • DNA-dependent ATPase activity
  • is located in the following cellular components:
    • nucleus

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Summary text based on GO annotations supported by structural data

• Smarcal1 encodes a protein or proteins that contain the following InterPro domains: HARP domain, Helicase, C-terminal, Helicase, superfamily 1/2, ATP-binding domain, SNF2-related, indicating that the gene product:
  • participates in the following biological processes:
    • chromatin modification
  • performs the following molecular functions:
    • ATP binding
    • DNA binding
    • helicase activity
    • nucleic acid binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Smarcal1 indicates that it:
  • performs the following molecular functions:
    • ATP binding
    • helicase activity
    • hydrolase activity
    • nucleotide binding

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References

1. Coleman MA et al. (2000) Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse Genomics, 65:274-82. (PubMed:10857751)

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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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