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

GO curators for mouse genes have assigned the following annotations to the gene product of Recql4. (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 July 16, 2007. 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 DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

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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 Recql4
  • participates in the following biological processes:
    • negative regulation of sister chromatid cohesion ^[1]
    • pigmentation ^[1]
    • positive regulation of cell proliferation ^[2]
    • skeletal system development ^[2]
    • skeletal system morphogenesis ^[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 Recql4:
  • participates in the following biological processes:
    • DNA duplex unwinding
    • DNA replication
    • DNA strand renaturation
  • performs the following molecular functions:
    • ATP binding
    • ATP-dependent 3'-5' DNA helicase activity
    • bubble DNA binding

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Summary text based on GO annotations supported by structural data

• Recql4 encodes a protein or proteins that contain the following InterPro domains: DNA helicase, ATP-dependent, RecQ type, DNA replication/checkpoint protein, DNA/RNA helicase, DEAD/DEAH box type, N-terminal, Helicase, C-terminal, Helicase, superfamily 1/2, ATP-binding domain, Zinc finger, CCHC-type, indicating that the gene product:
  • participates in the following biological processes:
    • DNA recombination
  • performs the following molecular functions:
    • ATP-dependent helicase activity
    • helicase activity
    • nucleic acid binding
    • zinc ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Recql4 indicates that it:
  • performs the following molecular functions:
    • helicase activity
    • hydrolase activity
    • metal ion binding
    • nucleotide binding
  • is located in the following cellular components:
    • cytoplasm
    • nucleus

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References

1. Mann MB et al. (2005) Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. Hum Mol Genet, 14:813-25. (PubMed:15703196)
2. Yang J et al. (2006) Recql4 haploinsufficiency in mice leads to defects in osteoblast progenitors: Implications for low bone mass phenotype. Biochem Biophys Res Commun, 344:346-52. (PubMed:16600186)

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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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