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

GO curators for mouse genes have assigned the following annotations to the gene product of Ighmbp2. (This text reflects annotations as of Wednesday, August 14, 2013.)

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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 helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [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 Ighmbp2
  • performs the following molecular functions:
    • ribosome binding ^[3]
  • is located in the following cellular components:
    • axon ^[3]
    • cytoplasm ^[1]
    • growth cone ^[3]
    • neuronal cell body ^[2]
    • nucleus ^[1]
    • perinuclear region of cytoplasm ^[3]
    • ribonucleoprotein complex ^[3]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ighmbp2
  • participates in the following biological processes:
    • spinal cord motor neuron differentiation ^[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 Ighmbp2:
  • participates in the following biological processes:
    • negative regulation of transcription from RNA polymerase II promoter
    • protein homooligomerization
  • performs the following molecular functions:
    • ATP binding
    • ATP-dependent 5'-3' DNA helicase activity
    • ATP-dependent 5'-3' RNA helicase activity
    • DNA binding
    • DNA-dependent ATPase activity
    • ribosome binding
    • RNA binding
    • RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
    • RNA-dependent ATPase activity
    • transcription factor binding
    • tRNA binding
  • is located in the following cellular components:
    • cytoplasm
    • nucleus

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Summary text based on GO annotations supported by structural data

• Ighmbp2 encodes a protein or proteins that contain the following InterPro domains: AAA+ ATPase domain, DNA helicase, putative, DNA-binding protein SMUBP-2, Helicase, superfamily 1/2, ATP-binding domain, P-loop containing nucleoside triphosphate hydrolase, Single-stranded nucleic acid binding R3H, Zinc finger, AN1-type, indicating that the gene product:
  • performs the following molecular functions:
    • nucleic acid binding
    • nucleoside-triphosphatase activity
    • nucleotide binding
    • zinc ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ighmbp2 indicates that it:
  • participates in the following biological processes:
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • helicase activity
    • hydrolase activity
    • metal ion binding
    • nucleotide binding
  • is located in the following cellular components:
    • cell projection

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References

1. de Planell-Saguer M et al. (2009) Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet, 18:2115-26. (PubMed:19299493)
2. Grohmann K et al. (2004) Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet, 13:2031-42. (PubMed:15269181)
3. Guenther UP et al. (2009) IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet, 18:1288-300. (PubMed:19158098)

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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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