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Protein Coding Gene : C1qbp complement component 1, q subcomponent binding protein

Primary Identifier  MGI:1194505 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  12261
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables mRNA binding activity and mitochondrial ribosome binding activity. Involved in cytosolic ribosome assembly and positive regulation of mitochondrial translation. Located in mitochondrion. Is expressed in several structures, including brain ventricular layer; genitourinary system; gut; orbito-sphenoid; and tooth. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 33. Orthologous to human C1QBP (complement C1q binding protein).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality by E11.5 with poor development, small embryo size, pale and anemic organs, poor cellular proliferation and impaired mitochondrial electron transport chain function. [provided by MGI curators]
  • synonyms:
  • expressed sequence AA986492,
  • C1qbp,
  • AA986492,
  • MGI:2143969,
  • MGI:107870,
  • expressed sequence AA407365,
  • HABP1,
  • AA407365,
  • MGD-MRK-36447,
  • D11Wsu182e,
  • complement component 1, q subcomponent binding protein,
  • P32,
  • MGI:2144060,
  • DNA segment, Chr 11, Wayne State University 182, expressed

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

9 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For