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Protein Coding Gene : Sh3kbp1 SH3-domain kinase binding protein 1

Primary Identifier  MGI:1889583 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  58194
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable molecular adaptor activity and ubiquitin protein ligase binding activity. Predicted to be involved in several processes, including positive regulation of B cell activation; regulation of cell shape; and ubiquitin-dependent endocytosis. Predicted to act upstream of or within apoptotic process and endocytosis. Located in cell-cell junction and endocytic vesicle. Is expressed in cerebral cortex intermediate zone; cortical plate; and embryo. Human ortholog(s) of this gene implicated in immunodeficiency 61. Orthologous to human SH3KBP1 (SH3 domain containing kinase binding protein 1).
PHENOTYPE: Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA 5830464D22 gene,
  • Sh3kbp1,
  • MGI:2147886,
  • RIKEN cDNA 1200007H22 gene,
  • AI447724,
  • 1700125L08Rik,
  • MGI:1920887,
  • expressed sequence AI447724,
  • Ruk,
  • MGI:1923337,
  • 1200007H22Rik,
  • MGI:1914697,
  • IN85,
  • Sh3 containing, expressed in astrocytes,
  • RIKEN cDNA 1700125L08 gene,
  • Seta,
  • 5830464D22Rik,
  • SH3-domain kinase binding protein 1

Features --> Cross References

Genome

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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

18 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

 

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0 Driver For