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Protein Coding Gene : Cavin1 caveolae associated 1

Primary Identifier  MGI:1277968 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  19285
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables rRNA primary transcript binding activity. Involved in DNA-templated transcription; positive regulation of cell motility; and protein secretion. Located in caveola; endoplasmic reticulum; and nucleus. Is expressed in several structures, including central nervous system; genitourinary system; head mesenchyme; and sensory organ. Used to study congenital generalized lipodystrophy type 4 and pulmonary hypertension. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Orthologous to human CAVIN1 (caveolae associated protein 1).
PHENOTYPE: Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities. [provided by MGI curators]
  • synonyms:
  • Cavin1,
  • MGI:2144560,
  • Cavin,
  • 2310075E07Rik,
  • expressed sequence AW546441,
  • Ptrf,
  • caveolae associated 1,
  • RIKEN cDNA 2310075E07 gene,
  • MGI:1916919,
  • AW546441,
  • cavin-1,
  • polymerase I and transcript release factor

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 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

10 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