PHIP gene

pleckstrin homology domain interacting protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

From UniProt:

Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

From NCBI Gene:

  • DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES

Cytogenetic Location: 6q14.1, which is the long (q) arm of chromosome 6 at position 14.1

Molecular Location: base pairs 78,934,419 to 79,078,298 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 6q14.1, which is the long (q) arm of chromosome 6 at position 14.1
  • BRWD2
  • DCAF14
  • DIDOD
  • ndrp
  • WDR11