EFR3A

The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]

Description

EFR3 homolog A

Tissue specificity

Tissue enhanced (retina)

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

8 (131904093 - 132013642)

Ensembl ID

ENSG00000132294  (ver. 103.38)

Orthologs

Mouse Efr3a: ENSMUSG00000015002

UniProt

Q14156

neXtProt

NX_Q14156

Human splice variants
Mouse splice variants

Protein structure