PLEKHA4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UPQ, 1UPR
Identifiers
Aliases	PLEKHA4, PEPP1, pleckstrin homology domain containing A4
External IDs	OMIM: 607769 MGI: 1916467 HomoloGene: 10848 GeneCards: PLEKHA4
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.33 Start 48,837,097 bp[1] End 48,868,617 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B3 Start 45,175,754 bp[2] End 45,203,653 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve trigeminal ganglion spinal ganglia gastric mucosa ascending aorta left coronary artery anterior pituitary right coronary artery left uterine tube right lobe of thyroid gland Top expressed in sciatic nerve fourth ventricle saccule cochlea extraocular muscle utricle tongue lip external carotid artery esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function lipid binding phosphatidylinositol-3-phosphate binding Cellular component cytoplasm membrane plasma membrane cellular component Biological process phosphatidylinositol biosynthetic process biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57664 69217 Ensembl ENSG00000105559 ENSMUSG00000040428 UniProt Q9H4M7 Q8VC98 RefSeq (mRNA) NM_001161354 NM_020904 NM_148927 NM_001381849 RefSeq (protein) NP_001154826 NP_065955 n/a Location (UCSC) Chr 19: 48.84 – 48.87 Mb Chr 7: 45.18 – 45.2 Mb PubMed search [3] [4]
Wikidata
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Pleckstrin homology domain containing A4 is a protein that in humans is encoded by the PLEKHA4 gene. ^[5]

Function

This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms.

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.