1. Gene
  2. PLEKHA3 - pleckstrin homology domain containing A3 Gene

PLEKHA3 - pleckstrin homology domain containing A3 Gene

Homo sapiens

Also known as FAPP1

Gene ID: 65977 | Gene type: protein coding

About PLEKHA3

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,480,457-178,516,463 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues and 5 paralogues. Ubiquitous expression in testis (RPKM 2.6), adrenal (RPKM 2.0) and 25 other tissues.

Summary

Enables identical protein binding activity and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHA3 Products(1)

mRNA Protein Name
NM_019091.4 NP_061964.3 pleckstrin homology domain-containing family A member 3

PLEKHA3 Protein Structure

PH

PH: PH domain (1 - 89)

  • 0
  • 100
  • 200
  • 300 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family A member 3

FAPP-1

Related Diseases

Diseases Alias
Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3

RCDP3

Alkyldihydroxyacetonephosphate Synthase Deficiency

Alkylglycerone-Phosphate Synthase Deficiency

Agps Deficiency

Rhizomelic Chondrodysplasia Punctata 3

Chondrodysplasia Punctata, Rhizomelic, Type 3

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLEKHA3 RGD RGD:1305244
Mus musculus PLEKHA3 MGD MGI:1932515
Canis familiaris PLEKHA3 VGNC VGNC:53102
Macaca mulatta PLEKHA3 VGNC VGNC:81505
Felis catus PLEKHA3 VGNC VGNC:80308
Bos taurus PLEKHA3 VGNC VGNC:33005