PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6; PLEKHA6

Alternative titles; symbols

• PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 3; PEPP3
• KIAA0969

HGNC Approved Gene Symbol: PLEKHA6

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,218,852-204,378,376 (from NCBI)

▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (1999) cloned a full-length cDNA encoding PEPP3, which they designated KIAA0969. The deduced protein contains 1,048 amino acids. RT-PCR ELISA detected expression of PEPP3 in all tissues examined. Expression was highest in whole adult brain, heart, and kidney, intermediate in liver, pancreas, testis, ovary, and fetal brain, and lowest in lung, skeletal muscle, spleen, and fetal liver. PEPP3 was expressed at high levels in all specific adult brain regions examined except corpus callosum, which showed intermediate expression.

By searching an EST database using PEPP1 (PLEKHA4; 607769) as query, Dowler et al. (2000) identified PEPP3. PEPP3 contains an N-terminal pleckstrin homology (PH) domain. It shares significant homology with PEPP1 and PEPP2 (607770) only in the PH domain. Northern blot analysis did not detect PEPP3 expression, but PEPP3 ESTs were derived from brain, colon, mammary gland, and skeletal muscle.

▼ Mapping
The International Radiation Hybrid Mapping Consortium mapped the PLEKHA6 gene to chromosome 1 (stSG32064).