Entry - *607769 - PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4 - OMIM

 
 
* 607769

PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4


Alternative titles; symbols

PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 1; PEPP1


HGNC Approved Gene Symbol: PLEKHA4

Cytogenetic location: 19q13.33     Genomic coordinates (GRCh38): 19:48,837,097-48,868,617 (from NCBI)


TEXT

▼ Cloning and Expression

By searching EST databases for proteins containing a putative phosphatidylinositol 3,4,5-trisphosphate-binding motif (PPBM), followed by screening a human universal cDNA library, Dowler et al. (2000) obtained a full-length cDNA encoding PLEKHA4, which they designated PEPP1. The deduced 779-amino acid protein contains an N-terminal pleckstrin homology (PH) domain. Northern blot analysis did not detect expression in any normal tissue, but a 3-kb transcript was detected at high levels in a melanoma cancer cell line. Dowler et al. (2000) also identified PEPP1 ESTs in melanoma and melanocyte cDNA libraries, suggesting that expression is likely restricted to melanomas and melanocytes.


▼ Gene Function

Dowler et al. (2000) determined that recombinant PEPP1 showed significant affinity for phosphatidylinositol 3-phosphate in vitro, but it did not bind to any other phosphoinositide examined.


▼ Mapping

By genomic sequence analysis, Dowler et al. (2000) mapped the PLEKHA4 gene to chromosome 19.


▼ REFERENCES

  1. Dowler, S., Currie, R. A., Campbell, D. G., Deak, M., Kular, G., Downes, C. P., Alessi, D. R. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Biochem. J. 351: 19-31, 2000. [PubMed: 11001876, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 5/8/2003
Edit History:
mgross : 05/08/2003
mgross : 5/8/2003

* 607769

PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4


Alternative titles; symbols

PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 1; PEPP1


HGNC Approved Gene Symbol: PLEKHA4

Cytogenetic location: 19q13.33     Genomic coordinates (GRCh38): 19:48,837,097-48,868,617 (from NCBI)


TEXT

Cloning and Expression

By searching EST databases for proteins containing a putative phosphatidylinositol 3,4,5-trisphosphate-binding motif (PPBM), followed by screening a human universal cDNA library, Dowler et al. (2000) obtained a full-length cDNA encoding PLEKHA4, which they designated PEPP1. The deduced 779-amino acid protein contains an N-terminal pleckstrin homology (PH) domain. Northern blot analysis did not detect expression in any normal tissue, but a 3-kb transcript was detected at high levels in a melanoma cancer cell line. Dowler et al. (2000) also identified PEPP1 ESTs in melanoma and melanocyte cDNA libraries, suggesting that expression is likely restricted to melanomas and melanocytes.


Gene Function

Dowler et al. (2000) determined that recombinant PEPP1 showed significant affinity for phosphatidylinositol 3-phosphate in vitro, but it did not bind to any other phosphoinositide examined.


Mapping

By genomic sequence analysis, Dowler et al. (2000) mapped the PLEKHA4 gene to chromosome 19.


REFERENCES

  1. Dowler, S., Currie, R. A., Campbell, D. G., Deak, M., Kular, G., Downes, C. P., Alessi, D. R. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Biochem. J. 351: 19-31, 2000. [PubMed: 11001876] [Full Text: https://doi.org/10.1042/0264-6021:3510019]


Creation Date:
Patricia A. Hartz : 5/8/2003

Edit History:
mgross : 05/08/2003
mgross : 5/8/2003



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 13, 2024