PLEKHA1

Pleckstrin homology domain-containing family A member 1 is a protein that in humans is encoded by the PLEKHA1 gene.[5][6][7]

PLEKHA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1EAZ
Identifiers
Aliases	PLEKHA1, TAPP1, pleckstrin homology domain containing A1
External IDs	OMIM: 607772 MGI: 2442213 HomoloGene: 11001 GeneCards: PLEKHA1
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q26.13 Start 122,374,696 bp[1] End 122,442,602 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F3 Start 130,865,756 bp[2] End 130,913,312 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • PDZ domain binding • phosphatidylinositol-3,4-bisphosphate binding • GO:0001948 protein binding • lipid binding Cellular component • cytoplasm • membrane • nucleoplasm • ruffle membrane • extracellular exosome • cell nucleus • cytosol • cell membrane Biological process • B cell receptor signaling pathway • palate development • negative regulation of protein kinase B signaling • luteinization • Leydig cell differentiation • estrogen metabolic process • androgen metabolic process • ruffle organization • multicellular organism growth • establishment of protein localization • skeletal system morphogenesis • post-embryonic development • female gonad development • spermatogenesis • phosphatidylinositol 3-kinase signaling • platelet-derived growth factor receptor signaling pathway • face morphogenesis • cellular response to hydrogen peroxide • phosphatidylinositol biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	59338	101476
Ensembl	ENSG00000107679	ENSMUSG00000040268
UniProt	Q9HB21	Q8BUL6
RefSeq (mRNA)	NM_001001974 NM_001195608 NM_021622 NM_001330178	NM_133942 NM_001346515 NM_001357696 NM_001382373 NM_001382374 NM_001382375 NM_001382376 NM_001382377 NM_001382378 NM_001382379
RefSeq (protein)	NP_001001974 NP_001182537 NP_001317107 NP_067635 NP_001364159 NP_001364160 NP_001364161 NP_001364163 NP_001364164 NP_001364166 NP_001364167 NP_001364169 NP_001364170 NP_001364171 NP_001364172 NP_001364173 NP_001364174 NP_001364175 NP_001364176 NP_001364177 NP_001364178 NP_001364179 NP_001364180 NP_001364181 NP_001364182 NP_001364183 NP_001364184 NP_001364185 NP_001364186 NP_001364187	NP_001333444 NP_598703 NP_001344625 NP_001369302 NP_001369303 NP_001369304 NP_001369305 NP_001369306 NP_001369307 NP_001369308
Location (UCSC)	Chr 10: 122.37 – 122.44 Mb	Chr 7: 130.87 – 130.91 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

PLEKHA1 has been shown to interact with MPDZ.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000107679 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040268 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP, Alessi DR (Jan 2001). "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities". Biochem J. 351 (Pt 1): 19–31. doi:10.1042/0264-6021:3510019. PMC 1221362. PMID 11001876.
6. Hogan A, Yakubchyk Y, Chabot J, Obagi C, Daher E, Maekawa K, Gee SH (Dec 2004). "The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts with syntrophins and regulates actin cytoskeletal organization". J Biol Chem. 279 (51): 53717–24. doi:10.1074/jbc.M410654200. PMID 15485858.
7. "Entrez Gene: PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1".
8. Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM, Alessi DR (Feb 2002). "Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo". Biochem. J. 361 (Pt 3): 525–36. doi:10.1042/0264-6021:3610525. PMC 1222335. PMID 11802782.

Further reading

• Thomas CC, Dowler S, Deak M, Alessi DR, van Aalten DM (2001). "Crystal structure of the phosphatidylinositol 3,4-bisphosphate-binding pleckstrin homology (PH) domain of tandem PH-domain-containing protein 1 (TAPP1): molecular basis of lipid specificity". Biochem. J. 358 (Pt 2): 287–94. doi:10.1042/0264-6021:3580287. PMC 1222060. PMID 11513726.
• Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM, Alessi DR (2002). "Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo". Biochem. J. 361 (Pt 3): 525–36. doi:10.1042/0264-6021:3610525. PMC 1222335. PMID 11802782.
• Marshall AJ, Krahn AK, Ma K, Duronio V, Hou S (2002). "TAPP1 and TAPP2 Are Targets of Phosphatidylinositol 3-Kinase Signaling in B Cells: Sustained Plasma Membrane Recruitment Triggered by the B-Cell Antigen Receptor". Mol. Cell. Biol. 22 (15): 5479–91. doi:10.1128/MCB.22.15.5479-5491.2002. PMC 133950. PMID 12101241.
• Kimber WA, Deak M, Prescott AR, Alessi DR (2003). "Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1". Biochem. J. 376 (Pt 2): 525–35. doi:10.1042/BJ20031154. PMC 1223793. PMID 14516276.
• Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (2006). "Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26". Am. J. Hum. Genet. 77 (3): 389–407. doi:10.1086/444437. PMC 1226205. PMID 16080115.