PLEKHA1

Protein-coding gene in the species Homo sapiens

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; OMA:PLEKHA1 - orthologs

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	10q26.13	Start	122,374,696 bp^[1]
Band	10q26.13	End	122,442,602 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7\|7 F3	Start	130,467,486 bp^[2]
Band	7\|7 F3	End	130,515,042 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

skin of thigh

sperm

Brodmann area 23

skin of hip

middle temporal gyrus

postcentral gyrus

gingival epithelium

synovial joint

endothelial cell

primary visual cortex

Top expressed in

neural layer of retina

decidua

gastrula

ciliary body

olfactory bulb

iris

pineal gland

CA3 field

perirhinal cortex

sciatic nerve

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	PDZ domain binding phosphatidylinositol-3,4-bisphosphate binding protein binding lipid binding
Cellular component	cytoplasm membrane nucleoplasm ruffle membrane extracellular exosome nucleus cytosol plasma membrane
Biological process	B cell receptor signaling pathway roof of mouth 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: 130.47 – 130.52 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

Interactions

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107679 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040268 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1".
^ 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.

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.