ID PKHA4_HUMAN Reviewed; 779 AA. AC Q9H4M7; Q8N4M8; Q8N658; DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot. DT 29-MAR-2004, sequence version 2. DT 05-OCT-2010, entry version 78. DE RecName: Full=Pleckstrin homology domain-containing family A member 4; DE Short=PH domain-containing family A member 4; DE AltName: Full=Phosphoinositol 3-phosphate-binding protein 1; DE Short=PEPP-1; GN Name=PLEKHA4; Synonyms=PEPP1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE RP SPECIFICITY. RX MEDLINE=21061410; PubMed=11001876; DOI=10.1042/0264-6021:3510019; RA Dowler S.J., Currie R.A., Campbell D.G., Deak M., Kular G., RA Downes C.P., Alessi D.R.; RT "Identification of pleckstrin-homology-domain-containing proteins with RT novel phosphoinositide-binding specificities."; RL Biochem. J. 351:19-31(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT RP VAL-37. RC TISSUE=Brain, Melanoma, and Uterus; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Binds specifically to phosphatidylinositol-3-phosphate CC (PtdIns3P), but not to other phosphoinositides. CC -!- SUBCELLULAR LOCATION: Cytoplasm (Probable). Membrane; Peripheral CC membrane protein (Probable). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q9H4M7-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9H4M7-2; Sequence=VSP_009770, VSP_009771, VSP_009772; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Highly expressed in melanoma. Detected at low CC levels in heart, skeletal muscle, kidney, liver and small CC intestine. CC -!- SIMILARITY: Contains 1 PH domain. CC -!- SEQUENCE CAUTION: CC Sequence=AAH33832.1; Type=Erroneous initiation; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AY007233; AAG01896.1; -; mRNA. DR EMBL; BC024157; AAH24157.1; -; mRNA. DR EMBL; BC033832; AAH33832.1; ALT_INIT; mRNA. DR EMBL; BC064601; AAH64601.1; -; mRNA. DR IPI; IPI00297116; -. DR IPI; IPI00410107; -. DR RefSeq; NP_001154826.1; -. DR RefSeq; NP_065955.2; -. DR UniGene; Hs.9469; -. DR PDB; 1UPQ; X-ray; 1.48 A; A=45-167. DR PDB; 1UPR; X-ray; 2.27 A; A=45-167. DR PDBsum; 1UPQ; -. DR PDBsum; 1UPR; -. DR ProteinModelPortal; Q9H4M7; -. DR IntAct; Q9H4M7; 4. DR MINT; MINT-1385341; -. DR STRING; Q9H4M7; -. DR PRIDE; Q9H4M7; -. DR Ensembl; ENST00000263265; ENSP00000263265; ENSG00000105559. DR GeneID; 57664; -. DR KEGG; hsa:57664; -. DR UCSC; uc002pkx.1; human. DR UCSC; uc010eml.1; human. DR CTD; 57664; -. DR GeneCards; GC19M049340; -. DR HGNC; HGNC:14339; PLEKHA4. DR MIM; 607769; gene. DR PharmGKB; PA33404; -. DR eggNOG; prNOG05726; -. DR HOGENOM; HBG564650; -. DR HOVERGEN; HBG082146; -. DR InParanoid; Q9H4M7; -. DR OMA; ATEASQW; -. DR OrthoDB; EOG9BCH6Q; -. DR PhylomeDB; Q9H4M7; -. DR NextBio; 64442; -. DR ArrayExpress; Q9H4M7; -. DR Bgee; Q9H4M7; -. DR CleanEx; HS_PLEKHA4; -. DR Genevestigator; Q9H4M7; -. DR GermOnline; ENSG00000105559; Homo sapiens. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005545; F:phosphatidylinositol binding; NAS:UniProtKB. DR InterPro; IPR011993; PH_type. DR InterPro; IPR001849; Pleckstrin_homology. DR Gene3D; G3DSA:2.30.29.30; PH_type; 1. DR Pfam; PF00169; PH; 1. DR SMART; SM00233; PH; 1. DR PROSITE; PS50003; PH_DOMAIN; 1. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Complete proteome; Cytoplasm; KW Lipid-binding; Membrane; Polymorphism. FT CHAIN 1 779 Pleckstrin homology domain-containing FT family A member 4. FT /FTId=PRO_0000053880. FT DOMAIN 54 153 PH. FT COMPBIAS 162 353 Pro-rich. FT VAR_SEQ 325 349 Missing (in isoform 2). FT /FTId=VSP_009770. FT VAR_SEQ 582 608 APVARPRMSAQEQLERMRRNQECGRPF -> SKEHHPLLAD FT FRRSPGAGSQPLPSPGY (in isoform 2). FT /FTId=VSP_009771. FT VAR_SEQ 609 779 Missing (in isoform 2). FT /FTId=VSP_009772. FT VARIANT 37 37 I -> V (in dbSNP:rs506425). FT /FTId=VAR_056667. FT VARIANT 597 597 R -> Q (in dbSNP:rs12460394). FT /FTId=VAR_056668. FT VARIANT 714 714 T -> A (in dbSNP:rs34460869). FT /FTId=VAR_056669. FT VARIANT 742 742 G -> V (in dbSNP:rs35965411). FT /FTId=VAR_056670. FT CONFLICT 590 590 S -> N (in Ref. 1; AAG01896). FT CONFLICT 779 779 F -> L (in Ref. 1; AAG01896). FT STRAND 55 64 FT STRAND 66 69 FT STRAND 72 80 FT STRAND 83 89 FT STRAND 97 100 FT HELIX 101 103 FT STRAND 105 108 FT STRAND 116 124 FT STRAND 131 134 FT HELIX 138 152 SQ SEQUENCE 779 AA; 85401 MW; 35866CAE2F2C262F CRC64; MEGSRPRSSL SLASSASTIS SLSSLSPKKP TRAVNKIHAF GKRGNALRRD PNLPVHIRGW LHKQDSSGLR LWKRRWFVLS GHCLFYYKDS REESVLGSVL LPSYNIRPDG PGAPRGRRFT FTAEHPGMRT YVLAADTLED LRGWLRALGR ASRAEGDDYG QPRSPARPQP GEGPGGPGGP PEVSRGEEGR ISESPEVTRL SRGRGRPRLL TPSPTTDLHS GLQMRRARSP DLFTPLSRPP SPLSLPRPRS APARRPPAPS GDTAPPARPH TPLSRIDVRP PLDWGPQRQT LSRPPTPRRG PPSEAGGGKP PRSPQHWSQE PRTQAHSGSP TYLQLPPRPP GTRASMVLLP GPPLESTFHQ SLETDTLLTK LCGQDRLLRR LQEEIDQKQE EKEQLEAALE LTRQQLGQAT REAGAPGRAW GRQRLLQDRL VSVRATLCHL TQERERVWDT YSGLEQELGT LRETLEYLLH LGSPQDRVSA QQQLWMVEDT LAGLGGPQKP PPHTEPDSPS PVLQGEESSE RESLPESLEL SSPRSPETDW GRPPGGDKDL ASPHLGLGSP RVSRASSPEG RHLPSPQLGT KAPVARPRMS AQEQLERMRR NQECGRPFPR PTSPRLLTLG RTLSPARRQP DVEQRPVVGH SGAQKWLRSS GSWSSPRNTT PYLPTSEGHR ERVLSLSQAL ATEASQWHRM MTGGNLDSQG DPLPGVPLPP SDPTRQETPP PRSPPVANSG STGFSRRGSG RGGGPTPWGP AWDAGIAPPV LPQDEGAWPL RVTLLQSSF //