PKHA1_MOUSE
ID PKHA1_MOUSE Reviewed; 383 AA.
AC Q8BUL6; Q8BK96; Q8BXU1; Q8VE13;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Pleckstrin homology domain-containing family A member 1;
DE Short=PH domain-containing family A member 1;
DE AltName: Full=Tandem PH domain-containing protein 1;
DE Short=TAPP-1;
GN Name=Plekha1; Synonyms=Tapp1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Thymus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=Czech II; TISSUE=Mammary gland;
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-284 (ISOFORM 2), AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney, and Lung;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: Binds specifically to phosphatidylinositol 3,4-diphosphate
CC (PtdIns3,4P2), but not to other phosphoinositides. May recruit other
CC proteins to the plasma membrane (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with MPDZ and PTPN13. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9HB21}. Cell
CC membrane {ECO:0000250|UniProtKB:Q9HB21}; Peripheral membrane protein
CC {ECO:0000250|UniProtKB:Q9HB21}. Nucleus {ECO:0000250|UniProtKB:Q9HB21}.
CC Note=Locates to the plasma membrane after treatments that stimulate the
CC production of PtdIns3,4P2. {ECO:0000250|UniProtKB:Q9HB21}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8BUL6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8BUL6-2; Sequence=VSP_009764, VSP_009767;
CC -!- DOMAIN: Binds to membranes enriched in PtdIns3,4P2 via the C-terminal
CC PH domain.
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DR EMBL; AK083340; BAC38874.1; -; mRNA.
DR EMBL; BC020017; AAH20017.1; -; mRNA.
DR CCDS; CCDS21907.1; -. [Q8BUL6-2]
DR CCDS; CCDS85434.1; -. [Q8BUL6-1]
DR RefSeq; NP_001333444.1; NM_001346515.1. [Q8BUL6-1]
DR RefSeq; NP_598703.1; NM_133942.2. [Q8BUL6-2]
DR RefSeq; XP_006507212.1; XM_006507149.3.
DR AlphaFoldDB; Q8BUL6; -.
DR SMR; Q8BUL6; -.
DR BioGRID; 221667; 2.
DR iPTMnet; Q8BUL6; -.
DR PhosphoSitePlus; Q8BUL6; -.
DR EPD; Q8BUL6; -.
DR jPOST; Q8BUL6; -.
DR MaxQB; Q8BUL6; -.
DR PeptideAtlas; Q8BUL6; -.
DR PRIDE; Q8BUL6; -.
DR ProteomicsDB; 289502; -. [Q8BUL6-1]
DR ProteomicsDB; 289503; -. [Q8BUL6-2]
DR Antibodypedia; 1178; 180 antibodies from 26 providers.
DR DNASU; 101476; -.
DR Ensembl; ENSMUST00000048180; ENSMUSP00000035375; ENSMUSG00000040268. [Q8BUL6-2]
DR Ensembl; ENSMUST00000075181; ENSMUSP00000074675; ENSMUSG00000040268. [Q8BUL6-1]
DR GeneID; 101476; -.
DR KEGG; mmu:101476; -.
DR UCSC; uc009kar.1; mouse. [Q8BUL6-1]
DR UCSC; uc009kat.1; mouse. [Q8BUL6-2]
DR CTD; 59338; -.
DR MGI; MGI:2442213; Plekha1.
DR VEuPathDB; HostDB:ENSMUSG00000040268; -.
DR GeneTree; ENSGT00940000155157; -.
DR HOGENOM; CLU_055135_2_1_1; -.
DR InParanoid; Q8BUL6; -.
DR OMA; IPWRSED; -.
DR PhylomeDB; Q8BUL6; -.
DR TreeFam; TF329516; -.
DR Reactome; R-MMU-1660499; Synthesis of PIPs at the plasma membrane.
DR BioGRID-ORCS; 101476; 1 hit in 28 CRISPR screens.
DR ChiTaRS; Plekha1; mouse.
DR PRO; PR:Q8BUL6; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q8BUL6; protein.
DR Bgee; ENSMUSG00000040268; Expressed in retinal neural layer and 276 other tissues.
DR ExpressionAtlas; Q8BUL6; baseline and differential.
DR Genevisible; Q8BUL6; MM.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0032587; C:ruffle membrane; ISO:MGI.
DR GO; GO:0008289; F:lipid binding; IEA:UniProtKB-KW.
DR GO; GO:0030165; F:PDZ domain binding; ISO:MGI.
DR GO; GO:0043325; F:phosphatidylinositol-3,4-bisphosphate binding; ISO:MGI.
DR GO; GO:0008209; P:androgen metabolic process; IMP:MGI.
DR GO; GO:0050853; P:B cell receptor signaling pathway; ISO:MGI.
DR GO; GO:0070301; P:cellular response to hydrogen peroxide; ISO:MGI.
DR GO; GO:0045184; P:establishment of protein localization; ISO:MGI.
DR GO; GO:0008210; P:estrogen metabolic process; IGI:MGI.
DR GO; GO:0060325; P:face morphogenesis; IMP:MGI.
DR GO; GO:0008585; P:female gonad development; IGI:MGI.
DR GO; GO:0033327; P:Leydig cell differentiation; IMP:MGI.
DR GO; GO:0001553; P:luteinization; IGI:MGI.
DR GO; GO:0035264; P:multicellular organism growth; IMP:MGI.
DR GO; GO:0051898; P:negative regulation of protein kinase B signaling; ISO:MGI.
DR GO; GO:0014065; P:phosphatidylinositol 3-kinase signaling; ISO:MGI.
DR GO; GO:0048008; P:platelet-derived growth factor receptor signaling pathway; IMP:MGI.
DR GO; GO:0009791; P:post-embryonic development; IMP:MGI.
DR GO; GO:0060021; P:roof of mouth development; IMP:MGI.
DR GO; GO:0031529; P:ruffle organization; ISO:MGI.
DR GO; GO:0048705; P:skeletal system morphogenesis; IMP:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR Gene3D; 2.30.29.30; -; 2.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR Pfam; PF00169; PH; 2.
DR SMART; SM00233; PH; 2.
DR PROSITE; PS50003; PH_DOMAIN; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Lipid-binding; Membrane;
KW Nucleus; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..383
FT /note="Pleckstrin homology domain-containing family A
FT member 1"
FT /id="PRO_0000053874"
FT DOMAIN 7..112
FT /note="PH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 191..289
FT /note="PH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 362..383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 68..115
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009764"
FT VAR_SEQ 301..383
FT /note="MRQARRLSNPCIQRSIPAGLQNPNSLSVLPGPQPPPHIPQPLAATLWSQAVP
FT WRSEEFTNLLPRSSQGTSRSRLSLQESQLPK -> EHSGWPSEPKFTVRPAGAAATASH
FT SPASRSHSLVSGCAMEKRGVYQSLAKVKPGNFKVQTVSPREPASKVTEQALLRPQSKNG
FT PQGEDGEPVDLDDASLPVSDV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_009767"
FT MOD_RES Q8BUL6-2:284
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
SQ SEQUENCE 383 AA; 43371 MW; 6020E5A2F3184C19 CRC64;
MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP SGSSRVGAIK
LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL VEWVNVLNKA IKITVPKQSD
SQPASDSLSR QGDCGKKQVS YRTDIVGGVP IITPTQKEEV NECGESLDRN NLKRSQSHLP
YFAPKPPSDS AVIKAGYCVK QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV
HKVQECKQSD IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSSSS
MRQARRLSNP CIQRSIPAGL QNPNSLSVLP GPQPPPHIPQ PLAATLWSQA VPWRSEEFTN
LLPRSSQGTS RSRLSLQESQ LPK
