PKHA6_HUMAN
ID PKHA6_HUMAN Reviewed; 1048 AA.
AC Q9Y2H5; A7MD51; Q5VTI6;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 4.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Pleckstrin homology domain-containing family A member 6;
DE Short=PH domain-containing family A member 6;
DE AltName: Full=Phosphoinositol 3-phosphate-binding protein 3;
DE Short=PEPP-3;
GN Name=PLEKHA6; Synonyms=KIAA0969, PEPP3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-43 AND LYS-837.
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-43 AND LYS-837.
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 [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-848 AND SER-854, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=16964243; DOI=10.1038/nbt1240;
RA Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT "A probability-based approach for high-throughput protein phosphorylation
RT analysis and site localization.";
RL Nat. Biotechnol. 24:1285-1292(2006).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-472 AND SER-867, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-777; SER-867; THR-920 AND
RP SER-940, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-459; SER-461; SER-591;
RP SER-777 AND SER-1017, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP STRUCTURE BY NMR OF 57-160.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the PH domain of PEPP-3 from human.";
RL Submitted (OCT-2007) to the PDB data bank.
CC -!- INTERACTION:
CC Q9Y2H5; Q9H832: UBE2Z; NbExp=3; IntAct=EBI-1171228, EBI-720977;
CC -!- TISSUE SPECIFICITY: Highly expressed in heart, kidney and throughout
CC the brain.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76813.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB023186; BAA76813.2; ALT_INIT; mRNA.
DR EMBL; AL592114; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC152475; AAI52476.1; -; mRNA.
DR CCDS; CCDS1444.1; -.
DR RefSeq; NP_055750.2; NM_014935.4.
DR RefSeq; XP_005245025.2; XM_005244968.4.
DR PDB; 2D9Y; NMR; -; A=57-160.
DR PDB; 2YRY; NMR; -; A=46-160.
DR PDBsum; 2D9Y; -.
DR PDBsum; 2YRY; -.
DR AlphaFoldDB; Q9Y2H5; -.
DR BMRB; Q9Y2H5; -.
DR SMR; Q9Y2H5; -.
DR BioGRID; 116541; 47.
DR IntAct; Q9Y2H5; 9.
DR MINT; Q9Y2H5; -.
DR STRING; 9606.ENSP00000272203; -.
DR GlyGen; Q9Y2H5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y2H5; -.
DR PhosphoSitePlus; Q9Y2H5; -.
DR SwissPalm; Q9Y2H5; -.
DR BioMuta; PLEKHA6; -.
DR DMDM; 160334379; -.
DR EPD; Q9Y2H5; -.
DR jPOST; Q9Y2H5; -.
DR MassIVE; Q9Y2H5; -.
DR MaxQB; Q9Y2H5; -.
DR PaxDb; Q9Y2H5; -.
DR PeptideAtlas; Q9Y2H5; -.
DR PRIDE; Q9Y2H5; -.
DR ProteomicsDB; 85784; -.
DR Antibodypedia; 34556; 114 antibodies from 20 providers.
DR DNASU; 22874; -.
DR Ensembl; ENST00000272203.8; ENSP00000272203.2; ENSG00000143850.16.
DR GeneID; 22874; -.
DR KEGG; hsa:22874; -.
DR MANE-Select; ENST00000272203.8; ENSP00000272203.2; NM_014935.5; NP_055750.2.
DR UCSC; uc001hau.5; human.
DR CTD; 22874; -.
DR DisGeNET; 22874; -.
DR GeneCards; PLEKHA6; -.
DR HGNC; HGNC:17053; PLEKHA6.
DR HPA; ENSG00000143850; Low tissue specificity.
DR MIM; 607771; gene.
DR neXtProt; NX_Q9Y2H5; -.
DR OpenTargets; ENSG00000143850; -.
DR PharmGKB; PA134955964; -.
DR VEuPathDB; HostDB:ENSG00000143850; -.
DR eggNOG; ENOG502QQHD; Eukaryota.
DR GeneTree; ENSGT00940000159692; -.
DR HOGENOM; CLU_008216_0_0_1; -.
DR InParanoid; Q9Y2H5; -.
DR OrthoDB; 71844at2759; -.
DR PhylomeDB; Q9Y2H5; -.
DR TreeFam; TF329090; -.
DR PathwayCommons; Q9Y2H5; -.
DR Reactome; R-HSA-1660499; Synthesis of PIPs at the plasma membrane.
DR SignaLink; Q9Y2H5; -.
DR BioGRID-ORCS; 22874; 6 hits in 1065 CRISPR screens.
DR ChiTaRS; PLEKHA6; human.
DR EvolutionaryTrace; Q9Y2H5; -.
DR GeneWiki; PLEKHA6; -.
DR GenomeRNAi; 22874; -.
DR Pharos; Q9Y2H5; Tbio.
DR PRO; PR:Q9Y2H5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9Y2H5; protein.
DR Bgee; ENSG00000143850; Expressed in C1 segment of cervical spinal cord and 159 other tissues.
DR ExpressionAtlas; Q9Y2H5; baseline and differential.
DR Genevisible; Q9Y2H5; HS.
DR CDD; cd13248; PH_PEPP1_2_3; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR040392; PKHA4-7_PH.
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; Phosphoprotein; Reference proteome.
FT CHAIN 1..1048
FT /note="Pleckstrin homology domain-containing family A
FT member 6"
FT /id="PRO_0000053884"
FT DOMAIN 59..158
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 165..318
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 448..467
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 663..746
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 793..858
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 968..989
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1005..1048
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..21
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 171..185
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 201..232
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 269..289
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 682..727
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 819..833
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1018..1032
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 247
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 251
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 314
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 459
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 461
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 472
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 492
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 591
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 744
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 777
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 784
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 801
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 848
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:16964243"
FT MOD_RES 854
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:16964243"
FT MOD_RES 867
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 920
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 940
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1015
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 1017
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 1020
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 1021
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT MOD_RES 1024
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQG1"
FT VARIANT 43
FT /note="V -> I (in dbSNP:rs10900571)"
FT /evidence="ECO:0000269|PubMed:10231032,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037145"
FT VARIANT 837
FT /note="R -> K (in dbSNP:rs10900562)"
FT /evidence="ECO:0000269|PubMed:10231032,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_037146"
FT STRAND 62..69
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 73..75
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 77..85
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 88..94
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 102..105
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 110..113
FT /evidence="ECO:0007829|PDB:2D9Y"
FT TURN 116..119
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 123..129
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 131..133
FT /evidence="ECO:0007829|PDB:2D9Y"
FT STRAND 135..139
FT /evidence="ECO:0007829|PDB:2D9Y"
FT HELIX 143..155
FT /evidence="ECO:0007829|PDB:2D9Y"
SQ SEQUENCE 1048 AA; 117128 MW; 230F7CB49C9DDF32 CRC64;
MSNKTGGKRP ATTNSDIPNH NMVSEVPPER PSVRATRTAR KAVAFGKRSH SMKRNPNAPV
TKAGWLFKQA SSGVKQWNKR WFVLVDRCLF YYKDEKEESI LGSIPLLSFR VAAVQPSDNI
SRKHTFKAEH AGVRTYFFSA ESPEEQEAWI QAMGEAARVQ IPPAQKSVPQ AVRHSHEKPD
SENVPPSKHH QQPPHNSLPK PEPEAKTRGE GDGRGCEKAE RRPERPEVKK EPPVKANGLP
AGPEPASEPG SPYPEGPRVP GGGEQPAQPN GWQYHSPSRP GSTAFPSQDG ETGGHRRSFP
PRTNPDKIAQ RKSSMNQLQQ WVNLRRGVPP PEDLRSPSRF YPVSRRVPEY YGPYSSQYPD
DYQYYPPGVR PESICSMPAY DRISPPWALE DKRHAFRNGG GPAYQLREWK EPASYGRQDA
TVWIPSPSRQ PVYYDELDAA SSSLRRLSLQ PRSHSVPRSP SQGSYSRARI YSPVRSPSAR
FERLPPRSED IYADPAAYVM RRSISSPKVP PYPEVFRDSL HTYKLNEQDT DKLLGKLCEQ
NKVVREQDRL VQQLRAEKES LESALMGTHQ ELEMFGSQPA YPEKLRHKKD SLQNQLINIR
VELSQATTAL TNSTIEYEHL ESEVSALHDD LWEQLNLDTQ NEVLNRQIQK EIWRIQDVME
GLRKNNPSRG TDTAKHRGGL GPSATYSSNS PASPLSSASL TSPLSPFSLV SGSQGSPTKP
GSNEPKANYE QSKKDPHQTL PLDTPRDISL VPTRQEVEAE KQAALNKVGV VPPRTKSPTD
DEVTPSAVVR RNASGLTNGL SSQERPKSAV FPGEGKVKMS VEEQIDRMRR HQSGSMREKR
RSLQLPASPA PDPSPRPAYK VVRRHRSIHE VDISNLEAAL RAEEPGGHAY ETPREEIARL
RKMELEPQHY DVDINKELST PDKVLIPERY IDLEPDTPLS PEELKEKQKK VERIKTLIAK
SSMQNVVPIG EGDSVDVPQD SESQLQEQEK RIEISCALAT EASRRGRMLS VQCATPSPPT
SPASPAPPAN PLSSESPRGA DSSYTMRV
