GenomeNet

Database: UniProt
Entry: Q7Z736
LinkDB: Q7Z736
Original site: Q7Z736 
ID   PKHH3_HUMAN             Reviewed;         793 AA.
AC   Q7Z736; C9JQ76; Q59H20; Q96B28; Q9H7D6; Q9NT18;
DT   13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   10-APR-2019, entry version 135.
DE   RecName: Full=Pleckstrin homology domain-containing family H member 3;
DE            Short=PH domain-containing family H member 3;
DE   Flags: Precursor;
GN   Name=PLEKHH3;
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 [LARGE SCALE MRNA] (ISOFORM 4).
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
RP   HIS-547.
RC   TISSUE=Brain;
RA   Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA   Ohara O., Nagase T., Kikuno R.F.;
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16625196; DOI=10.1038/nature04689;
RA   Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA   Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA   Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA   Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA   DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA   Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA   Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA   Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA   Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA   Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA   Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA   Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA   Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA   Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT   "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT   the human lineage.";
RL   Nature 440:1045-1049(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP   HIS-547.
RC   TISSUE=Pancreas, 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).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 593-793.
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, AND IDENTIFICATION
RP   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   [7]
RP   METHYLATION [LARGE SCALE ANALYSIS] AT ARG-638 AND ARG-642, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Colon carcinoma;
RX   PubMed=24129315; DOI=10.1074/mcp.O113.027870;
RA   Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V.,
RA   Aguiar M., Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C.,
RA   Vemulapalli V., Bedford M.T., Comb M.J.;
RT   "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT   methylation.";
RL   Mol. Cell. Proteomics 13:372-387(2014).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q7Z736-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q7Z736-2; Sequence=VSP_029392, VSP_029396, VSP_029398;
CC         Note=No experimental confirmation available.;
CC       Name=3;
CC         IsoId=Q7Z736-3; Sequence=VSP_029395, VSP_029397;
CC         Note=No experimental confirmation available.;
CC       Name=4;
CC         IsoId=Q7Z736-4; Sequence=VSP_029392, VSP_029393, VSP_029394;
CC         Note=No experimental confirmation available.;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAD92176.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
DR   EMBL; AK024672; BAB14956.1; -; mRNA.
DR   EMBL; AB208939; BAD92176.1; ALT_INIT; mRNA.
DR   EMBL; AC067852; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC016062; AAH16062.1; -; mRNA.
DR   EMBL; BC052978; AAH52978.1; -; mRNA.
DR   EMBL; AL137584; CAB70826.1; -; mRNA.
DR   CCDS; CCDS11434.1; -. [Q7Z736-1]
DR   PIR; T46295; T46295.
DR   RefSeq; NP_079203.3; NM_024927.4. [Q7Z736-1]
DR   UniGene; Hs.632251; -.
DR   ProteinModelPortal; Q7Z736; -.
DR   SMR; Q7Z736; -.
DR   BioGrid; 123053; 15.
DR   IntAct; Q7Z736; 3.
DR   MINT; Q7Z736; -.
DR   STRING; 9606.ENSP00000468678; -.
DR   iPTMnet; Q7Z736; -.
DR   PhosphoSitePlus; Q7Z736; -.
DR   SwissPalm; Q7Z736; -.
DR   BioMuta; PLEKHH3; -.
DR   DMDM; 296452865; -.
DR   EPD; Q7Z736; -.
DR   jPOST; Q7Z736; -.
DR   MaxQB; Q7Z736; -.
DR   PaxDb; Q7Z736; -.
DR   PeptideAtlas; Q7Z736; -.
DR   PRIDE; Q7Z736; -.
DR   ProteomicsDB; 69479; -.
DR   ProteomicsDB; 69480; -. [Q7Z736-2]
DR   ProteomicsDB; 69481; -. [Q7Z736-3]
DR   ProteomicsDB; 69482; -. [Q7Z736-4]
DR   Ensembl; ENST00000591022; ENSP00000468678; ENSG00000068137. [Q7Z736-1]
DR   Ensembl; ENST00000591196; ENSP00000467824; ENSG00000068137. [Q7Z736-3]
DR   GeneID; 79990; -.
DR   KEGG; hsa:79990; -.
DR   UCSC; uc002iau.5; human. [Q7Z736-1]
DR   CTD; 79990; -.
DR   DisGeNET; 79990; -.
DR   EuPathDB; HostDB:ENSG00000068137.14; -.
DR   GeneCards; PLEKHH3; -.
DR   HGNC; HGNC:26105; PLEKHH3.
DR   HPA; HPA046234; -.
DR   neXtProt; NX_Q7Z736; -.
DR   OpenTargets; ENSG00000068137; -.
DR   PharmGKB; PA143485577; -.
DR   eggNOG; ENOG410ITZM; Eukaryota.
DR   eggNOG; ENOG410Z45E; LUCA.
DR   GeneTree; ENSGT00940000159764; -.
DR   HOGENOM; HOG000115561; -.
DR   HOVERGEN; HBG052553; -.
DR   InParanoid; Q7Z736; -.
DR   OMA; TFALYEQ; -.
DR   OrthoDB; 478730at2759; -.
DR   PhylomeDB; Q7Z736; -.
DR   ChiTaRS; PLEKHH3; human.
DR   GenomeRNAi; 79990; -.
DR   PRO; PR:Q7Z736; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000068137; Expressed in 154 organ(s), highest expression level in body of pancreas.
DR   ExpressionAtlas; Q7Z736; baseline and differential.
DR   Genevisible; Q7Z736; HS.
DR   GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR   GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR   GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR   Gene3D; 1.20.80.10; -; 1.
DR   Gene3D; 1.25.40.530; -; 1.
DR   Gene3D; 2.30.29.30; -; 2.
DR   InterPro; IPR019749; Band_41_domain.
DR   InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR   InterPro; IPR035963; FERM_2.
DR   InterPro; IPR019748; FERM_central.
DR   InterPro; IPR000299; FERM_domain.
DR   InterPro; IPR000857; MyTH4_dom.
DR   InterPro; IPR038185; MyTH4_dom_sf.
DR   InterPro; IPR011993; PH-like_dom_sf.
DR   InterPro; IPR001849; PH_domain.
DR   InterPro; IPR040105; PKHH1/2/3.
DR   InterPro; IPR000159; RA_dom.
DR   PANTHER; PTHR22903; PTHR22903; 1.
DR   Pfam; PF00373; FERM_M; 1.
DR   Pfam; PF00784; MyTH4; 1.
DR   Pfam; PF00788; RA; 1.
DR   SMART; SM00295; B41; 1.
DR   SMART; SM00139; MyTH4; 1.
DR   SMART; SM00233; PH; 1.
DR   SUPFAM; SSF47031; SSF47031; 1.
DR   PROSITE; PS50057; FERM_3; 1.
DR   PROSITE; PS51016; MYTH4; 1.
DR   PROSITE; PS50003; PH_DOMAIN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Methylation; Phosphoprotein;
KW   Polymorphism; Reference proteome; Signal.
FT   SIGNAL        1     18       {ECO:0000255}.
FT   CHAIN        19    793       Pleckstrin homology domain-containing
FT                                family H member 3.
FT                                /FTId=PRO_0000311108.
FT   DOMAIN       95    199       PH. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00145}.
FT   DOMAIN      237    399       MyTH4. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00359}.
FT   DOMAIN      404    754       FERM. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00084}.
FT   COMPBIAS    757    760       Poly-Ser.
FT   MOD_RES      30     30       Phosphoserine.
FT                                {ECO:0000244|PubMed:18669648}.
FT   MOD_RES     638    638       Omega-N-methylarginine.
FT                                {ECO:0000244|PubMed:24129315}.
FT   MOD_RES     642    642       Omega-N-methylarginine.
FT                                {ECO:0000244|PubMed:24129315}.
FT   VAR_SEQ     471    474       RFEN -> S (in isoform 2 and isoform 4).
FT                                {ECO:0000303|PubMed:14702039,
FT                                ECO:0000303|Ref.2}.
FT                                /FTId=VSP_029392.
FT   VAR_SEQ     514    531       FLFEQAHALLLRGRPPPP -> RGHDFPPACSLGQDCSEI
FT                                (in isoform 4).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_029393.
FT   VAR_SEQ     532    705       Missing (in isoform 4).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_029394.
FT   VAR_SEQ     664    705       YDVLELSTEPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSV
FT                                S -> SLVGVLHRSCAWAWEPRPCPSPGQGRRSPSTVSAMA
FT                                MWPPAS (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_029395.
FT   VAR_SEQ     672    736       EPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSVSYGHVAAC
FT                                QLMGPHTLALRVGESQLLLQSPQV -> VRGRREKGTLAAQ
FT                                APHLCPRATGPTECHVIPHIQNSYPSQTPGVTSPWALTSLE
FT                                PQPPPHTCCES (in isoform 2).
FT                                {ECO:0000303|Ref.2}.
FT                                /FTId=VSP_029396.
FT   VAR_SEQ     706    793       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_029397.
FT   VAR_SEQ     737    793       Missing (in isoform 2).
FT                                {ECO:0000303|Ref.2}.
FT                                /FTId=VSP_029398.
FT   VARIANT     547    547       Q -> H (in dbSNP:rs8071056).
FT                                {ECO:0000269|PubMed:15489334,
FT                                ECO:0000269|Ref.2}.
FT                                /FTId=VAR_061520.
FT   CONFLICT    117    117       P -> L (in Ref. 1; BAB14956).
FT                                {ECO:0000305}.
FT   CONFLICT    123    123       V -> A (in Ref. 1; BAB14956).
FT                                {ECO:0000305}.
SQ   SEQUENCE   793 AA;  85317 MW;  76A85A090F84C4C5 CRC64;
     MPLPGGLWWL LCCRRGFTLL HRDYGDGELS GDGDEDEDEE TFELRTPSPA GGGRGPLEVT
     LTQPVRSGPV SNRLQSWEET WSLIPEKGLP EDDPDIVVKG WLYREPRGGG ARPWLPPRRA
     WFVLTRDSLD QFSSSGKGAR RLGSLVLTSL CSVTGPERRR KETGLWSVTV SGRKHSVRLC
     SPRQAEAERW GVALREVIAS KAPLETPTQL LLRDIQESCG DPEAVALIYL RNPILRHTSG
     ALYAPLLPLP YGVSAPGPGY APLREEAVRL FLALQALEGA RRPGPLMQGV LQTCRDLPAL
     RDELFLQLAK QTSGPAGPPG LPATQDPAAL RYWQLLTCMS CTFRPGGAVR GHLLGHLERT
     EQALPDSELA EYARFIRKAL GRTRGRELVP SLAEISALSQ RQELLCTVHC PGAGACAVAI
     DSHTTAGEVA RELVGRLGLA RSRNAFALYE QRGAQERALA GGTLVADVLT RFENLAAEEA
     GLEDSPDSGW RLCLRLHGPL HPEGLSPDGH ELPFLFEQAH ALLLRGRPPP PDDTLRALAA
     LRLQSLQRDF SPRVPLPRLD RLLPPPAPPR EDPPRPTPRP PPSAALLAGA LWSPGLAKRR
     AERARRGGAG RTAGSIAREG GGGAGTAAAV LGGWKRLRGM GRAEAMAAYL ALAAQCPGFG
     AARYDVLELS TEPGRGAPQK LCLGLGAKAM SLSRPGETEP IHSVSYGHVA ACQLMGPHTL
     ALRVGESQLL LQSPQVEEIM QLVNAYLANP SPERPCSSSS PPCQDLPDTS PPSQRPGLDE
     PQGQSGCLGQ LQD
//
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