PKHH3_HUMAN
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 03-AUG-2022, entry version 152.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 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., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., 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 the
RT 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 project:
RT 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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA 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 BY
RP 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., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA 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 Name=3;
CC IsoId=Q7Z736-3; Sequence=VSP_029395, VSP_029397;
CC Name=4;
CC IsoId=Q7Z736-4; Sequence=VSP_029392, VSP_029393, VSP_029394;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD92176.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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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 AlphaFoldDB; Q7Z736; -.
DR SMR; Q7Z736; -.
DR BioGRID; 123053; 75.
DR IntAct; Q7Z736; 11.
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 MassIVE; Q7Z736; -.
DR MaxQB; Q7Z736; -.
DR PaxDb; Q7Z736; -.
DR PeptideAtlas; Q7Z736; -.
DR PRIDE; Q7Z736; -.
DR ProteomicsDB; 69479; -. [Q7Z736-1]
DR ProteomicsDB; 69480; -. [Q7Z736-2]
DR ProteomicsDB; 69481; -. [Q7Z736-3]
DR ProteomicsDB; 69482; -. [Q7Z736-4]
DR Antibodypedia; 29328; 33 antibodies from 13 providers.
DR DNASU; 79990; -.
DR Ensembl; ENST00000591022.6; ENSP00000468678.1; ENSG00000068137.15. [Q7Z736-1]
DR Ensembl; ENST00000591196.5; ENSP00000467824.1; ENSG00000068137.15. [Q7Z736-3]
DR GeneID; 79990; -.
DR KEGG; hsa:79990; -.
DR MANE-Select; ENST00000591022.6; ENSP00000468678.1; NM_024927.5; NP_079203.4.
DR UCSC; uc002iau.5; human. [Q7Z736-1]
DR CTD; 79990; -.
DR DisGeNET; 79990; -.
DR GeneCards; PLEKHH3; -.
DR HGNC; HGNC:26105; PLEKHH3.
DR HPA; ENSG00000068137; Tissue enhanced (pancreas).
DR neXtProt; NX_Q7Z736; -.
DR OpenTargets; ENSG00000068137; -.
DR PharmGKB; PA143485577; -.
DR VEuPathDB; HostDB:ENSG00000068137; -.
DR eggNOG; KOG4229; Eukaryota.
DR GeneTree; ENSGT00940000159764; -.
DR HOGENOM; CLU_001626_4_0_1; -.
DR InParanoid; Q7Z736; -.
DR OMA; QDSKNTF; -.
DR OrthoDB; 478730at2759; -.
DR PhylomeDB; Q7Z736; -.
DR PathwayCommons; Q7Z736; -.
DR SignaLink; Q7Z736; -.
DR BioGRID-ORCS; 79990; 18 hits in 1078 CRISPR screens.
DR ChiTaRS; PLEKHH3; human.
DR GenomeRNAi; 79990; -.
DR Pharos; Q7Z736; Tdark.
DR PRO; PR:Q7Z736; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q7Z736; protein.
DR Bgee; ENSG00000068137; Expressed in lower esophagus mucosa and 129 other tissues.
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; IPR000159; RA_dom.
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; Methylation; Phosphoprotein; Reference proteome;
KW Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..793
FT /note="Pleckstrin homology domain-containing family H
FT member 3"
FT /id="PRO_0000311108"
FT DOMAIN 95..199
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 237..399
FT /note="MyTH4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00359"
FT DOMAIN 404..754
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 28..62
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 554..586
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 598..622
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 750..793
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 558..583
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 775..793
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 30
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 638
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT MOD_RES 642
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT VAR_SEQ 471..474
FT /note="RFEN -> S (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_029392"
FT VAR_SEQ 514..531
FT /note="FLFEQAHALLLRGRPPPP -> RGHDFPPACSLGQDCSEI (in isoform
FT 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029393"
FT VAR_SEQ 532..705
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029394"
FT VAR_SEQ 664..705
FT /note="YDVLELSTEPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSVS -> SLVGVL
FT HRSCAWAWEPRPCPSPGQGRRSPSTVSAMAMWPPAS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029395"
FT VAR_SEQ 672..736
FT /note="EPGRGAPQKLCLGLGAKAMSLSRPGETEPIHSVSYGHVAACQLMGPHTLALR
FT VGESQLLLQSPQV -> VRGRREKGTLAAQAPHLCPRATGPTECHVIPHIQNSYPSQTP
FT GVTSPWALTSLEPQPPPHTCCES (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_029396"
FT VAR_SEQ 706..793
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029397"
FT VAR_SEQ 737..793
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_029398"
FT VARIANT 547
FT /note="Q -> H (in dbSNP:rs8071056)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_061520"
FT CONFLICT 117
FT /note="P -> L (in Ref. 1; BAB14956)"
FT /evidence="ECO:0000305"
FT CONFLICT 123
FT /note="V -> A (in Ref. 1; BAB14956)"
FT /evidence="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
