PKHG1_HUMAN
ID PKHG1_HUMAN Reviewed; 1385 AA.
AC Q9ULL1; Q5T1F2;
DT 09-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-2005, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Pleckstrin homology domain-containing family G member 1;
GN Name=PLEKHG1; Synonyms=KIAA1209;
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 GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 273-1385.
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1192, 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).
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DR EMBL; AL035086; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL450339; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB033035; BAA86523.1; -; mRNA.
DR CCDS; CCDS34552.1; -.
DR RefSeq; NP_001025055.1; NM_001029884.2.
DR RefSeq; NP_001316729.1; NM_001329800.1.
DR RefSeq; NP_001316730.1; NM_001329801.1.
DR RefSeq; XP_005267122.1; XM_005267065.3.
DR RefSeq; XP_006715584.1; XM_006715521.1.
DR RefSeq; XP_011534285.1; XM_011535983.2.
DR AlphaFoldDB; Q9ULL1; -.
DR SMR; Q9ULL1; -.
DR BioGRID; 121550; 60.
DR IntAct; Q9ULL1; 17.
DR STRING; 9606.ENSP00000356297; -.
DR iPTMnet; Q9ULL1; -.
DR PhosphoSitePlus; Q9ULL1; -.
DR BioMuta; PLEKHG1; -.
DR DMDM; 62288848; -.
DR EPD; Q9ULL1; -.
DR jPOST; Q9ULL1; -.
DR MassIVE; Q9ULL1; -.
DR MaxQB; Q9ULL1; -.
DR PaxDb; Q9ULL1; -.
DR PeptideAtlas; Q9ULL1; -.
DR PRIDE; Q9ULL1; -.
DR ProteomicsDB; 85068; -.
DR Antibodypedia; 33327; 70 antibodies from 17 providers.
DR DNASU; 57480; -.
DR Ensembl; ENST00000358517.6; ENSP00000351318.2; ENSG00000120278.16.
DR Ensembl; ENST00000644968.1; ENSP00000496254.1; ENSG00000120278.16.
DR GeneID; 57480; -.
DR KEGG; hsa:57480; -.
DR UCSC; uc003qny.1; human.
DR CTD; 57480; -.
DR DisGeNET; 57480; -.
DR GeneCards; PLEKHG1; -.
DR HGNC; HGNC:20884; PLEKHG1.
DR HPA; ENSG00000120278; Tissue enhanced (lymphoid).
DR neXtProt; NX_Q9ULL1; -.
DR OpenTargets; ENSG00000120278; -.
DR PharmGKB; PA134922441; -.
DR VEuPathDB; HostDB:ENSG00000120278; -.
DR eggNOG; KOG3518; Eukaryota.
DR GeneTree; ENSGT00940000157723; -.
DR HOGENOM; CLU_005294_0_0_1; -.
DR InParanoid; Q9ULL1; -.
DR OMA; WHSTYSN; -.
DR OrthoDB; 147068at2759; -.
DR PhylomeDB; Q9ULL1; -.
DR TreeFam; TF328565; -.
DR PathwayCommons; Q9ULL1; -.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR SignaLink; Q9ULL1; -.
DR SIGNOR; Q9ULL1; -.
DR BioGRID-ORCS; 57480; 9 hits in 1065 CRISPR screens.
DR ChiTaRS; PLEKHG1; human.
DR GenomeRNAi; 57480; -.
DR Pharos; Q9ULL1; Tbio.
DR PRO; PR:Q9ULL1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9ULL1; protein.
DR Bgee; ENSG00000120278; Expressed in sural nerve and 140 other tissues.
DR ExpressionAtlas; Q9ULL1; baseline and differential.
DR Genevisible; Q9ULL1; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR CDD; cd13243; PH_PLEKHG1_G2_G3; 1.
DR CDD; cd00160; RhoGEF; 1.
DR Gene3D; 1.20.900.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR043324; PH_PLEKHG1_G2_G3.
DR Pfam; PF00621; RhoGEF; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR PROSITE; PS50010; DH_2; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Guanine-nucleotide releasing factor; Phosphoprotein; Reference proteome.
FT CHAIN 1..1385
FT /note="Pleckstrin homology domain-containing family G
FT member 1"
FT /id="PRO_0000080964"
FT DOMAIN 113..293
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 317..416
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 63..101
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 455..518
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 570..646
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 677..696
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 701..732
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 868..887
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1318..1343
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 8..31
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 64..83
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 461..490
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 491..518
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 570..630
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 709..732
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1318..1332
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1192
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 787
FT /note="Q -> R (in dbSNP:rs17080381)"
FT /id="VAR_051988"
FT VARIANT 1071
FT /note="V -> A (in dbSNP:rs17080410)"
FT /id="VAR_051989"
FT VARIANT 1321
FT /note="L -> S (in dbSNP:rs17054318)"
FT /id="VAR_051990"
FT VARIANT 1377
FT /note="Q -> P (in dbSNP:rs58786678)"
FT /id="VAR_061797"
SQ SEQUENCE 1385 AA; 155439 MW; 1174A1AC7A9EB913 CRC64;
MELSDSDRPV SFGSTSSSAS SRDSHGSFGS RMTLVSNSHM GLFNQDKEVG AIKLELIPAR
PFSSSELQRD NPATGQQNAD EGSERPPRAQ WRVDSNGAPK TIADSATSPK LLYVDRVVQE
ILETERTYVQ DLKSIVEDYL DCIRDQTKLP LGTEERSALF GNIQDIYHFN SELLQDLENC
ENDPVAIAEC FVSKSEEFHI YTQYCTNYPR SVAVLTECMR NKILAKFFRE RQETLKHSLP
LGSYLLKPVQ RILKYHLLLH EIENHLDKDT EGYDVVLDAI DTMQRVAWHI NDMKRKHEHA
VRLQEIQSLL TNWKGPDLTS YGELVLEGTF RIQRAKNERT LFLFDKLLLI TKKRDDTFTY
KAHILCGNLM LVEVIPKEPL SFSVFHYKNP KLQHTVQAKS QQDKRLWVLH LKRLILENHA
AKIPAKAKQA ILEMDAIHHP GFCYSPEGGT KALFGSKEGS APYRLRRKSE PSSRSHKVLK
TSETAQDIQK VSREEGSPQL SSARPSPAQR NSQPSSSTMI SVLRAGGALR NIWTDHQIRQ
ALFPSRRSPQ ENEDDEDDYQ MFVPSFSSSD LNSTRLCEDS TSSRPCSWHM GQMESTETSS
SGHRIVRRAS SAGESNTCPP EIGTSDRTRE LQNSPKTEGQ EEMTPFGSSI ELTIDDIDHV
YDNISYEDLK LMVAKREEAE STPSKSARDS VRPKSTPELA FTKRQAGHSK GSLYAQTDGT
LSGGEASSQS THELQAVEEN IYDTIGLPDP PSLGFKCSSL KRAKRSTFLG LEADFVCCDS
LRPFVSQDSL QLSEDEAPYH QATPDHGYLS LLYDSPSGNL SMPHKPVSDK LSEEVDEIWN
DLENYIKKNE DKARDRLLAA FPVSKDDVPD RLHAESTPEL SRDVGRSVST LSLPESQALL
TPVKSRAGRA SRANCPFEED LISKEGSFMS LNRLSLASEM PLMDNPYDLA NSGLSQTDPE
NPDLGMEATD KTKSRVFMMA RQYSQKIKKA NQLLKVKSLE LEQPPASQHQ KSMHKDLAAI
LEEKKQGGPA IGARIAEYSQ LYDQIVFRES PLKIQKDGWA SPQESSLLRS VSPSQVHHGS
GDWLLHSTYS NGELADFCLP PEQDLRSRYP TFEINTKSTP RQLSAACSVP SLQTSDPLPG
SVQRCSVVVS QPNKENWCQD HLYNSLGRKG ISAKSQPYHR SQSSSSVLIN KSMDSINYPS
DVGKQQLLSL HRSSRCESHQ DLLPDIADSH QQGTEKLSDL TLQDSQKVVV VNRNLPLNAQ
IATQNYFSNF KETDGDEDDY VEIKSEEDES ELELSHNRRR KSDSKFVDAD FSDNVCSGNT
LHSLNSPRTP KKPVNSKLGL SPYLTPYNDS DKLNDYLWRG PSPNQQNIVQ SLREKFQCLS
SSSFA
