PKH4B_HUMAN
ID PKH4B_HUMAN Reviewed; 1271 AA.
AC Q96PX9;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 4.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Pleckstrin homology domain-containing family G member 4B;
DE Short=PH domain-containing family G member 4B;
GN Name=PLEKHG4B; Synonyms=KIAA1909;
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 PRO-669; GLN-1076 AND
RP GLY-1146.
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
CC -!- INTERACTION:
CC Q96PX9; O15085-1: ARHGEF11; NbExp=3; IntAct=EBI-11741362, EBI-25399484;
CC Q96PX9; Q9NZN5-1: ARHGEF12; NbExp=3; IntAct=EBI-11741362, EBI-9640168;
CC Q96PX9; Q13643: FHL3; NbExp=4; IntAct=EBI-11741362, EBI-741101;
CC Q96PX9; O00629: KPNA4; NbExp=2; IntAct=EBI-11741362, EBI-396343;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB067496; BAB67802.2; -; mRNA.
DR EMBL; AC010443; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021087; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_443141.3; NM_052909.3.
DR AlphaFoldDB; Q96PX9; -.
DR SMR; Q96PX9; -.
DR BioGRID; 127497; 25.
DR IntAct; Q96PX9; 15.
DR STRING; 9606.ENSP00000283426; -.
DR iPTMnet; Q96PX9; -.
DR PhosphoSitePlus; Q96PX9; -.
DR BioMuta; PLEKHG4B; -.
DR DMDM; 296439496; -.
DR EPD; Q96PX9; -.
DR jPOST; Q96PX9; -.
DR MassIVE; Q96PX9; -.
DR MaxQB; Q96PX9; -.
DR PaxDb; Q96PX9; -.
DR PeptideAtlas; Q96PX9; -.
DR PRIDE; Q96PX9; -.
DR ProteomicsDB; 77784; -.
DR Antibodypedia; 49942; 24 antibodies from 11 providers.
DR DNASU; 153478; -.
DR Ensembl; ENST00000283426.11; ENSP00000283426.6; ENSG00000153404.15.
DR GeneID; 153478; -.
DR KEGG; hsa:153478; -.
DR UCSC; uc003jak.3; human.
DR CTD; 153478; -.
DR DisGeNET; 153478; -.
DR GeneCards; PLEKHG4B; -.
DR HGNC; HGNC:29399; PLEKHG4B.
DR HPA; ENSG00000153404; Tissue enhanced (choroid).
DR neXtProt; NX_Q96PX9; -.
DR OpenTargets; ENSG00000153404; -.
DR PharmGKB; PA162399667; -.
DR VEuPathDB; HostDB:ENSG00000153404; -.
DR eggNOG; KOG0689; Eukaryota.
DR eggNOG; KOG4240; Eukaryota.
DR GeneTree; ENSGT00940000162507; -.
DR HOGENOM; CLU_001356_2_2_1; -.
DR InParanoid; Q96PX9; -.
DR OMA; DLWLQCP; -.
DR OrthoDB; 578732at2759; -.
DR PhylomeDB; Q96PX9; -.
DR TreeFam; TF334329; -.
DR PathwayCommons; Q96PX9; -.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR SignaLink; Q96PX9; -.
DR SIGNOR; Q96PX9; -.
DR BioGRID-ORCS; 153478; 6 hits in 1057 CRISPR screens.
DR ChiTaRS; PLEKHG4B; human.
DR GenomeRNAi; 153478; -.
DR Pharos; Q96PX9; Tdark.
DR PRO; PR:Q96PX9; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q96PX9; protein.
DR Bgee; ENSG00000153404; Expressed in ventricular zone and 108 other tissues.
DR ExpressionAtlas; Q96PX9; baseline and differential.
DR Genevisible; Q96PX9; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
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; 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 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 Reference proteome.
FT CHAIN 1..1271
FT /note="Pleckstrin homology domain-containing family G
FT member 4B"
FT /id="PRO_0000317286"
FT DOMAIN 805..984
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 996..1104
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 21..119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 145..181
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 603..652
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 693..755
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 768..803
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1163..1202
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 27..53
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 697..714
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 730..755
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 774..788
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1165..1179
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1188..1202
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 37
FT /note="V -> A (in dbSNP:rs12516846)"
FT /id="VAR_059547"
FT VARIANT 72
FT /note="A -> T (in dbSNP:rs12523402)"
FT /id="VAR_056672"
FT VARIANT 149
FT /note="G -> S (in dbSNP:rs11949577)"
FT /id="VAR_056673"
FT VARIANT 220
FT /note="R -> H (in dbSNP:rs13436090)"
FT /id="VAR_056674"
FT VARIANT 660
FT /note="A -> V (in dbSNP:rs3810869)"
FT /id="VAR_056675"
FT VARIANT 669
FT /note="T -> P (in dbSNP:rs29674)"
FT /evidence="ECO:0000269|PubMed:11572484"
FT /id="VAR_060453"
FT VARIANT 1076
FT /note="R -> Q (in dbSNP:rs4956987)"
FT /evidence="ECO:0000269|PubMed:11572484"
FT /id="VAR_060454"
FT VARIANT 1146
FT /note="R -> G (in dbSNP:rs12519352)"
FT /evidence="ECO:0000269|PubMed:11572484"
FT /id="VAR_060455"
FT CONFLICT 671
FT /note="R -> G (in Ref. 1; BAB67802)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1271 AA; 139667 MW; 242509412ACEF3A5 CRC64;
MEALRNPMPL GSSEEALGDL ACSSLTGASR DLGTGAVASG TQEETSGPRG DPQQTPSLEK
ERHTPSRTGP GAAGRTLPRR SRSWERAPRS SRGAQAAACH TSHHSAGSRP GGHLGGQAVG
TPNCVPVEGP GCTKEEDVLA SSACVSTDGG SLHCHNPSGP SDVPARQPHP EQEGWPPGTG
DFPSQVPKQV LDVSQELLQS GVVTLPGTRD RHGRAVVQVR TRSLLWTREH SSCAELTRLL
LYFHSIPRKE VRDLGLVVLV DARRSPAAPA VSQALSGLQN NTSPIIHSIL LLVDKESAFR
PDKDAIIQCE VVSSLKAVHK FVDSCQLTAD LDGSFPYSHG DWICFRQRLE HFAANCEEAI
IFLQNSFCSL NTHRTPRTAQ EVAELIDQHE TMMKLVLEDP LLVSLRLEGG TVLARLRREE
LGTEDSRDTL EAATSLYDRV DEEVHRLVLT SNNRLQQLEH LRELASLLEG NDQQSCQKGL
QLAKENPQRT EEMVQDFRRG LSAVVSQAEC REGELARWTR SSELCETVSS WMGPLDPEAC
PSSPVAECLR SCHQEATSVA AEAFPGAGVA VLKPHALGKP WASQQDLWLQ YPQTRLRLEE
ALSEAAPDPS LPPLAQSPPK HERAQEAMRR HQKPPSFPST DSGGGAWEPA QPLSGLPGRA
LLCGQDGETL RPGLCALWDP LSLLRGLPGA GATTAHLEDS SACSSEPTQT LASRPRKHPQ
KKMIKKTQSF EIPQPDSGPR DSCQPDHTSV FSKGLEVTST VATEKKLPLW QHARSPPVTQ
SRSLSSPSGL HPAEEDGRQQ VGSSRLRHIM AEMIATEREY IRCLGYVIDN YFPEMERMDL
PQGLRGKHHV IFGNLEKLHD FHQQHFLREL ERCQHCPLAV GRSFLRHEEQ FGMYVIYSKN
KPQSDALLSS HGNAFFKDKQ RELGDKMDLA SYLLRPVQRV AKYALLLQDL LKEASCGLAQ
GQELGELRAA EVVVCFQLRH GNDLLAMDAI RGCDVNLKEQ GQLRCRDEFI VCCGRKKYLR
HVFLFEDLIL FSKTQKVEGS HDVYLYKQSF KTAEIGMTEN VGDSGLRFEI WFRRRRKSQD
TYILQASSAE VKSAWTDVIG RILWRQALKS RELRIQEMAS MGIGNQPFMD VKPRDRTPDC
AVISDRAPKC AVMSDRVPDS IVKGTESQMR GSTAVSSSDH AAPFKRPHST ISDSSTSSSS
SQSSSILGSL GLLVSSSPAH PGLWSPAHSP WSSDIRACVE EDEPEPELET GTQAAVCEGA
PAVLLSRTRQ A
