ARHGJ_HUMAN
ID ARHGJ_HUMAN Reviewed; 802 AA.
AC Q8IW93; A6NJ04; Q5TEV2; Q6PJQ4; Q8N244;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Rho guanine nucleotide exchange factor 19;
DE AltName: Full=Ephexin-2;
GN Name=ARHGEF19;
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 2), AND VARIANTS ARG-163
RP AND GLN-238.
RC TISSUE=Tongue;
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 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] OF 97-802 (ISOFORM 1).
RC TISSUE=Colon, and Pancreas;
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).
CC -!- FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA
CC GTPase. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8IW93; Q9P286: PAK5; NbExp=3; IntAct=EBI-7799822, EBI-741896;
CC Q8IW93; P61586: RHOA; NbExp=2; IntAct=EBI-7799822, EBI-446668;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IW93-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IW93-2; Sequence=VSP_024827;
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DR EMBL; AK091281; BAC03627.1; -; mRNA.
DR EMBL; AL109627; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC012982; AAH12982.1; -; mRNA.
DR EMBL; BC040640; AAH40640.1; -; mRNA.
DR CCDS; CCDS170.1; -. [Q8IW93-1]
DR RefSeq; NP_694945.2; NM_153213.4. [Q8IW93-1]
DR RefSeq; XP_011539008.1; XM_011540706.2. [Q8IW93-1]
DR AlphaFoldDB; Q8IW93; -.
DR SMR; Q8IW93; -.
DR BioGRID; 126104; 56.
DR IntAct; Q8IW93; 50.
DR MINT; Q8IW93; -.
DR STRING; 9606.ENSP00000270747; -.
DR iPTMnet; Q8IW93; -.
DR PhosphoSitePlus; Q8IW93; -.
DR BioMuta; ARHGEF19; -.
DR DMDM; 74750701; -.
DR EPD; Q8IW93; -.
DR jPOST; Q8IW93; -.
DR MassIVE; Q8IW93; -.
DR MaxQB; Q8IW93; -.
DR PaxDb; Q8IW93; -.
DR PeptideAtlas; Q8IW93; -.
DR PRIDE; Q8IW93; -.
DR ProteomicsDB; 70823; -. [Q8IW93-1]
DR ProteomicsDB; 70824; -. [Q8IW93-2]
DR Antibodypedia; 46665; 84 antibodies from 27 providers.
DR DNASU; 128272; -.
DR Ensembl; ENST00000270747.8; ENSP00000270747.3; ENSG00000142632.17. [Q8IW93-1]
DR GeneID; 128272; -.
DR KEGG; hsa:128272; -.
DR MANE-Select; ENST00000270747.8; ENSP00000270747.3; NM_153213.5; NP_694945.2.
DR UCSC; uc001ayc.1; human. [Q8IW93-1]
DR CTD; 128272; -.
DR DisGeNET; 128272; -.
DR GeneCards; ARHGEF19; -.
DR HGNC; HGNC:26604; ARHGEF19.
DR HPA; ENSG00000142632; Tissue enhanced (skin).
DR MIM; 612496; gene.
DR neXtProt; NX_Q8IW93; -.
DR OpenTargets; ENSG00000142632; -.
DR PharmGKB; PA134887028; -.
DR VEuPathDB; HostDB:ENSG00000142632; -.
DR eggNOG; KOG3523; Eukaryota.
DR GeneTree; ENSGT01030000234571; -.
DR HOGENOM; CLU_012820_1_0_1; -.
DR InParanoid; Q8IW93; -.
DR OMA; PSMWIPG; -.
DR PhylomeDB; Q8IW93; -.
DR TreeFam; TF316357; -.
DR PathwayCommons; Q8IW93; -.
DR Reactome; R-HSA-193648; NRAGE signals death through JNK.
DR Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR Reactome; R-HSA-8980692; RHOA GTPase cycle.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR SignaLink; Q8IW93; -.
DR SIGNOR; Q8IW93; -.
DR BioGRID-ORCS; 128272; 18 hits in 1081 CRISPR screens.
DR GenomeRNAi; 128272; -.
DR Pharos; Q8IW93; Tbio.
DR PRO; PR:Q8IW93; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8IW93; protein.
DR Bgee; ENSG00000142632; Expressed in skin of abdomen and 136 other tissues.
DR ExpressionAtlas; Q8IW93; baseline and differential.
DR Genevisible; Q8IW93; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:0032956; P:regulation of actin cytoskeleton organization; IGI:MGI.
DR GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR GO; GO:0060071; P:Wnt signaling pathway, planar cell polarity pathway; NAS:ParkinsonsUK-UCL.
DR GO; GO:0042060; P:wound healing; IEA:Ensembl.
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; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR Pfam; PF00621; RhoGEF; 1.
DR Pfam; PF00018; SH3_1; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR SUPFAM; SSF50044; SSF50044; 1.
DR PROSITE; PS50010; DH_2; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS50002; SH3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; GTPase activation;
KW Guanine-nucleotide releasing factor; Reference proteome; SH3 domain.
FT CHAIN 1..802
FT /note="Rho guanine nucleotide exchange factor 19"
FT /id="PRO_0000285131"
FT DOMAIN 376..560
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 592..704
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 715..776
FT /note="SH3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 84..138
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 171..190
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 222..283
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 306..342
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 252..268
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 484..783
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024827"
FT VARIANT 163
FT /note="G -> R (in dbSNP:rs221058)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_031950"
FT VARIANT 238
FT /note="E -> Q (in dbSNP:rs221057)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_031951"
SQ SEQUENCE 802 AA; 89197 MW; 7A334F386AC7A562 CRC64;
MDCGPPATLQ PHLTGPPGTA HHPVAVCQQE SLSFAELPAL KPPSPVCLDL FPVAPEELRA
PGSRWSLGTP APLQGLLWPL SPGGSDTEIT SGGMRPSRAG SWPHCPGAQP PALEGPWSPR
HTQPQRRASH GSEKKSAWRK MRVYQREEVP GCPEAHAVFL EPGQVVQEQA LSTEEPRVEL
SGSTRVSLEG PERRRFSASE LMTRLHSSLR LGRNSAARAL ISGSGTGAAR EGKASGMEAR
SVEMSGDRVS RPAPGDSREG DWSEPRLDTQ EEPPLGSRST NERRQSRFLL NSVLYQEYSD
VASARELRRQ QREEEGPGDE AEGAEEGPGP PRANLSPSSS FRAQRSARGS TFSLWQDIPD
VRGSGVLATL SLRDCKLQEA KFELITSEAS YIHSLSVAVG HFLGSAELSE CLGAQDKQWL
FSKLPEVKST SERFLQDLEQ RLEADVLRFS VCDVVLDHCP AFRRVYLPYV TNQAYQERTY
QRLLLENPRF PGILARLEES PVCQRLPLTS FLILPFQRIT RLKMLVENIL KRTAQGSEDE
DMATKAFNAL KELVQECNAS VQSMKRTEEL IHLSKKIHFE GKIFPLISQA RWLVRHGELV
ELAPLPAAPP AKLKLSSKAV YLHLFNDCLL LSRRKELGKF AVFVHAKMAE LQVRDLSLKL
QGIPGHVFLL QLLHGQHMKH QFLLRARTES EKQRWISALC PSSPQEDKEV ISEGEDCPQV
QCVRTYKALH PDELTLEKTD ILSVRTWTSD GWLEGVRLAD GEKGWVPQAY VEEISSLSAR
LRNLRENKRV TSATSKLGEA PV
