ARH38_HUMAN
ID ARH38_HUMAN Reviewed; 777 AA.
AC Q9NXL2; C9JIB4;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 19-MAR-2014, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Rho guanine nucleotide exchange factor 38;
GN Name=ARHGEF38;
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 1).
RC TISSUE=Colon mucosa;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 VARIANT [LARGE SCALE ANALYSIS] ASN-67.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May act as a guanine-nucleotide releasing factor.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NXL2-1; P28329-3: CHAT; NbExp=3; IntAct=EBI-18172597, EBI-25837549;
CC Q9NXL2-1; G5E9A7: DMWD; NbExp=3; IntAct=EBI-18172597, EBI-10976677;
CC Q9NXL2-1; P22607: FGFR3; NbExp=3; IntAct=EBI-18172597, EBI-348399;
CC Q9NXL2-1; P06396: GSN; NbExp=3; IntAct=EBI-18172597, EBI-351506;
CC Q9NXL2-1; P01112: HRAS; NbExp=3; IntAct=EBI-18172597, EBI-350145;
CC Q9NXL2-1; O75971-2: SNAPC5; NbExp=3; IntAct=EBI-18172597, EBI-12004298;
CC Q9NXL2-1; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-18172597, EBI-5235340;
CC Q9NXL2-1; Q9Y649; NbExp=3; IntAct=EBI-18172597, EBI-25900580;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2;
CC IsoId=Q9NXL2-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9NXL2-1; Sequence=VSP_053830;
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DR EMBL; AK000191; BAA90998.1; -; mRNA.
DR EMBL; AC004066; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105391; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX06187.1; -; Genomic_DNA.
DR EMBL; BC105695; AAI05696.1; -; mRNA.
DR CCDS; CCDS3670.1; -. [Q9NXL2-1]
DR CCDS; CCDS56338.1; -. [Q9NXL2-2]
DR RefSeq; NP_001229658.1; NM_001242729.1. [Q9NXL2-2]
DR RefSeq; NP_060170.1; NM_017700.1. [Q9NXL2-1]
DR AlphaFoldDB; Q9NXL2; -.
DR SMR; Q9NXL2; -.
DR BioGRID; 120198; 5.
DR IntAct; Q9NXL2; 11.
DR STRING; 9606.ENSP00000416125; -.
DR iPTMnet; Q9NXL2; -.
DR PhosphoSitePlus; Q9NXL2; -.
DR BioMuta; ARHGEF38; -.
DR DMDM; 74725339; -.
DR jPOST; Q9NXL2; -.
DR MassIVE; Q9NXL2; -.
DR PaxDb; Q9NXL2; -.
DR PeptideAtlas; Q9NXL2; -.
DR PRIDE; Q9NXL2; -.
DR ProteomicsDB; 10314; -.
DR ProteomicsDB; 83109; -. [Q9NXL2-2]
DR Antibodypedia; 50147; 11 antibodies from 6 providers.
DR DNASU; 54848; -.
DR Ensembl; ENST00000265154.6; ENSP00000265154.2; ENSG00000236699.9. [Q9NXL2-1]
DR Ensembl; ENST00000420470.3; ENSP00000416125.2; ENSG00000236699.9. [Q9NXL2-2]
DR GeneID; 54848; -.
DR KEGG; hsa:54848; -.
DR MANE-Select; ENST00000420470.3; ENSP00000416125.2; NM_001242729.2; NP_001229658.1.
DR UCSC; uc003hxu.3; human. [Q9NXL2-2]
DR CTD; 54848; -.
DR DisGeNET; 54848; -.
DR GeneCards; ARHGEF38; -.
DR HGNC; HGNC:25968; ARHGEF38.
DR HPA; ENSG00000236699; Tissue enhanced (breast, pancreas).
DR neXtProt; NX_Q9NXL2; -.
DR OpenTargets; ENSG00000236699; -.
DR PharmGKB; PA165663186; -.
DR VEuPathDB; HostDB:ENSG00000236699; -.
DR eggNOG; KOG3519; Eukaryota.
DR GeneTree; ENSGT00950000183088; -.
DR HOGENOM; CLU_107855_1_0_1; -.
DR InParanoid; Q9NXL2; -.
DR OMA; KQHFTAC; -.
DR OrthoDB; 207472at2759; -.
DR PhylomeDB; Q9NXL2; -.
DR TreeFam; TF317245; -.
DR PathwayCommons; Q9NXL2; -.
DR Reactome; R-HSA-193648; NRAGE signals death through JNK.
DR Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR SignaLink; Q9NXL2; -.
DR BioGRID-ORCS; 54848; 25 hits in 1065 CRISPR screens.
DR ChiTaRS; ARHGEF38; human.
DR GenomeRNAi; 54848; -.
DR Pharos; Q9NXL2; Tdark.
DR PRO; PR:Q9NXL2; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NXL2; protein.
DR Bgee; ENSG00000236699; Expressed in body of pancreas and 100 other tissues.
DR Genevisible; Q9NXL2; HS.
DR GO; GO:0005829; C:cytosol; IEA:UniProt.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR CDD; cd00160; RhoGEF; 1.
DR Gene3D; 1.20.1270.60; -; 1.
DR Gene3D; 1.20.900.10; -; 1.
DR InterPro; IPR027267; AH/BAR_dom_sf.
DR InterPro; IPR004148; BAR_dom.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR Pfam; PF00621; RhoGEF; 1.
DR Pfam; PF07653; SH3_2; 1.
DR Pfam; PF14604; SH3_9; 1.
DR SMART; SM00721; BAR; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SMART; SM00326; SH3; 2.
DR SUPFAM; SSF103657; SSF103657; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR SUPFAM; SSF50044; SSF50044; 2.
DR PROSITE; PS51021; BAR; 1.
DR PROSITE; PS50010; DH_2; 1.
DR PROSITE; PS50002; SH3; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Guanine-nucleotide releasing factor; Phosphoprotein;
KW Reference proteome; Repeat; SH3 domain.
FT CHAIN 1..777
FT /note="Rho guanine nucleotide exchange factor 38"
FT /id="PRO_0000318987"
FT DOMAIN 94..285
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 327..536
FT /note="BAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00361"
FT DOMAIN 582..645
FT /note="SH3 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT DOMAIN 713..776
FT /note="SH3 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT REGION 35..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 673..694
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 34
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80VK6"
FT VAR_SEQ 220..777
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053830"
FT VARIANT 67
FT /note="K -> N (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_038928"
FT VARIANT 88
FT /note="M -> V (in dbSNP:rs2276970)"
FT /id="VAR_038929"
SQ SEQUENCE 777 AA; 89078 MW; 35F411FFD7704DFF CRC64;
MEPKEATGKE NMVTKKKNLA FLRSRLYMLE RRKTDTVVES SVSGDHSGTL RRSQSDRTEY
NQKLQEKMTP QGECSVAETL TPEEEHHMKR MMAKREKIIK ELIQTEKDYL NDLELCVREV
VQPLRNKKTD RLDVDSLFSN IESVHQISAK LLSLLEEATT DVEPAMQVIG EVFLQIKGPL
EDIYKIYCYH HDEAHSILES YEKEEELKEH LSHCIQSLKK IYMQEGKPNL LDMGSLMIKP
IQRVMKYPLL LCELRNSTPP SHPDYRALDD AFAAVKDINV NINELKRRKD LVLKYKKNDE
DESLKDKLSK LNIHSISKKS KRVTNHLKIL TRGESQVKDN TFNREEKLFR ALEKTVRLCV
KNISLCLQHI QDAMPLALQS VMDLQEISYN KDDEMDYSET LSNALNSCHD FASHLQRLIL
TPLSALLSLF PGPHKLIQKR YDKLLDCNSY LQRSTGEESD LAKKEYEALN AQLVEELQAF
NQAARKILLN CLCSFITLLR DLMLVAQQAY STLVPMPLLV SSISEIQNQV LEEIQNLNCV
KENSATFIER KLSFEKKKPV QILPEMPHQT DIHRSKLLST YSAEELYQAK RKCNATQEYD
INLLEGDLVA VIEQKDPLGS TSRWLVDTGN VKGYVYSSFL KPYNPAKMQK VDAENRFCDD
DFENISLFVS SRPASDSVTG TSESSIGDSS SSLSGTCGKF ETNGTDVDSF QEVDEQIFYA
VHAFQARSDH ELSLQEYQRV HILRFCDLSG NKEWWLAEAQ GQKGYVPANY LGKMTYA
