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   27-MAR-2024, entry version 154.
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; 9606-ENSP00000416125; -.
DR   PeptideAtlas; Q9NXL2; -.
DR   ProteomicsDB; 10314; -.
DR   ProteomicsDB; 83109; -. [Q9NXL2-2]
DR   Antibodypedia; 50147; 12 antibodies from 7 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   AGR; HGNC:25968; -.
DR   CTD; 54848; -.
DR   DisGeNET; 54848; -.
DR   GeneCards; ARHGEF38; -.
DR   HGNC; HGNC:25968; ARHGEF38.
DR   HPA; ENSG00000236699; Tissue enhanced (breast, pancreas).
DR   MalaCards; ARHGEF38; -.
DR   MIM; 619919; gene.
DR   neXtProt; NX_Q9NXL2; -.
DR   OpenTargets; ENSG00000236699; -.
DR   Orphanet; 199306; Cleft lip/palate.
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; QYTQEMV; -.
DR   OrthoDB; 25601at2759; -.
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; 26 hits in 1144 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 101 other cell types or tissues.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR   CDD; cd07589; BAR_DNMBP; 1.
DR   CDD; cd00160; RhoGEF; 1.
DR   CDD; cd12141; SH3_DNMBP_C2; 1.
DR   Gene3D; 1.20.1270.60; Arfaptin homology (AH) domain/BAR domain; 1.
DR   Gene3D; 1.20.900.10; Dbl homology (DH) domain; 1.
DR   Gene3D; 2.30.30.40; SH3 Domains; 2.
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   PANTHER; PTHR22834; NUCLEAR FUSION PROTEIN FUS2; 1.
DR   PANTHER; PTHR22834:SF17; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 38; 1.
DR   Pfam; PF03114; BAR; 1.
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; BAR/IMD domain-like; 1.
DR   SUPFAM; SSF48065; DBL homology domain (DH-domain); 1.
DR   SUPFAM; SSF50044; SH3-domain; 2.
DR   PROSITE; PS51021; BAR; 1.
DR   PROSITE; PS50010; DH_2; 1.
DR   PROSITE; PS50002; SH3; 2.
DR   Genevisible; Q9NXL2; HS.
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
//