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RecName: Full=Rho guanine nucleotide exchange factor 38

UniProtKB/Swiss-Prot: Q9NXL2.2

Identical Proteins FASTA Graphics 

LOCUS       ARH38_HUMAN              777 aa            linear   PRI 27-NOV-2024
DEFINITION  RecName: Full=Rho guanine nucleotide exchange factor 38.
ACCESSION   Q9NXL2
VERSION     Q9NXL2.2
DBSOURCE    UniProtKB: locus ARH38_HUMAN, accession Q9NXL2;
            class: standard.
            extra accessions:C9JIB4
            created: Feb 26, 2008.
            sequence updated: Mar 19, 2014.
            annotation updated: Nov 27, 2024.
            xrefs: AK000191.1, BAA90998.1, AC004066.1, AC105391.1, CH471057.1,
            EAX06187.1, BC105695.1, AAI05696.1, NP_001229658.1, NP_060170.1
            xrefs (non-sequence databases): CCDS:CCDS3670.1, CCDS:CCDS56338.1,
            AlphaFoldDB:Q9NXL2, SMR:Q9NXL2, BioGRID:120198, IntAct:Q9NXL2,
            STRING:9606.ENSP00000416125, iPTMnet:Q9NXL2,
            PhosphoSitePlus:Q9NXL2, BioMuta:ARHGEF38, DMDM:74725339,
            jPOST:Q9NXL2, MassIVE:Q9NXL2, PaxDb:9606-ENSP00000416125,
            PeptideAtlas:Q9NXL2, ProteomicsDB:10314, ProteomicsDB:83109,
            Antibodypedia:50147, DNASU:54848, Ensembl:ENST00000265154.6,
            Ensembl:ENSP00000265154.2, Ensembl:ENSG00000236699.9,
            Ensembl:ENST00000420470.3, Ensembl:ENSP00000416125.2, GeneID:54848,
            KEGG:hsa:54848, MANE-Select:ENST00000420470.3, UCSC:uc003hxu.3,
            AGR:HGNC:25968, CTD:54848, DisGeNET:54848, GeneCards:ARHGEF38,
            HGNC:25968, HPA:ENSG00000236699, MalaCards:ARHGEF38, MIM 619919,
            neXtProt:NX_Q9NXL2, OpenTargets:ENSG00000236699, Orphanet:199306,
            PharmGKB:PA165663186, VEuPathDB:HostDB:ENSG00000236699,
            eggNOG:KOG3519, GeneTree:ENSGT00950000183088,
            HOGENOM:CLU_107855_1_0_1, InParanoid:Q9NXL2, OMA:QYTQEMV,
            OrthoDB:25601at2759, PhylomeDB:Q9NXL2, TreeFam:TF317245,
            PathwayCommons:Q9NXL2, Reactome:R-HSA-193648,
            Reactome:R-HSA-416482, SignaLink:Q9NXL2, BioGRID-ORCS:54848,
            ChiTaRS:ARHGEF38, GenomeRNAi:54848, Pharos:Q9NXL2, PRO:PR:Q9NXL2,
            Proteomes:UP000005640, RNAct:Q9NXL2, Bgee:ENSG00000236699,
            GO:0005737, GO:0005085, CDD:cd07589, CDD:cd00160, CDD:cd12141,
            FunFam:2.30.30.40:FF:000066, FunFam:1.20.1270.60:FF:000061,
            FunFam:2.30.30.40:FF:000193, FunFam:1.20.900.10:FF:000032,
            Gene3D:1.20.1270.60, Gene3D:1.20.900.10, Gene3D:2.30.30.40,
            InterPro:IPR027267, InterPro:IPR004148, InterPro:IPR035899,
            InterPro:IPR000219, InterPro:IPR051492, InterPro:IPR036028,
            InterPro:IPR001452, PANTHER:PTHR22834, PANTHER:PTHR22834:SF17,
            Pfam:PF03114, Pfam:PF00621, Pfam:PF07653, Pfam:PF14604,
            SMART:SM00721, SMART:SM00325, SMART:SM00326, SUPFAM:SSF103657,
            SUPFAM:SSF48065, SUPFAM:SSF50044, PROSITE:PS51021, PROSITE:PS50010,
            PROSITE:PS50002
KEYWORDS    Alternative splicing; Guanine-nucleotide releasing factor;
            Phosphoprotein; Proteomics identification; Reference proteome;
            Repeat; SH3 domain.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 777)
  AUTHORS   Ota,T., Suzuki,Y., Nishikawa,T., Otsuki,T., Sugiyama,T., Irie,R.,
            Wakamatsu,A., Hayashi,K., Sato,H., Nagai,K., Kimura,K., Makita,H.,
            Sekine,M., Obayashi,M., Nishi,T., Shibahara,T., Tanaka,T.,
            Ishii,S., Yamamoto,J., Saito,K., Kawai,Y., Isono,Y., Nakamura,Y.,
            Nagahari,K., Murakami,K., Yasuda,T., Iwayanagi,T., Wagatsuma,M.,
            Shiratori,A., Sudo,H., Hosoiri,T., Kaku,Y., Kodaira,H., Kondo,H.,
            Sugawara,M., Takahashi,M., Kanda,K., Yokoi,T., Furuya,T.,
            Kikkawa,E., Omura,Y., Abe,K., Kamihara,K., Katsuta,N., Sato,K.,
            Tanikawa,M., Yamazaki,M., Ninomiya,K., Ishibashi,T., Yamashita,H.,
            Murakawa,K., Fujimori,K., Tanai,H., Kimata,M., Watanabe,M.,
            Hiraoka,S., Chiba,Y., Ishida,S., Ono,Y., Takiguchi,S., Watanabe,S.,
            Yosida,M., Hotuta,T., Kusano,J., Kanehori,K., Takahashi-Fujii,A.,
            Hara,H., Tanase,T.O., Nomura,Y., Togiya,S., Komai,F., Hara,R.,
            Takeuchi,K., Arita,M., Imose,N., Musashino,K., Yuuki,H., Oshima,A.,
            Sasaki,N., Aotsuka,S., Yoshikawa,Y., Matsunawa,H., Ichihara,T.,
            Shiohata,N., Sano,S., Moriya,S., Momiyama,H., Satoh,N., Takami,S.,
            Terashima,Y., Suzuki,O., Nakagawa,S., Senoh,A., Mizoguchi,H.,
            Goto,Y., Shimizu,F., Wakebe,H., Hishigaki,H., Watanabe,T.,
            Sugiyama,A., Takemoto,M., Kawakami,B., Yamazaki,M., Watanabe,K.,
            Kumagai,A., Itakura,S., Fukuzumi,Y., Fujimori,Y., Komiyama,M.,
            Tashiro,H., Tanigami,A., Fujiwara,T., Ono,T., Yamada,K., Fujii,Y.,
            Ozaki,K., Hirao,M., Ohmori,Y., Kawabata,A., Hikiji,T., Kobatake,N.,
            Inagaki,H., Ikema,Y., Okamoto,S., Okitani,R., Kawakami,T.,
            Noguchi,S., Itoh,T., Shigeta,K., Senba,T., Matsumura,K.,
            Nakajima,Y., Mizuno,T., Morinaga,M., Sasaki,M., Togashi,T.,
            Oyama,M., Hata,H., Watanabe,M., Komatsu,T., Mizushima-Sugano,J.,
            Satoh,T., Shirai,Y., Takahashi,Y., Nakagawa,K., Okumura,K.,
            Nagase,T., Nomura,N., Kikuchi,H., Masuho,Y., Yamashita,R.,
            Nakai,K., Yada,T., Nakamura,Y., Ohara,O., Isogai,T. and Sugano,S.
  TITLE     Complete sequencing and characterization of 21,243 full-length
            human cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).;
            TISSUE=Colon mucosa
REFERENCE   2  (residues 1 to 777)
  AUTHORS   Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H.,
            Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M.,
            Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E.,
            Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J.,
            Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C.,
            Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S.,
            Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M.,
            Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T.,
            Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K.,
            Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A.,
            Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J.,
            Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N.,
            Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J.,
            Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M.,
            Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R.,
            Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W.,
            Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J.,
            Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E.,
            Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A.,
            She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J.,
            Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R.,
            Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A.,
            Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P.,
            Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K.
  TITLE     Generation and annotation of the DNA sequences of human chromosomes
            2 and 4
  JOURNAL   Nature 434 (7034), 724-731 (2005)
   PUBMED   15815621
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   3  (residues 1 to 777)
  AUTHORS   Mural,R.J., Istrail,S., Sutton,G.G., Florea,L., Halpern,A.L.,
            Mobarry,C.M., Lippert,R., Walenz,B., Shatkay,H., Dew,I.,
            Miller,J.R., Flanigan,M.J., Edwards,N.J., Bolanos,R., Fasulo,D.,
            Halldorsson,B.V., Hannenhalli,S., Turner,R., Yooseph,S., Lu,F.,
            Nusskern,D.R., Shue,B.C., Zheng,X.H., Zhong,F., Delcher,A.L.,
            Huson,D.H., Kravitz,S.A., Mouchard,L., Reinert,K., Remington,K.A.,
            Clark,A.G., Waterman,M.S., Eichler,E.E., Adams,M.D.,
            Hunkapiller,M.W., Myers,E.W. and Venter,J.C.
  TITLE     Direct Submission
  JOURNAL   Submitted (??-JUL-2005) to the EMBL/GenBank/DDBJ databases
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   4  (residues 1 to 777)
  AUTHORS   Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
            Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
            Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
            Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
            Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
            Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
            Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
            Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
            Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
            Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
            Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
            Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
            Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
            Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
            Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
            Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
            Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
            Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
            Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
            Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
            Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
            Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
            Makowski,K.A., Bosak,S. and Malek,J.
  CONSRTM   MGC Project Team
  TITLE     The status, quality, and expansion of the NIH full-length cDNA
            project: the Mammalian Gene Collection (MGC)
  JOURNAL   Genome Res 14 (10B), 2121-2127 (2004)
   PUBMED   15489334
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
            Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
            Morin, Ryan]]
REFERENCE   5  (residues 1 to 777)
  AUTHORS   Sjoblom,T., Jones,S., Wood,L.D., Parsons,D.W., Lin,J., Barber,T.D.,
            Mandelker,D., Leary,R.J., Ptak,J., Silliman,N., Szabo,S.,
            Buckhaults,P., Farrell,C., Meeh,P., Markowitz,S.D., Willis,J.,
            Dawson,D., Willson,J.K., Gazdar,A.F., Hartigan,J., Wu,L., Liu,C.,
            Parmigiani,G., Park,B.H., Bachman,K.E., Papadopoulos,N.,
            Vogelstein,B., Kinzler,K.W. and Velculescu,V.E.
  TITLE     The consensus coding sequences of human breast and colorectal
            cancers
  JOURNAL   Science 314 (5797), 268-274 (2006)
   PUBMED   16959974
  REMARK    VARIANT [LARGE SCALE ANALYSIS] ASN-67.
COMMENT     On Mar 21, 2014 this sequence version replaced Q9NXL2.1.
            [FUNCTION] May act as a guanine-nucleotide releasing factor.
            {ECO:0000250}.
            [INTERACTION] Q9NXL2-1; P28329-3: CHAT; NbExp=3;
            IntAct=EBI-18172597, EBI-25837549; Q9NXL2-1; G5E9A7: DMWD; NbExp=3;
            IntAct=EBI-18172597, EBI-10976677; Q9NXL2-1; P22607: FGFR3;
            NbExp=3; IntAct=EBI-18172597, EBI-348399; Q9NXL2-1; P06396: GSN;
            NbExp=3; IntAct=EBI-18172597, EBI-351506; Q9NXL2-1; P01112: HRAS;
            NbExp=3; IntAct=EBI-18172597, EBI-350145; Q9NXL2-1; O75971-2:
            SNAPC5; NbExp=3; IntAct=EBI-18172597, EBI-12004298; Q9NXL2-1;
            Q7Z699: SPRED1; NbExp=3; IntAct=EBI-18172597, EBI-5235340;
            Q9NXL2-1; Q9Y649; NbExp=3; IntAct=EBI-18172597, EBI-25900580.
            [ALTERNATIVE PRODUCTS] Event=Alternative splicing; Named
            isoforms=2; Name=2; IsoId=Q9NXL2-2; Sequence=Displayed; Name=1;
            IsoId=Q9NXL2-1; Sequence=VSP_053830.
FEATURES             Location/Qualifiers
     source          1..777
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     gene            1..777
                     /gene="ARHGEF38"
     Protein         1..777
                     /product="Rho guanine nucleotide exchange factor 38"
                     /UniProtKB_evidence="Evidence at protein level"
     Region          1..777
                     /region_name="Mature chain"
                     /note="Rho guanine nucleotide exchange factor 38.
                     /id=PRO_0000318987."
     Site            34
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q80VK6."
     Region          35..72
                     /region_name="Region of interest in the sequence"
                     /note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          67
                     /region_name="Variant"
                     /note="K -> N (in a breast cancer sample; somatic
                     mutation). /evidence=ECO:0000269|PubMed:16959974.
                     /id=VAR_038928."
     Region          88
                     /region_name="Variant"
                     /note="M -> V (in dbSNP:rs2276970). /id=VAR_038929."
     Region          94..285
                     /region_name="Domain"
                     /note="DH.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00062."
     Region          98..283
                     /region_name="RhoGEF"
                     /note="RhoGEF domain; pfam00621"
                     /db_xref="CDD:459876"
     Region          220..777
                     /region_name="Splicing variant"
                     /note="Missing (in isoform 1).
                     /evidence=ECO:0000303|PubMed:14702039. /id=VSP_053830."
     Region          327..536
                     /region_name="Domain"
                     /note="BAR.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00361."
     Region          336..522
                     /region_name="BAR_DNMBP"
                     /note="The Bin/Amphiphysin/Rvs (BAR) domain of Dynamin
                     Binding Protein; cd07589"
                     /db_xref="CDD:153273"
     Site            order(348,351..352,356,358..359,362..363,365..366,
                     377..378,380..381,384..385,387..388,391,397,400..401,478,
                     481..482,484,489,492..493,495..496,499..500,503..504,
                     506..507,515..516,518..519)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:153273"
     Region          582..645
                     /region_name="Domain"
                     /note="SH3 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00192."
     Region          586..642
                     /region_name="SH3"
                     /note="Src Homology 3 domain superfamily; cl17036"
                     /db_xref="CDD:473055"
     Site            order(591,593,596,600,622..623,636,638..639)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212690"
     Region          673..694
                     /region_name="Region of interest in the sequence"
                     /note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          713..776
                     /region_name="Domain"
                     /note="SH3 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00192."
     Region          717..773
                     /region_name="SH3_DNMBP_C2"
                     /note="Second C-terminal Src homology 3 domain of Dynamin
                     Binding Protein, also called Tuba, and similar domains;
                     cd12141"
                     /db_xref="CDD:213017"
     Site            order(722,724,727,731,753..754,767,769..770)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:213017"
ORIGIN      
        1 mepkeatgke nmvtkkknla flrsrlymle rrktdtvves svsgdhsgtl rrsqsdrtey
       61 nqklqekmtp qgecsvaetl tpeeehhmkr mmakrekiik eliqtekdyl ndlelcvrev
      121 vqplrnkktd rldvdslfsn iesvhqisak llslleeatt dvepamqvig evflqikgpl
      181 ediykiycyh hdeahsiles yekeeelkeh lshciqslkk iymqegkpnl ldmgslmikp
      241 iqrvmkypll lcelrnstpp shpdyraldd afaavkdinv ninelkrrkd lvlkykknde
      301 deslkdklsk lnihsiskks krvtnhlkil trgesqvkdn tfnreeklfr alektvrlcv
      361 knislclqhi qdamplalqs vmdlqeisyn kddemdyset lsnalnschd fashlqrlil
      421 tplsallslf pgphkliqkr ydklldcnsy lqrstgeesd lakkeyealn aqlveelqaf
      481 nqaarkilln clcsfitllr dlmlvaqqay stlvpmpllv ssiseiqnqv leeiqnlncv
      541 kensatfier klsfekkkpv qilpemphqt dihrskllst ysaeelyqak rkcnatqeyd
      601 inllegdlva vieqkdplgs tsrwlvdtgn vkgyvyssfl kpynpakmqk vdaenrfcdd
      661 dfenislfvs srpasdsvtg tsessigdss sslsgtcgkf etngtdvdsf qevdeqifya
      721 vhafqarsdh elslqeyqrv hilrfcdlsg nkewwlaeaq gqkgyvpany lgkmtya
//
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