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
//