RGL1_HUMAN
ID RGL1_HUMAN Reviewed; 768 AA.
AC Q9NZL6; Q5SXQ2; Q5SXQ6; Q9HBY3; Q9HBY4; Q9NZL5; Q9UG43; Q9Y2G6;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Ral guanine nucleotide dissociation stimulator-like 1;
DE Short=RalGDS-like 1;
GN Name=RGL1; Synonyms=KIAA0959, RGL;
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 [GENOMIC DNA / MRNA] (ISOFORMS A AND B).
RX PubMed=10760592; DOI=10.1016/s0167-4781(00)00031-2;
RA Sood R., Makalowska I., Carpten J.D., Robbins C.M., Stephan D.A.,
RA Connors T.D., Morgenbesser S.D., Su K., Pinkett H.W., Graham C.L.,
RA Quesenberry M.I., Baxevanis A.D., Klinger K.W., Trent J.M., Bonner T.I.;
RT "The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic
RT organization.";
RL Biochim. Biophys. Acta 1491:285-288(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [3]
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-768 (ISOFORM A).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [8]
RP VARIANTS [LARGE SCALE ANALYSIS] SER-174 AND MET-699.
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: Probable guanine nucleotide exchange factor.
CC -!- SUBUNIT: Interacts with Ras. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NZL6; P01112: HRAS; NbExp=3; IntAct=EBI-365926, EBI-350145;
CC Q9NZL6-2; P10114: RAP2A; NbExp=3; IntAct=EBI-23868346, EBI-602366;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=A;
CC IsoId=Q9NZL6-1; Sequence=Displayed;
CC Name=B;
CC IsoId=Q9NZL6-2; Sequence=VSP_001824;
CC -!- TISSUE SPECIFICITY: Expressed in a wide variety of tissues with strong
CC expression being seen in the heart, brain, kidney, spleen and testis.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76803.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF186779; AAF67280.1; -; mRNA.
DR EMBL; AF186780; AAF67281.1; -; mRNA.
DR EMBL; AF186798; AAG14400.1; -; Genomic_DNA.
DR EMBL; AF186781; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186783; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186784; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186785; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186786; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186787; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186788; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186789; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186790; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186791; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186792; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186793; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186794; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186795; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186796; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186797; AAG14400.1; JOINED; Genomic_DNA.
DR EMBL; AF186798; AAG14401.1; -; Genomic_DNA.
DR EMBL; AF192520; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186783; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186784; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186785; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186786; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186787; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186788; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186789; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186790; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186791; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186792; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186793; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186794; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186795; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186796; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AF186797; AAG14401.1; JOINED; Genomic_DNA.
DR EMBL; AB023176; BAA76803.1; ALT_INIT; mRNA.
DR EMBL; AL590422; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL592299; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91166.1; -; Genomic_DNA.
DR EMBL; CH471067; EAW91167.1; -; Genomic_DNA.
DR EMBL; BC136591; AAI36592.1; -; mRNA.
DR EMBL; AL080117; CAB45716.1; -; mRNA.
DR CCDS; CCDS1359.1; -. [Q9NZL6-2]
DR CCDS; CCDS72992.1; -. [Q9NZL6-1]
DR PIR; T12453; T12453.
DR RefSeq; NP_001284598.1; NM_001297669.1.
DR RefSeq; NP_001284599.1; NM_001297670.1.
DR RefSeq; NP_001284600.1; NM_001297671.1. [Q9NZL6-1]
DR RefSeq; NP_001284601.1; NM_001297672.1.
DR RefSeq; NP_055964.3; NM_015149.4. [Q9NZL6-2]
DR RefSeq; XP_011507641.1; XM_011509339.2. [Q9NZL6-2]
DR AlphaFoldDB; Q9NZL6; -.
DR SMR; Q9NZL6; -.
DR BioGRID; 116791; 15.
DR DIP; DIP-31372N; -.
DR IntAct; Q9NZL6; 4.
DR STRING; 9606.ENSP00000303192; -.
DR iPTMnet; Q9NZL6; -.
DR PhosphoSitePlus; Q9NZL6; -.
DR BioMuta; RGL1; -.
DR DMDM; 14548230; -.
DR EPD; Q9NZL6; -.
DR jPOST; Q9NZL6; -.
DR MassIVE; Q9NZL6; -.
DR PaxDb; Q9NZL6; -.
DR PeptideAtlas; Q9NZL6; -.
DR PRIDE; Q9NZL6; -.
DR ProteomicsDB; 83430; -. [Q9NZL6-1]
DR ProteomicsDB; 83431; -. [Q9NZL6-2]
DR Antibodypedia; 20603; 139 antibodies from 28 providers.
DR DNASU; 23179; -.
DR Ensembl; ENST00000304685.8; ENSP00000303192.3; ENSG00000143344.16. [Q9NZL6-2]
DR Ensembl; ENST00000360851.4; ENSP00000354097.3; ENSG00000143344.16. [Q9NZL6-1]
DR GeneID; 23179; -.
DR KEGG; hsa:23179; -.
DR MANE-Select; ENST00000360851.4; ENSP00000354097.3; NM_001297671.3; NP_001284600.1.
DR UCSC; uc001gqm.4; human. [Q9NZL6-1]
DR CTD; 23179; -.
DR DisGeNET; 23179; -.
DR GeneCards; RGL1; -.
DR HGNC; HGNC:30281; RGL1.
DR HPA; ENSG00000143344; Low tissue specificity.
DR MIM; 605667; gene.
DR neXtProt; NX_Q9NZL6; -.
DR OpenTargets; ENSG00000143344; -.
DR PharmGKB; PA134934636; -.
DR VEuPathDB; HostDB:ENSG00000143344; -.
DR eggNOG; KOG3629; Eukaryota.
DR GeneTree; ENSGT00940000156012; -.
DR HOGENOM; CLU_010252_0_1_1; -.
DR InParanoid; Q9NZL6; -.
DR OMA; EQFNGLY; -.
DR OrthoDB; 940219at2759; -.
DR PhylomeDB; Q9NZL6; -.
DR TreeFam; TF315204; -.
DR PathwayCommons; Q9NZL6; -.
DR Reactome; R-HSA-1989781; PPARA activates gene expression.
DR Reactome; R-HSA-5673001; RAF/MAP kinase cascade.
DR SignaLink; Q9NZL6; -.
DR BioGRID-ORCS; 23179; 8 hits in 1067 CRISPR screens.
DR ChiTaRS; RGL1; human.
DR GenomeRNAi; 23179; -.
DR Pharos; Q9NZL6; Tbio.
DR PRO; PR:Q9NZL6; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9NZL6; protein.
DR Bgee; ENSG00000143344; Expressed in endothelial cell and 203 other tissues.
DR Genevisible; Q9NZL6; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IBA:GO_Central.
DR GO; GO:0007265; P:Ras protein signal transduction; IBA:GO_Central.
DR GO; GO:0007264; P:small GTPase mediated signal transduction; NAS:UniProtKB.
DR CDD; cd00155; RasGEF; 1.
DR CDD; cd06224; REM; 1.
DR Gene3D; 1.10.840.10; -; 1.
DR InterPro; IPR000159; RA_dom.
DR InterPro; IPR008937; Ras-like_GEF.
DR InterPro; IPR000651; Ras-like_Gua-exchang_fac_N.
DR InterPro; IPR019804; Ras_G-nucl-exch_fac_CS.
DR InterPro; IPR023578; Ras_GEF_dom_sf.
DR InterPro; IPR001895; RASGEF_cat_dom.
DR InterPro; IPR036964; RASGEF_cat_dom_sf.
DR InterPro; IPR030748; RGL1.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR PANTHER; PTHR23113; PTHR23113; 1.
DR PANTHER; PTHR23113:SF199; PTHR23113:SF199; 1.
DR Pfam; PF00788; RA; 1.
DR Pfam; PF00617; RasGEF; 1.
DR Pfam; PF00618; RasGEF_N; 1.
DR SMART; SM00314; RA; 1.
DR SMART; SM00147; RasGEF; 1.
DR SMART; SM00229; RasGEFN; 1.
DR SUPFAM; SSF48366; SSF48366; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50200; RA; 1.
DR PROSITE; PS00720; RASGEF; 1.
DR PROSITE; PS50009; RASGEF_CAT; 1.
DR PROSITE; PS50212; RASGEF_NTER; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Guanine-nucleotide releasing factor; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..768
FT /note="Ral guanine nucleotide dissociation stimulator-like
FT 1"
FT /id="PRO_0000068885"
FT DOMAIN 65..196
FT /note="N-terminal Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00135"
FT DOMAIN 232..501
FT /note="Ras-GEF"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00168"
FT DOMAIN 648..735
FT /note="Ras-associating"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00166"
FT REGION 528..623
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 528..569
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 583..623
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 520
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q60695"
FT VAR_SEQ 1..9
FT /note="MKLLWQAKM -> MEVKPVGEPTQEVSKFKLSTKVESTGHWLVEDHVRIWEV
FT LKTEE (in isoform B)"
FT /evidence="ECO:0000303|PubMed:10760592,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_001824"
FT VARIANT 174
FT /note="Y -> S (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035823"
FT VARIANT 699
FT /note="V -> M (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035824"
FT CONFLICT 15
FT /note="W -> G (in Ref. 6)"
FT /evidence="ECO:0000305"
FT CONFLICT 687
FT /note="N -> Y (in Ref. 6)"
FT /evidence="ECO:0000305"
FT CONFLICT 761
FT /note="N -> Y (in Ref. 1; AAF67281)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 768 AA; 86701 MW; 5EE4AF6D5E0C2386 CRC64;
MKLLWQAKMS SIQDWGEEVE EGAVYHVTLK RVQIQQAANK GARWLGVEGD QLPPGHTVSQ
YETCKIRTIK AGTLEKLVEN LLTAFGDNDF TYISIFLSTY RGFASTKEVL ELLLDRYGNL
TSPNCEEDGS QSSSESKMVI RNAIASILRA WLDQCAEDFR EPPHFPCLQK LLDYLTRMMP
GSDPERRAQN LLEQFQKQEV ETDNGLPNTI SFSLEEEEEL EGGESAEFTC FSEDLVAEQL
TYMDAQLFKK VVPHHCLGCI WSRRDKKENK HLAPTIRATI SQFNTLTKCV VSTILGGKEL
KTQQRAKIIE KWINIAHECR LLKNFSSLRA IVSALQSNSI YRLKKTWAAV PRDRMLMFEE
LSDIFSDHNN HLTSRELLMK EGTSKFANLD SSVKENQKRT QRRLQLQKDM GVMQGTVPYL
GTFLTDLTML DTALQDYIEG GLINFEKRRR EFEVIAQIKL LQSACNSYCM TPDQKFIQWF
QRQQLLTEEE SYALSCEIEA AADASTTSPK PRKSMVKRLS LLFLGSDMIT SPTPTKEQPK
STASGSSGES MDSVSVSSCE SNHSEAEEGS ITPMDTPDEP QKKLSESSSS CSSIHSMDTN
SSGMSSLINP LSSPPSCNNN PKIHKRSVSV TSITSTVLPP VYNQQNEDTC IIRISVEDNN
GNMYKSIMLT SQDKTPAVIQ RAMLKHNLDS DPAEEYELVQ VISEDKELVI PDSANVFYAM
NSQVNFDFIL RKKNSMEEQV KLRSRTSLTL PRTAKRGCWS NRHSKITL
