ID RGDSR_HUMAN Reviewed; 473 AA. AC Q8IZJ4; Q495L8; DT 22-AUG-2003, integrated into UniProtKB/Swiss-Prot. DT 01-MAR-2003, sequence version 1. DT 10-FEB-2021, entry version 135. DE RecName: Full=Ral-GDS-related protein; DE Short=hRGR; DE AltName: Full=Ral guanine nucleotide dissociation stimulator-like 4; DE Short=RalGDS-like 4; GN Name=RGL4; Synonyms=RGR; 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 [MRNA] (ISOFORM 1), AND ALTERNATIVE SPLICING. RC TISSUE=Testis; RX PubMed=12140761; DOI=10.1038/sj.onc.1205694; RA Leonardi P., Kassin E., Hernandez-Munoz I., Diaz R., Inghirami G., RA Pellicer A.; RT "Human rgr: transforming activity and alteration in T-cell malignancies."; RL Oncogene 21:5108-5116(2002). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=10591208; DOI=10.1038/990031; RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C., RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., RA Wright H.; RT "The DNA sequence of human chromosome 22."; RL Nature 402:489-495(1999). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS ARG-24; RP TYR-241 AND ALA-378. 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). CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Comment=A number of isoforms are produced.; CC Name=1; CC IsoId=Q8IZJ4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8IZJ4-2; Sequence=VSP_055850; CC -!- SEQUENCE CAUTION: CC Sequence=AAI01109.1; Type=Frameshift; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY101396; AAM51551.1; -; mRNA. DR EMBL; AP000347; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC101108; AAI01109.1; ALT_FRAME; mRNA. DR CCDS; CCDS13811.1; -. [Q8IZJ4-1] DR RefSeq; NP_001316353.1; NM_001329424.1. DR RefSeq; NP_001316354.1; NM_001329425.1. DR RefSeq; NP_705843.1; NM_153615.1. [Q8IZJ4-1] DR BioGRID; 129336; 8. DR STRING; 9606.ENSP00000290691; -. DR iPTMnet; Q8IZJ4; -. DR PhosphoSitePlus; Q8IZJ4; -. DR BioMuta; RGL4; -. DR DMDM; 34222891; -. DR PaxDb; Q8IZJ4; -. DR PeptideAtlas; Q8IZJ4; -. DR PRIDE; Q8IZJ4; -. DR ProteomicsDB; 71359; -. [Q8IZJ4-1] DR Antibodypedia; 23769; 70 antibodies. DR Ensembl; ENST00000290691; ENSP00000290691; ENSG00000159496. [Q8IZJ4-1] DR GeneID; 266747; -. DR KEGG; hsa:266747; -. DR UCSC; uc002zxn.4; human. [Q8IZJ4-1] DR CTD; 266747; -. DR DisGeNET; 266747; -. DR GeneCards; RGL4; -. DR HGNC; HGNC:31911; RGL4. DR HPA; ENSG00000159496; Tissue enhanced (blood, bone marrow). DR MIM; 612214; gene. DR neXtProt; NX_Q8IZJ4; -. DR OpenTargets; ENSG00000159496; -. DR PharmGKB; PA162401277; -. DR VEuPathDB; HostDB:ENSG00000159496.14; -. DR eggNOG; KOG3629; Eukaryota. DR GeneTree; ENSGT00940000161598; -. DR HOGENOM; CLU_010252_4_1_1; -. DR InParanoid; Q8IZJ4; -. DR OrthoDB; 940219at2759; -. DR PhylomeDB; Q8IZJ4; -. DR TreeFam; TF342571; -. DR PathwayCommons; Q8IZJ4; -. DR BioGRID-ORCS; 266747; 7 hits in 873 CRISPR screens. DR ChiTaRS; RGL4; human. DR GenomeRNAi; 266747; -. DR Pharos; Q8IZJ4; Tdark. DR PRO; PR:Q8IZJ4; -. DR Proteomes; UP000005640; Chromosome 22. DR RNAct; Q8IZJ4; protein. DR Bgee; ENSG00000159496; Expressed in blood and 118 other tissues. DR ExpressionAtlas; Q8IZJ4; baseline and differential. DR Genevisible; Q8IZJ4; HS. DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:UniProtKB-KW. DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW. DR GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro. DR CDD; cd00155; RasGEF; 1. DR Gene3D; 1.10.840.10; -; 1. DR InterPro; IPR008937; Ras-like_GEF. DR InterPro; IPR023578; Ras_GEF_dom_sf. DR InterPro; IPR001895; RASGEF_cat_dom. DR InterPro; IPR036964; RASGEF_cat_dom_sf. DR PANTHER; PTHR23113; PTHR23113; 1. DR Pfam; PF00617; RasGEF; 1. DR SMART; SM00147; RasGEF; 1. DR SUPFAM; SSF48366; SSF48366; 1. DR PROSITE; PS50009; RASGEF_CAT; 1. PE 2: Evidence at transcript level; KW Alternative splicing; Cytoplasmic vesicle; KW Guanine-nucleotide releasing factor; Reference proteome. FT CHAIN 1..473 FT /note="Ral-GDS-related protein" FT /id="PRO_0000068890" FT DOMAIN 219..471 FT /note="Ras-GEF" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00168" FT COMPBIAS 116..220 FT /note="Pro-rich" FT VAR_SEQ 461..473 FT /note="SYKLSCQLEPENP -> RWGFTMMSRIVSNSWPQAIHPPQPPKVLTLQV FT (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_055850" FT VARIANT 24 FT /note="Q -> R (in dbSNP:rs738786)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_016244" FT VARIANT 37 FT /note="R -> C (in dbSNP:rs17003394)" FT /id="VAR_051905" FT VARIANT 216 FT /note="T -> M (in dbSNP:rs17003397)" FT /id="VAR_051906" FT VARIANT 241 FT /note="H -> Y (in dbSNP:rs2070446)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_016245" FT VARIANT 297 FT /note="E -> K (in dbSNP:rs17003398)" FT /id="VAR_051907" FT VARIANT 342 FT /note="M -> R (in dbSNP:rs2070449)" FT /id="VAR_016246" FT VARIANT 358 FT /note="D -> V (in dbSNP:rs8137247)" FT /id="VAR_051908" FT VARIANT 378 FT /note="V -> A (in dbSNP:rs1007298)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_016247" SQ SEQUENCE 473 AA; 52346 MW; 6830037DF2DA0FE0 CRC64; MRKLLTNLPA AAVLSAQVYS AVLQGLWEEN VCGTPGRTRV CTALLYGQVC PFQDSTDGLR TITSILFNWP PENTSVYYQP PQRSSFRIKL AFRNLSWPGL GLEDHQEIVL GQLVLPEPNE AKPDDPAPRP GQHALTMPAL EPAPPLLADL GPALEPESPA ALGPPGYLHS APGPAPAPGE GPPPGTVLEP QSAPESSCPC RGSVKNQPSE ELPDMTTFPP RLLAEQLTLM DAELFKKVVL HECLGCIWGQ GHLKGNEHMA PTVRATIAHF NRLTNCITTS CLGDHSMRAR DRARVVEHWI KVARECLSLN NFSSVHVIVS ALCSNPIGQL HKTWAGVSSK SMKELKELCK KDTAVKRDLL IKAGSFKVAT QERNPQRVQM RLRRQKKGVV PFLGDFLTEL QRLDSAIPDD LDGNTNKRSK EVRVLQEMQL LQVAAMNYRL RPLEKFVTYF TRMEQLSDKE SYKLSCQLEP ENP //