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 08-MAY-2019, entry version 125. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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 RT 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., RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J., RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., RA 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., RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., RA 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., RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., RA Khan A.S., Lane L., Tilahun Y., 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 RP ARG-24; 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 RT project: 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 Note=No experimental confirmation available.; CC -!- SEQUENCE CAUTION: CC Sequence=AAI01109.1; Type=Frameshift; Positions=61; 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; 7. 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; -. 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; HPA035979; -. DR MIM; 612214; gene. DR neXtProt; NX_Q8IZJ4; -. DR OpenTargets; ENSG00000159496; -. DR PharmGKB; PA162401277; -. DR eggNOG; KOG3629; Eukaryota. DR eggNOG; ENOG410ZUT5; LUCA. DR GeneTree; ENSGT00940000161598; -. DR HOGENOM; HOG000231592; -. DR InParanoid; Q8IZJ4; -. DR OrthoDB; 940219at2759; -. DR PhylomeDB; Q8IZJ4; -. DR TreeFam; TF342571; -. DR GenomeRNAi; 266747; -. DR PRO; PR:Q8IZJ4; -. DR Proteomes; UP000005640; Chromosome 22. DR Bgee; ENSG00000159496; Expressed in 97 organ(s), highest expression level in blood. 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; Complete proteome; Cytoplasmic vesicle; KW Guanine-nucleotide releasing factor; Polymorphism; Reference proteome. FT CHAIN 1 473 Ral-GDS-related protein. FT /FTId=PRO_0000068890. FT DOMAIN 219 471 Ras-GEF. {ECO:0000255|PROSITE- FT ProRule:PRU00168}. FT COMPBIAS 116 220 Pro-rich. FT VAR_SEQ 461 473 SYKLSCQLEPENP -> RWGFTMMSRIVSNSWPQAIHPPQP FT PKVLTLQV (in isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_055850. FT VARIANT 24 24 Q -> R (in dbSNP:rs738786). FT {ECO:0000269|PubMed:15489334}. FT /FTId=VAR_016244. FT VARIANT 37 37 R -> C (in dbSNP:rs17003394). FT /FTId=VAR_051905. FT VARIANT 216 216 T -> M (in dbSNP:rs17003397). FT /FTId=VAR_051906. FT VARIANT 241 241 H -> Y (in dbSNP:rs2070446). FT {ECO:0000269|PubMed:15489334}. FT /FTId=VAR_016245. FT VARIANT 297 297 E -> K (in dbSNP:rs17003398). FT /FTId=VAR_051907. FT VARIANT 342 342 M -> R (in dbSNP:rs2070449). FT /FTId=VAR_016246. FT VARIANT 358 358 D -> V (in dbSNP:rs8137247). FT /FTId=VAR_051908. FT VARIANT 378 378 V -> A (in dbSNP:rs1007298). FT {ECO:0000269|PubMed:15489334}. FT /FTId=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 //