RGDSR_HUMAN
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 03-AUG-2022, entry version 141.
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};
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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 AlphaFoldDB; Q8IZJ4; -.
DR SMR; Q8IZJ4; -.
DR BioGRID; 129336; 9.
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; 72 antibodies from 18 providers.
DR DNASU; 266747; -.
DR Ensembl; ENST00000290691.10; ENSP00000290691.5; ENSG00000159496.15. [Q8IZJ4-1]
DR GeneID; 266747; -.
DR KEGG; hsa:266747; -.
DR MANE-Select; ENST00000290691.10; ENSP00000290691.5; NM_153615.2; NP_705843.1.
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 enriched (bone).
DR MIM; 612214; gene.
DR neXtProt; NX_Q8IZJ4; -.
DR OpenTargets; ENSG00000159496; -.
DR PharmGKB; PA162401277; -.
DR VEuPathDB; HostDB:ENSG00000159496; -.
DR eggNOG; KOG3629; Eukaryota.
DR GeneTree; ENSGT00940000161598; -.
DR HOGENOM; CLU_010252_4_1_1; -.
DR InParanoid; Q8IZJ4; -.
DR OMA; TWPRENT; -.
DR OrthoDB; 940219at2759; -.
DR PhylomeDB; Q8IZJ4; -.
DR TreeFam; TF342571; -.
DR PathwayCommons; Q8IZJ4; -.
DR SignaLink; Q8IZJ4; -.
DR BioGRID-ORCS; 266747; 15 hits in 1075 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 bone marrow and 101 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: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 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 REGION 117..215
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..189
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 190..213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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
