R3GEF_HUMAN
ID R3GEF_HUMAN Reviewed; 382 AA.
AC Q8TBN0; Q86V32; Q9P1Q8;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Guanine nucleotide exchange factor for Rab-3A;
DE AltName: Full=Rab-3A-interacting-like protein 1;
DE Short=Rab3A-interacting-like protein 1;
DE AltName: Full=Rabin3-like 1;
GN Name=RAB3IL1;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Bone, and Colon;
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 69-382 (ISOFORM 1).
RA Marquardt A., Stoehr H., Passmore L.A., Kraemer F., Rivera A.,
RA Weber B.H.F.;
RT "Genomic characterization of eight novel genes from within the former
RT Best's disease candidate region in 11q12-q13.1.";
RL Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [4]
RP FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.
RX PubMed=20937701; DOI=10.1083/jcb.201008051;
RA Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.;
RT "Family-wide characterization of the DENN domain Rab GDP-GTP exchange
RT factors.";
RL J. Cell Biol. 191:367-381(2010).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168 AND SER-179, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168, AND IDENTIFICATION BY
RP 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).
CC -!- FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate
CC RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes
CC the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins
CC into their active GTP-bound form. May also activate RAB8A and RAB8B.
CC {ECO:0000269|PubMed:20937701}.
CC -!- SUBUNIT: Interacts with RAB3A and IHPK1 through the coiled-coil domain.
CC This interaction is competitive. IHPK1 kinase activity is not required
CC for this interaction (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q8TBN0; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-743796, EBI-725606;
CC Q8TBN0; Q2NKX9: C2orf68; NbExp=3; IntAct=EBI-743796, EBI-11603468;
CC Q8TBN0; Q2TAC2: CCDC57; NbExp=3; IntAct=EBI-743796, EBI-2808286;
CC Q8TBN0; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-743796, EBI-3866319;
CC Q8TBN0; Q9GZU7: CTDSP1; NbExp=3; IntAct=EBI-743796, EBI-751587;
CC Q8TBN0; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-743796, EBI-3867333;
CC Q8TBN0; Q5TD97: FHL5; NbExp=3; IntAct=EBI-743796, EBI-750641;
CC Q8TBN0; O75031: HSF2BP; NbExp=3; IntAct=EBI-743796, EBI-7116203;
CC Q8TBN0; O76011: KRT34; NbExp=3; IntAct=EBI-743796, EBI-1047093;
CC Q8TBN0; Q6A162: KRT40; NbExp=3; IntAct=EBI-743796, EBI-10171697;
CC Q8TBN0; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-743796, EBI-742948;
CC Q8TBN0; Q5JR59-3: MTUS2; NbExp=4; IntAct=EBI-743796, EBI-11522433;
CC Q8TBN0; Q7Z3S9: NOTCH2NLA; NbExp=4; IntAct=EBI-743796, EBI-945833;
CC Q8TBN0; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-743796, EBI-22310682;
CC Q8TBN0; Q6ZVK8: NUDT18; NbExp=3; IntAct=EBI-743796, EBI-740486;
CC Q8TBN0; P25788: PSMA3; NbExp=3; IntAct=EBI-743796, EBI-348380;
CC Q8TBN0; P20336: RAB3A; NbExp=3; IntAct=EBI-743796, EBI-1045943;
CC Q8TBN0; Q8TBN0: RAB3IL1; NbExp=3; IntAct=EBI-743796, EBI-743796;
CC Q8TBN0; Q96QF0: RAB3IP; NbExp=9; IntAct=EBI-743796, EBI-747844;
CC Q8TBN0; Q9UPW6: SATB2; NbExp=3; IntAct=EBI-743796, EBI-8298169;
CC Q8TBN0; Q16623: STX1A; NbExp=3; IntAct=EBI-743796, EBI-712466;
CC Q8TBN0; Q6NT04: TIGD7; NbExp=3; IntAct=EBI-743796, EBI-3916512;
CC Q8TBN0; Q86TV6: TTC7B; NbExp=3; IntAct=EBI-743796, EBI-12006098;
CC Q8TBN0; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-743796, EBI-25492395;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TBN0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBN0-2; Sequence=VSP_028344, VSP_028345;
CC -!- SIMILARITY: Belongs to the SEC2 family. {ECO:0000305}.
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DR EMBL; BC022239; AAH22239.1; -; mRNA.
DR EMBL; BC051820; AAH51820.1; -; mRNA.
DR EMBL; AF084557; AAF28399.1; -; mRNA.
DR CCDS; CCDS60809.1; -. [Q8TBN0-2]
DR CCDS; CCDS8014.1; -. [Q8TBN0-1]
DR RefSeq; NP_001258615.1; NM_001271686.1. [Q8TBN0-2]
DR RefSeq; NP_037533.2; NM_013401.3. [Q8TBN0-1]
DR PDB; 4LI0; X-ray; 3.30 A; C/D/E/F=73-154.
DR PDBsum; 4LI0; -.
DR AlphaFoldDB; Q8TBN0; -.
DR SMR; Q8TBN0; -.
DR BioGRID; 111804; 63.
DR IntAct; Q8TBN0; 38.
DR STRING; 9606.ENSP00000378313; -.
DR iPTMnet; Q8TBN0; -.
DR PhosphoSitePlus; Q8TBN0; -.
DR BioMuta; RAB3IL1; -.
DR DMDM; 74730489; -.
DR EPD; Q8TBN0; -.
DR jPOST; Q8TBN0; -.
DR MassIVE; Q8TBN0; -.
DR MaxQB; Q8TBN0; -.
DR PaxDb; Q8TBN0; -.
DR PeptideAtlas; Q8TBN0; -.
DR PRIDE; Q8TBN0; -.
DR ProteomicsDB; 74033; -. [Q8TBN0-1]
DR ProteomicsDB; 74034; -. [Q8TBN0-2]
DR Antibodypedia; 28364; 193 antibodies from 21 providers.
DR DNASU; 5866; -.
DR Ensembl; ENST00000301773.9; ENSP00000301773.5; ENSG00000167994.13. [Q8TBN0-2]
DR Ensembl; ENST00000394836.7; ENSP00000378313.2; ENSG00000167994.13. [Q8TBN0-1]
DR GeneID; 5866; -.
DR KEGG; hsa:5866; -.
DR MANE-Select; ENST00000394836.7; ENSP00000378313.2; NM_013401.4; NP_037533.2.
DR UCSC; uc001nso.5; human. [Q8TBN0-1]
DR CTD; 5866; -.
DR DisGeNET; 5866; -.
DR GeneCards; RAB3IL1; -.
DR HGNC; HGNC:9780; RAB3IL1.
DR HPA; ENSG00000167994; Low tissue specificity.
DR neXtProt; NX_Q8TBN0; -.
DR OpenTargets; ENSG00000167994; -.
DR PharmGKB; PA34135; -.
DR VEuPathDB; HostDB:ENSG00000167994; -.
DR eggNOG; KOG4324; Eukaryota.
DR GeneTree; ENSGT00940000159102; -.
DR HOGENOM; CLU_038204_1_0_1; -.
DR InParanoid; Q8TBN0; -.
DR OMA; CPFLDRV; -.
DR OrthoDB; 619794at2759; -.
DR PhylomeDB; Q8TBN0; -.
DR TreeFam; TF313748; -.
DR PathwayCommons; Q8TBN0; -.
DR Reactome; R-HSA-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR SignaLink; Q8TBN0; -.
DR BioGRID-ORCS; 5866; 15 hits in 1080 CRISPR screens.
DR ChiTaRS; RAB3IL1; human.
DR GenomeRNAi; 5866; -.
DR Pharos; Q8TBN0; Tbio.
DR PRO; PR:Q8TBN0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8TBN0; protein.
DR Bgee; ENSG00000167994; Expressed in type B pancreatic cell and 161 other tissues.
DR ExpressionAtlas; Q8TBN0; baseline and differential.
DR Genevisible; Q8TBN0; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070319; C:Golgi to plasma membrane transport vesicle; IBA:GO_Central.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0006887; P:exocytosis; IBA:GO_Central.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR040351; RAB3IL/RAB3IP/Sec2.
DR InterPro; IPR009449; Sec2_N.
DR PANTHER; PTHR14430; PTHR14430; 1.
DR Pfam; PF06428; Sec2p; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Coiled coil;
KW Guanine-nucleotide releasing factor; Phosphoprotein; Protein transport;
KW Reference proteome; Transport.
FT CHAIN 1..382
FT /note="Guanine nucleotide exchange factor for Rab-3A"
FT /id="PRO_0000305295"
FT REGION 1..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 166..198
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 73..161
FT /evidence="ECO:0000255"
FT COMPBIAS 1..21
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 168
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 179
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..4
FT /note="MWSG -> MDSSEEHAGCPARGTCPVFLAMSAGTVRYAPSGLCPVLEGNLRE
FT EPWGTDS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028344"
FT VAR_SEQ 147..219
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028345"
FT VARIANT 49
FT /note="Q -> R (in dbSNP:rs174477)"
FT /id="VAR_035203"
FT VARIANT 323
FT /note="H -> Y (in dbSNP:rs3815045)"
FT /id="VAR_035204"
FT HELIX 80..146
FT /evidence="ECO:0007829|PDB:4LI0"
SQ SEQUENCE 382 AA; 42637 MW; 952C14B47CAEC7F9 CRC64;
MWSGPPQPDQ GLPPPLAAVP VPWKSTDPCQ GHRESPGALV ETSAGEEAQG QEGPAAAQLD
VLRLRSSSME IREKGSEFLK EELHRAQKEL KLKDEECERL SKVREQLEQE LEELTASLFE
EAHKMVREAN MKQAASEKQL KEARGKIDML QAEVTALKTL VITSTPASPN RELHPQLLSP
TKAGPRKGHS RHKSTSSTLC PAVCPAAGHT LTPDREGKEV DTILFAEFQA WRESPTLDKT
CPFLERVYRE DVGPCLDFTM QELSVLVRAA VEDNTLTIEP VASQTLPTVK VAEVDCSSTN
TCALSGLTRT CRHRIRLGDS KSHYYISPSS RARITAVCNF FTYIRYIQQG LVRQDAEPMF
WEIMRLRKEM SLAKLGFFPQ EA
