SRGEF_HUMAN
ID SRGEF_HUMAN Reviewed; 458 AA.
AC Q9UGK8; Q9UGK9;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Secretion-regulating guanine nucleotide exchange factor;
DE AltName: Full=Deafness locus-associated putative guanine nucleotide exchange factor;
DE Short=DelGEF;
DE AltName: Full=Guanine nucleotide exchange factor-related protein;
GN Name=SERGEF; Synonyms=DELGEF, GNEFR;
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] (ISOFORMS 1 AND 2), AND SUBCELLULAR LOCATION.
RC TISSUE=Fetal brain;
RX PubMed=10571079; DOI=10.1016/s0014-5793(99)01333-2;
RA Uhlmann J., Wiemann S., Ponstingl H.;
RT "DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14
RT critical for two forms of hereditary deafness.";
RL FEBS Lett. 460:153-160(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
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 [3]
RP INTERACTION WITH SEC5.
RX PubMed=12459492; DOI=10.1016/s0014-5793(02)03677-3;
RA Sjoelinder M., Uhlmann J., Ponstingl H.;
RT "DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF,
RT binds to the exocyst component Sec5 and modulates secretion.";
RL FEBS Lett. 532:211-215(2002).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-427, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=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).
CC -!- FUNCTION: Probable guanine nucleotide exchange factor (GEF), which may
CC be involved in the secretion process.
CC -!- SUBUNIT: Interacts with SEC5. The interaction occurs only in the
CC presence of magnesium or manganese and is stimulated by dCTP or GTP.
CC {ECO:0000269|PubMed:12459492}.
CC -!- INTERACTION:
CC Q9UGK8; Q96FX2: DPH3; NbExp=7; IntAct=EBI-465368, EBI-465363;
CC Q9UGK8; O75593: FOXH1; NbExp=3; IntAct=EBI-465368, EBI-1759806;
CC Q9UGK8; O14964: HGS; NbExp=3; IntAct=EBI-465368, EBI-740220;
CC Q9UGK8; O60341: KDM1A; NbExp=2; IntAct=EBI-465368, EBI-710124;
CC Q9UGK8; P78337: PITX1; NbExp=3; IntAct=EBI-465368, EBI-748265;
CC Q9UGK8; Q96LA8: PRMT6; NbExp=2; IntAct=EBI-465368, EBI-912440;
CC Q9UGK8; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-465368, EBI-11959123;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10571079}. Nucleus
CC {ECO:0000269|PubMed:10571079}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=DelGEF1;
CC IsoId=Q9UGK8-1; Sequence=Displayed;
CC Name=2; Synonyms=DelGEF2;
CC IsoId=Q9UGK8-2; Sequence=VSP_050614, VSP_050615;
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DR EMBL; AJ243950; CAB60832.1; -; mRNA.
DR EMBL; AJ243951; CAB60833.1; -; mRNA.
DR EMBL; BC065375; AAH65375.1; -; mRNA.
DR CCDS; CCDS7828.1; -. [Q9UGK8-1]
DR RefSeq; NP_036271.1; NM_012139.3. [Q9UGK8-1]
DR AlphaFoldDB; Q9UGK8; -.
DR SMR; Q9UGK8; -.
DR BioGRID; 117674; 12.
DR IntAct; Q9UGK8; 9.
DR MINT; Q9UGK8; -.
DR STRING; 9606.ENSP00000265965; -.
DR GlyGen; Q9UGK8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9UGK8; -.
DR PhosphoSitePlus; Q9UGK8; -.
DR BioMuta; SERGEF; -.
DR DMDM; 38257790; -.
DR EPD; Q9UGK8; -.
DR jPOST; Q9UGK8; -.
DR MassIVE; Q9UGK8; -.
DR MaxQB; Q9UGK8; -.
DR PaxDb; Q9UGK8; -.
DR PeptideAtlas; Q9UGK8; -.
DR PRIDE; Q9UGK8; -.
DR ProteomicsDB; 84229; -. [Q9UGK8-1]
DR ProteomicsDB; 84230; -. [Q9UGK8-2]
DR Antibodypedia; 12179; 102 antibodies from 22 providers.
DR DNASU; 26297; -.
DR Ensembl; ENST00000265965.10; ENSP00000265965.5; ENSG00000129158.11. [Q9UGK8-1]
DR Ensembl; ENST00000528200.5; ENSP00000434188.1; ENSG00000129158.11. [Q9UGK8-2]
DR GeneID; 26297; -.
DR KEGG; hsa:26297; -.
DR MANE-Select; ENST00000265965.10; ENSP00000265965.5; NM_012139.4; NP_036271.1.
DR UCSC; uc001mnm.5; human. [Q9UGK8-1]
DR CTD; 26297; -.
DR DisGeNET; 26297; -.
DR GeneCards; SERGEF; -.
DR HGNC; HGNC:17499; SERGEF.
DR HPA; ENSG00000129158; Low tissue specificity.
DR MIM; 606051; gene.
DR neXtProt; NX_Q9UGK8; -.
DR OpenTargets; ENSG00000129158; -.
DR PharmGKB; PA143485610; -.
DR VEuPathDB; HostDB:ENSG00000129158; -.
DR eggNOG; KOG1426; Eukaryota.
DR GeneTree; ENSGT00940000160684; -.
DR HOGENOM; CLU_005210_0_3_1; -.
DR InParanoid; Q9UGK8; -.
DR OMA; GYESELC; -.
DR PhylomeDB; Q9UGK8; -.
DR TreeFam; TF330842; -.
DR PathwayCommons; Q9UGK8; -.
DR SignaLink; Q9UGK8; -.
DR BioGRID-ORCS; 26297; 16 hits in 1090 CRISPR screens.
DR ChiTaRS; SERGEF; human.
DR GenomeRNAi; 26297; -.
DR Pharos; Q9UGK8; Tdark.
DR PRO; PR:Q9UGK8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9UGK8; protein.
DR Bgee; ENSG00000129158; Expressed in right frontal lobe and 166 other tissues.
DR ExpressionAtlas; Q9UGK8; baseline and differential.
DR Genevisible; Q9UGK8; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:UniProtKB.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; IBA:GO_Central.
DR GO; GO:0050709; P:negative regulation of protein secretion; IDA:HGNC-UCL.
DR GO; GO:0016567; P:protein ubiquitination; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; TAS:UniProtKB.
DR GO; GO:0006511; P:ubiquitin-dependent protein catabolic process; IBA:GO_Central.
DR Gene3D; 2.130.10.30; -; 2.
DR InterPro; IPR009091; RCC1/BLIP-II.
DR InterPro; IPR000408; Reg_chr_condens.
DR Pfam; PF00415; RCC1; 5.
DR PRINTS; PR00633; RCCNDNSATION.
DR SUPFAM; SSF50985; SSF50985; 1.
DR PROSITE; PS00626; RCC1_2; 2.
DR PROSITE; PS50012; RCC1_3; 7.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Guanine-nucleotide releasing factor;
KW Nucleus; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..458
FT /note="Secretion-regulating guanine nucleotide exchange
FT factor"
FT /id="PRO_0000206649"
FT REPEAT 15..67
FT /note="RCC1 1"
FT REPEAT 68..119
FT /note="RCC1 2"
FT REPEAT 120..171
FT /note="RCC1 3"
FT REPEAT 172..230
FT /note="RCC1 4"
FT REPEAT 231..283
FT /note="RCC1 5"
FT REPEAT 284..351
FT /note="RCC1 6"
FT REPEAT 352..402
FT /note="RCC1 7"
FT REGION 420..458
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 425..441
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 442..458
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 427
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 282..288
FT /note="ETGKMFT -> GLLWLRA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10571079"
FT /id="VSP_050614"
FT VAR_SEQ 289..458
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10571079"
FT /id="VSP_050615"
FT VARIANT 429
FT /note="K -> E (in dbSNP:rs1528)"
FT /id="VAR_017156"
FT VARIANT 457
FT /note="G -> E (in dbSNP:rs10788)"
FT /id="VAR_017157"
SQ SEQUENCE 458 AA; 48981 MW; 0284B7E4A88F2A7C CRC64;
MEREPSASEA APAAAALFAW GANSYGQLGL GHKEDVLLPQ QLNDFCKPRS VRRITGGGGH
SAVVTDGGDL FVCGLNKDGQ LGLGHTEDIP YFTPCKSLFG CPIQQVACGW DFTIMLTENG
QVLSCGSNSF GQLGVPHGPR RCVVPQAIEL HKEKVVCIAA GLRHAVAATA SGIVFQWGTG
LASCGRRLCP GQTLPLFFTA KEPSRVTGLE NSKAMCVLAG SDHSASLTDA GEVYVWGSNK
HGQLANEAAF LPVPQKIEAH CFQNEKVTAI WSGWTHLVAQ TETGKMFTWG RADYGQLGRK
LETYEGWKLE KQDSFLPCSR PPNSMPSSPH CLTGATEVSC GSEHNLAIIG GVCYSWGWNE
HGMCGDGTEA NVWAPKPVQA LLSSSGLLVG CGAGHSLALC QLPAHPALVQ DPKVTYLSPD
AIEDTESQKA MDKERNWKER QSETSTQSQS DWSRNGGL
