DEN2C_HUMAN
ID DEN2C_HUMAN Reviewed; 928 AA.
AC Q68D51; B1AL26; Q5TCX6; Q6P3R3;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=DENN domain-containing protein 2C;
GN Name=DENND2C;
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 3), AND VARIANTS
RP GLU-2 AND GLY-170.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLU-2.
RC TISSUE=Testis;
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 [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 IDENTIFICATION BY 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 RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting
CC inactive GDP-bound Rab proteins into their active GTP-bound form.
CC {ECO:0000269|PubMed:20937701}.
CC -!- INTERACTION:
CC Q68D51-2; O76024: WFS1; NbExp=3; IntAct=EBI-13075846, EBI-720609;
CC Q68D51-2; P07947: YES1; NbExp=3; IntAct=EBI-13075846, EBI-515331;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q68D51-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q68D51-2; Sequence=VSP_019468;
CC Name=3;
CC IsoId=Q68D51-3; Sequence=VSP_036782;
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DR EMBL; BX647950; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR749576; CAH18369.1; -; mRNA.
DR EMBL; AL133382; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC063894; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS58018.1; -. [Q68D51-1]
DR CCDS; CCDS875.1; -. [Q68D51-3]
DR RefSeq; NP_001243333.1; NM_001256404.1. [Q68D51-1]
DR RefSeq; NP_940861.3; NM_198459.3. [Q68D51-3]
DR AlphaFoldDB; Q68D51; -.
DR SMR; Q68D51; -.
DR BioGRID; 127862; 14.
DR IntAct; Q68D51; 9.
DR STRING; 9606.ENSP00000376955; -.
DR GlyGen; Q68D51; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q68D51; -.
DR PhosphoSitePlus; Q68D51; -.
DR BioMuta; DENND2C; -.
DR DMDM; 109825713; -.
DR EPD; Q68D51; -.
DR jPOST; Q68D51; -.
DR MassIVE; Q68D51; -.
DR MaxQB; Q68D51; -.
DR PeptideAtlas; Q68D51; -.
DR PRIDE; Q68D51; -.
DR ProteomicsDB; 66050; -. [Q68D51-1]
DR ProteomicsDB; 66051; -. [Q68D51-2]
DR ProteomicsDB; 66052; -. [Q68D51-3]
DR Antibodypedia; 33861; 93 antibodies from 16 providers.
DR DNASU; 163259; -.
DR Ensembl; ENST00000393274.6; ENSP00000376955.1; ENSG00000175984.15. [Q68D51-1]
DR Ensembl; ENST00000393276.7; ENSP00000376957.3; ENSG00000175984.15. [Q68D51-3]
DR Ensembl; ENST00000393277.2; ENSP00000376958.2; ENSG00000175984.15. [Q68D51-1]
DR GeneID; 163259; -.
DR KEGG; hsa:163259; -.
DR MANE-Select; ENST00000393274.6; ENSP00000376955.1; NM_001256404.2; NP_001243333.1.
DR UCSC; uc001efc.2; human. [Q68D51-1]
DR CTD; 163259; -.
DR GeneCards; DENND2C; -.
DR HGNC; HGNC:24748; DENND2C.
DR HPA; ENSG00000175984; Tissue enhanced (esophagus, skeletal muscle).
DR neXtProt; NX_Q68D51; -.
DR OpenTargets; ENSG00000175984; -.
DR PharmGKB; PA142671985; -.
DR VEuPathDB; HostDB:ENSG00000175984; -.
DR eggNOG; KOG3569; Eukaryota.
DR GeneTree; ENSGT00950000182931; -.
DR HOGENOM; CLU_008960_2_0_1; -.
DR InParanoid; Q68D51; -.
DR OMA; FEVRAHQ; -.
DR OrthoDB; 138384at2759; -.
DR PhylomeDB; Q68D51; -.
DR TreeFam; TF320336; -.
DR PathwayCommons; Q68D51; -.
DR Reactome; R-HSA-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR SignaLink; Q68D51; -.
DR BioGRID-ORCS; 163259; 19 hits in 1067 CRISPR screens.
DR ChiTaRS; DENND2C; human.
DR GenomeRNAi; 163259; -.
DR Pharos; Q68D51; Tbio.
DR PRO; PR:Q68D51; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q68D51; protein.
DR Bgee; ENSG00000175984; Expressed in esophagus squamous epithelium and 148 other tissues.
DR Genevisible; Q68D51; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IDA:UniProtKB.
DR Gene3D; 3.40.50.11500; -; 1.
DR InterPro; IPR001194; cDENN_dom.
DR InterPro; IPR005112; dDENN_dom.
DR InterPro; IPR043153; DENN_C.
DR InterPro; IPR037516; Tripartite_DENN.
DR InterPro; IPR005113; uDENN_dom.
DR Pfam; PF03455; dDENN; 1.
DR Pfam; PF02141; DENN; 1.
DR Pfam; PF03456; uDENN; 1.
DR SMART; SM00801; dDENN; 1.
DR SMART; SM00799; DENN; 1.
DR SMART; SM00800; uDENN; 1.
DR PROSITE; PS50211; DENN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Guanine-nucleotide releasing factor; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..928
FT /note="DENN domain-containing protein 2C"
FT /id="PRO_0000242684"
FT DOMAIN 492..641
FT /note="uDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT DOMAIN 663..796
FT /note="cDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT DOMAIN 798..888
FT /note="dDENN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00304"
FT REGION 67..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 245..266
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 428..456
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 83..105
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 271
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6P9P8"
FT VAR_SEQ 354..410
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_036782"
FT VAR_SEQ 642..753
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019468"
FT VARIANT 2
FT /note="D -> E (in dbSNP:rs7541738)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_026859"
FT VARIANT 170
FT /note="D -> G (in dbSNP:rs12136548)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_026860"
FT CONFLICT 392
FT /note="K -> Q (in Ref. 1; CAH18369)"
FT /evidence="ECO:0000305"
FT CONFLICT 769
FT /note="A -> T (in Ref. 1; BX647950)"
FT /evidence="ECO:0000305"
FT CONFLICT 774
FT /note="Q -> H (in Ref. 1; CAH18369)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 928 AA; 106865 MW; 2B450938D2199731 CRC64;
MDVGFSRTTV QTLSRSHCKN IKQKISQWEG RANGISNPEK WCPKDFGVRY NCHQEIRLKK
NPIAERKSKN LDVTSRENVG LDINENTKSH DQSENENKKH EYDDTHFFKN ESESNWVCSR
VKEIESCKED VLDPETSLPP GNFYTSQILW KKIEALPPDK LLNLALEHCD SSEKELNFRV
LDSSYGITKS LENIYSEPEG QECGPSINPL PKPRRTFRYL SESGVTPYKE RNCDKKYCEN
NSCAQSSLAS SQEPEPKKYG GKIRGRSKRK SFEFEDIQHF RNRNSQTIRE ELGRNSGSAL
YYTQSEDNIY EDIIYPTKEN PYEDIPVQPL PMWRSPSAWK LPPAKSAFKA PKLPPKPQFL
HRKTMEVKNS QAYLRSKLTK DTTLPVTLTE WKLFRAGEVA NTKRKNLPRL VLKIDDIFES
KRGKKKVKLH SYTGKELPPT KGETSGNESD AEYLPKNRHK RLAQLQPSSK RNPHYQTLER
DLIELQEQQL FELFVVVSLQ KKPSGISYIP QVIQQFPGKD DHGYKQSKDM EERLKVIPKF
CFPDSKDWMP TSELKSETFS FVLTGEDGSR WFGYCKKLLP VGKGKRLPEV YCMVSRLGCF
NLFSKILDEV EKRREMSPAL VYPFMRSVME APFPAPGRTI TVKSYLPGAG DESIELCRPL
DSRLEHVDFK CLFKCLSVCH LIRVCASLLL ERRVIFVANS LSTLSKCGHA VVATLYPFTW
QHTYIPVLPA SMIDIVCSPT PFLIGILSCS LPQLQDLPIE EVLIVDLCAD KFLQEVSDED
EILPPKLQAA LMQILEERNE ILTQEQNFSQ DVTLNSLVSE AFVRFFVELV GHYSLNMTVT
ERGERVFQRE PFRKSHTSRS VRHFLDLFME TQMFAGFIQD RELRKSGVKG LFEIRAIQYL
ETIPESEPSG MNRILRSLGS KMKFLQKK
