C2D1B_HUMAN
ID C2D1B_HUMAN Reviewed; 858 AA.
AC Q5T0F9; Q49AE8; Q5T0F8; Q5T0G0; Q6ZNQ1; Q96AP3; Q96I04; Q96JJ1;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Coiled-coil and C2 domain-containing protein 1B;
DE AltName: Full=Five prime repressor element under dual repression-binding protein 2;
DE Short=FRE under dual repression-binding protein 2;
DE Short=Freud-2;
GN Name=CC2D1B; Synonyms=KIAA1836;
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] (ISOFORM 5).
RC TISSUE=Umbilical cord;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
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] (ISOFORMS 3 AND 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 462-858 (ISOFORM 2).
RC TISSUE=Skin, Testis, and Uterus;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 141-858 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=19423080; DOI=10.1016/j.biopsych.2009.02.033;
RA Hadjighassem M.R., Austin M.C., Szewczyk B., Daigle M., Stockmeier C.A.,
RA Albert P.R.;
RT "Human Freud-2/CC2D1B: a novel repressor of postsynaptic serotonin-1A
RT receptor expression.";
RL Biol. Psychiatry 66:214-222(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209, 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).
RN [8]
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: Transcription factor that binds specifically to the DRE (dual
CC repressor element) and represses HTR1A gene transcription in neuronal
CC cells. {ECO:0000269|PubMed:19423080}.
CC -!- INTERACTION:
CC Q5T0F9; Q99750: MDFI; NbExp=3; IntAct=EBI-10245204, EBI-724076;
CC Q5T0F9-3; Q99750: MDFI; NbExp=3; IntAct=EBI-13176876, EBI-724076;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19423080}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q5T0F9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T0F9-2; Sequence=VSP_025659;
CC Name=3;
CC IsoId=Q5T0F9-3; Sequence=VSP_025657, VSP_025659, VSP_025661;
CC Name=4;
CC IsoId=Q5T0F9-4; Sequence=VSP_025658, VSP_025660;
CC Name=5;
CC IsoId=Q5T0F9-5; Sequence=VSP_025662, VSP_025663;
CC -!- TISSUE SPECIFICITY: Widely distributed in brain and peripheral tissues.
CC {ECO:0000269|PubMed:19423080}.
CC -!- SIMILARITY: Belongs to the CC2D1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85450.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};
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DR EMBL; AK130874; BAC85450.1; ALT_SEQ; mRNA.
DR EMBL; AL513218; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007912; AAH07912.2; -; mRNA.
DR EMBL; BC016880; AAH16880.1; -; mRNA.
DR EMBL; BC039308; AAH39308.1; -; mRNA.
DR EMBL; AB058739; BAB47465.1; -; mRNA.
DR CCDS; CCDS30714.1; -. [Q5T0F9-1]
DR CCDS; CCDS81323.1; -. [Q5T0F9-2]
DR RefSeq; NP_001317514.1; NM_001330585.1. [Q5T0F9-2]
DR RefSeq; NP_115825.1; NM_032449.2. [Q5T0F9-1]
DR RefSeq; XP_005270647.1; XM_005270590.2. [Q5T0F9-1]
DR AlphaFoldDB; Q5T0F9; -.
DR SMR; Q5T0F9; -.
DR BioGRID; 128291; 31.
DR IntAct; Q5T0F9; 9.
DR STRING; 9606.ENSP00000360642; -.
DR iPTMnet; Q5T0F9; -.
DR PhosphoSitePlus; Q5T0F9; -.
DR BioMuta; CC2D1B; -.
DR DMDM; 74744295; -.
DR EPD; Q5T0F9; -.
DR jPOST; Q5T0F9; -.
DR MassIVE; Q5T0F9; -.
DR MaxQB; Q5T0F9; -.
DR PaxDb; Q5T0F9; -.
DR PeptideAtlas; Q5T0F9; -.
DR PRIDE; Q5T0F9; -.
DR ProteomicsDB; 64156; -. [Q5T0F9-1]
DR ProteomicsDB; 64157; -. [Q5T0F9-2]
DR ProteomicsDB; 64158; -. [Q5T0F9-3]
DR ProteomicsDB; 64159; -. [Q5T0F9-4]
DR ProteomicsDB; 64160; -. [Q5T0F9-5]
DR Antibodypedia; 33001; 64 antibodies from 22 providers.
DR DNASU; 200014; -.
DR Ensembl; ENST00000284376.8; ENSP00000284376.3; ENSG00000154222.15. [Q5T0F9-2]
DR Ensembl; ENST00000371586.6; ENSP00000360642.2; ENSG00000154222.15. [Q5T0F9-1]
DR GeneID; 200014; -.
DR KEGG; hsa:200014; -.
DR MANE-Select; ENST00000284376.8; ENSP00000284376.3; NM_001330585.2; NP_001317514.1. [Q5T0F9-2]
DR UCSC; uc001ctq.3; human. [Q5T0F9-1]
DR CTD; 200014; -.
DR GeneCards; CC2D1B; -.
DR HGNC; HGNC:29386; CC2D1B.
DR HPA; ENSG00000154222; Low tissue specificity.
DR neXtProt; NX_Q5T0F9; -.
DR OpenTargets; ENSG00000154222; -.
DR PharmGKB; PA142672198; -.
DR VEuPathDB; HostDB:ENSG00000154222; -.
DR eggNOG; KOG3837; Eukaryota.
DR GeneTree; ENSGT00390000009595; -.
DR InParanoid; Q5T0F9; -.
DR OMA; KMADECM; -.
DR OrthoDB; 959801at2759; -.
DR PhylomeDB; Q5T0F9; -.
DR TreeFam; TF314229; -.
DR PathwayCommons; Q5T0F9; -.
DR Reactome; R-HSA-9668328; Sealing of the nuclear envelope (NE) by ESCRT-III.
DR SignaLink; Q5T0F9; -.
DR SIGNOR; Q5T0F9; -.
DR BioGRID-ORCS; 200014; 17 hits in 1083 CRISPR screens.
DR ChiTaRS; CC2D1B; human.
DR GenomeRNAi; 200014; -.
DR Pharos; Q5T0F9; Tbio.
DR PRO; PR:Q5T0F9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T0F9; protein.
DR Bgee; ENSG00000154222; Expressed in adenohypophysis and 149 other tissues.
DR ExpressionAtlas; Q5T0F9; baseline and differential.
DR Genevisible; Q5T0F9; HS.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005635; C:nuclear envelope; TAS:Reactome.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd08690; C2_Freud-1; 1.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR037772; C2_Freud.
DR InterPro; IPR039725; CC2D1A/B.
DR InterPro; IPR006608; DM14.
DR PANTHER; PTHR13076; PTHR13076; 1.
DR Pfam; PF00168; C2; 1.
DR SMART; SM00239; C2; 1.
DR SMART; SM00685; DM14; 4.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..858
FT /note="Coiled-coil and C2 domain-containing protein 1B"
FT /id="PRO_0000288426"
FT DOMAIN 676..815
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 112..164
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 180..199
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 204..284
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 329..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 470..533
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 166..212
FT /evidence="ECO:0000255"
FT COILED 611..635
FT /evidence="ECO:0000255"
FT COMPBIAS 112..141
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 240..254
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 255..269
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 476..491
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 516..532
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 209
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 593
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BRN9"
FT MOD_RES 596
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8BRN9"
FT VAR_SEQ 1..625
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025658"
FT VAR_SEQ 1..309
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025657"
FT VAR_SEQ 104..123
FT /note="ELLTELQEVLGVDEETEPLD -> GRDCAGDDFPSFAGFRSLCT (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025662"
FT VAR_SEQ 124..858
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025663"
FT VAR_SEQ 488..493
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025659"
FT VAR_SEQ 817..858
FT /note="VLDGRKPTGGKLEVKVRLREPLSGQDVQMVTENWLVLEPRGL -> MERFRR
FT SEKSHRGTQEKAASLFP (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025660"
FT VAR_SEQ 832..858
FT /note="VRLREPLSGQDVQMVTENWLVLEPRGL -> PMASTRRGVRPRLCRR (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025661"
FT VARIANT 35
FT /note="M -> T (in dbSNP:rs11555349)"
FT /id="VAR_062191"
SQ SEQUENCE 858 AA; 94224 MW; 338DC0A1ED792CDA CRC64;
MMPGPRPRKG PQARGQGVAA AKQMGLFMEF GPEDMLLGMD EAEDDEDLEA ELLALTGEAQ
TTGKKPAPKG QAPLPMAHIE KLAADCMRDV EEEEEEEGLE EDAELLTELQ EVLGVDEETE
PLDGDEVADP GGSEEENGLE DTEPPVQTAV LTASAPAAQA GASQGLHALL EERIHNYREA
AASAKEAGEA AKARRCERGL KTLESQLASV RRGRKINEDE IPPPVALGKR PLAPQEPANR
SPETDPPAPP ALESDNPSQP ETSLPGISAQ PVSDLDPDPR ALLSSRQREY KVAALSAKRA
GELDRARELM RIGKRFGAVL EALEKGQPVD LSAMPPAPED LKPQQASQAP TAPSVIPPAV
ERVQPVMAPD VPATPVAPTE SQTVLDALQQ RLNKYREAGI QARSGGDERK ARMHERIAKQ
YQDAIRAHRA GRKVNFAELP VPPGFPPIPG LESTMGVEED AVAATLAAAE KLASAEDSAP
ADKDEDEPPG HLQGEPPAQA PVAKKPARPT VPSSQRLPEP RASSSKESPS PSVREQLALL
EARKLQYQRA ALQAKRSQDL EQAKAYLRVA KWLEAQIIQA RSGRPVDLSK VPSPLTDEEG
DFILIHHEDL RLSQKAEEVY AQLQKMLLEQ QEKCLLFSKQ FMHQGNVAET TRFEKLAQDR
KKQLEILQLA QAQGLDPPTH HFELKTFQTV RIFSELNSTE MHLIIVRGMN LPAPPGVTPD
DLDAFVRFEF HYPNSDQAQK SKTAVVKNTN SPEFDQLFKL NINRNHRGFK RVIQSKGIKF
EIFHKGSFFR SDKLVGTAHL KLERLENECE IREIVEVLDG RKPTGGKLEV KVRLREPLSG
QDVQMVTENW LVLEPRGL
