CCD62_HUMAN
ID CCD62_HUMAN Reviewed; 684 AA.
AC Q6P9F0; A8K8V1; B3KUP3; Q6ZVF2; Q86VJ0; Q9BYZ5;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 13-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Coiled-coil domain-containing protein 62;
DE AltName: Full=Protein TSP-NY;
DE AltName: Full=Protein aaa;
GN Name=CCDC62;
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 2), AND TISSUE SPECIFICITY.
RA Shan Y.X., Yu L.;
RT "Cloning and characterization of a novel gene highly expressed in testis.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Cerebellum, and Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LYS-394.
RC TISSUE=Brain;
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 [MRNA] OF 176-684 (ISOFORM 2), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RA Li J.M., Chen R.H., Chen Q., Zhu H., Lin M., Zhou Z.M., Wang L.R.,
RA Zhou Y.D., Cheng L.J., Ying L.L., Zhu H., Sha J.H.;
RT "A novel testis specific protein (TSP-NY) gene from adult testis.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP INTERACTION WITH ESR1, AND MUTAGENESIS OF 637-LEU-LEU-638 AND
RP 653-LEU-LEU-654.
RX PubMed=18563714; DOI=10.1002/pros.20774;
RA Chen M., Ni J., Zhang Y., Muyan M., Yeh S.;
RT "ERAP75 functions as a coactivator to enhance estrogen receptor alpha
RT transactivation in prostate stromal cells.";
RL Prostate 68:1273-1282(2008).
RN [6]
RP FUNCTION, INTERACTION WITH ESR2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY,
RP AND MUTAGENESIS OF 637-LEU-LEU-638 AND 653-LEU-LEU-654.
RX PubMed=19126643; DOI=10.1093/carcin/bgn288;
RA Chen M., Ni J., Chang H.C., Lin C.Y., Muyan M., Yeh S.;
RT "CCDC62/ERAP75 functions as a coactivator to enhance estrogen receptor
RT beta-mediated transactivation and target gene expression in prostate cancer
RT cells.";
RL Carcinogenesis 30:841-850(2009).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=19165854; DOI=10.1002/ijc.24220;
RA Domae S., Nakamura Y., Nakamura Y., Uenaka A., Wada H., Nakata M., Oka M.,
RA Kishimoto K., Tsukamoto G., Yoshihama Y., Matsuoka J., Gochi A., Kohno S.,
RA Saika T., Sasaki A., Nakayama E., Ono T.;
RT "Identification of CCDC62-2 as a novel cancer/testis antigen and its
RT immunogenicity.";
RL Int. J. Cancer 124:2347-2352(2009).
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] GLU-31.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Nuclear receptor coactivator that can enhance preferentially
CC estrogen receptors ESR1 and ESR2 transactivation. Modulates also
CC progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors
CC transactivation, although at lower level; little effect on vitamin D
CC receptor/VDR. {ECO:0000269|PubMed:19126643}.
CC -!- SUBUNIT: Interacts with ESR1 and ESR2 in the presence of estradiol/E2.
CC The interaction with ESR2 recruits CCDC62 to ER target genes, including
CC cyclin-D1/CCND1 AP-1 promoter. {ECO:0000269|PubMed:18563714,
CC ECO:0000269|PubMed:19126643}.
CC -!- INTERACTION:
CC Q6P9F0; Q92731-1: ESR2; NbExp=6; IntAct=EBI-11176612, EBI-11176604;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19126643}. Nucleus
CC {ECO:0000269|PubMed:19126643}. Note=Mainly nuclear.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6P9F0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P9F0-2; Sequence=VSP_019329;
CC Name=3;
CC IsoId=Q6P9F0-3; Sequence=VSP_019327, VSP_019328;
CC -!- TISSUE SPECIFICITY: Highly expressed in adult testis. Expressed in both
CC prostate epithelial and stromal cells, with predominant expression in
CC epithelial cells (at protein level) (PubMed:19126643). Not detected in
CC prostate by RT-PCR (PubMed:19165854). Overexpressed in various cancers.
CC {ECO:0000269|PubMed:19126643, ECO:0000269|PubMed:19165854,
CC ECO:0000269|Ref.1, ECO:0000269|Ref.4}.
CC -!- DOMAIN: Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is
CC essential for the association with ESR1 and ESR2.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG49396.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY254201; AAP13075.1; -; mRNA.
DR EMBL; AK097663; BAG53505.1; -; mRNA.
DR EMBL; AK124633; BAC85909.1; -; mRNA.
DR EMBL; AK292466; BAF85155.1; -; mRNA.
DR EMBL; BC060796; AAH60796.1; -; mRNA.
DR EMBL; AY009105; AAG49396.1; ALT_INIT; mRNA.
DR CCDS; CCDS9238.1; -. [Q6P9F0-1]
DR RefSeq; NP_958843.2; NM_201435.4. [Q6P9F0-1]
DR RefSeq; XP_006719706.1; XM_006719643.1. [Q6P9F0-1]
DR RefSeq; XP_006719707.1; XM_006719644.1. [Q6P9F0-2]
DR AlphaFoldDB; Q6P9F0; -.
DR SMR; Q6P9F0; -.
DR BioGRID; 124180; 4.
DR IntAct; Q6P9F0; 4.
DR STRING; 9606.ENSP00000253079; -.
DR iPTMnet; Q6P9F0; -.
DR PhosphoSitePlus; Q6P9F0; -.
DR BioMuta; CCDC62; -.
DR DMDM; 108935965; -.
DR EPD; Q6P9F0; -.
DR jPOST; Q6P9F0; -.
DR MassIVE; Q6P9F0; -.
DR PaxDb; Q6P9F0; -.
DR PeptideAtlas; Q6P9F0; -.
DR PRIDE; Q6P9F0; -.
DR Antibodypedia; 52252; 70 antibodies from 17 providers.
DR DNASU; 84660; -.
DR Ensembl; ENST00000253079.11; ENSP00000253079.6; ENSG00000130783.14. [Q6P9F0-1]
DR Ensembl; ENST00000341952.8; ENSP00000341471.4; ENSG00000130783.14. [Q6P9F0-2]
DR Ensembl; ENST00000392441.8; ENSP00000376236.4; ENSG00000130783.14. [Q6P9F0-2]
DR Ensembl; ENST00000537566.5; ENSP00000445045.1; ENSG00000130783.14. [Q6P9F0-3]
DR GeneID; 84660; -.
DR KEGG; hsa:84660; -.
DR MANE-Select; ENST00000253079.11; ENSP00000253079.6; NM_201435.5; NP_958843.2.
DR UCSC; uc001udc.4; human. [Q6P9F0-1]
DR CTD; 84660; -.
DR DisGeNET; 84660; -.
DR GeneCards; CCDC62; -.
DR HGNC; HGNC:30723; CCDC62.
DR HPA; ENSG00000130783; Tissue enriched (testis).
DR MIM; 613481; gene.
DR neXtProt; NX_Q6P9F0; -.
DR OpenTargets; ENSG00000130783; -.
DR PharmGKB; PA143485414; -.
DR VEuPathDB; HostDB:ENSG00000130783; -.
DR eggNOG; ENOG502RHSF; Eukaryota.
DR GeneTree; ENSGT00400000022269; -.
DR HOGENOM; CLU_025504_0_0_1; -.
DR InParanoid; Q6P9F0; -.
DR OMA; PGHMSDA; -.
DR OrthoDB; 397822at2759; -.
DR PhylomeDB; Q6P9F0; -.
DR TreeFam; TF329149; -.
DR PathwayCommons; Q6P9F0; -.
DR SignaLink; Q6P9F0; -.
DR BioGRID-ORCS; 84660; 29 hits in 1074 CRISPR screens.
DR ChiTaRS; CCDC62; human.
DR GenomeRNAi; 84660; -.
DR Pharos; Q6P9F0; Tbio.
DR PRO; PR:Q6P9F0; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6P9F0; protein.
DR Bgee; ENSG00000130783; Expressed in sperm and 105 other tissues.
DR ExpressionAtlas; Q6P9F0; baseline and differential.
DR Genevisible; Q6P9F0; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:ParkinsonsUK-UCL.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030331; F:nuclear estrogen receptor binding; IPI:ParkinsonsUK-UCL.
DR GO; GO:0030374; F:nuclear receptor coactivator activity; IPI:ParkinsonsUK-UCL.
DR GO; GO:0001835; P:blastocyst hatching; IEA:Ensembl.
DR GO; GO:0071392; P:cellular response to estradiol stimulus; IDA:ParkinsonsUK-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:ParkinsonsUK-UCL.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..684
FT /note="Coiled-coil domain-containing protein 62"
FT /id="PRO_0000240247"
FT REGION 579..603
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 657..684
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 11..160
FT /evidence="ECO:0000255"
FT COILED 199..322
FT /evidence="ECO:0000255"
FT MOTIF 634..638
FT /note="LXXLL motif 1"
FT MOTIF 650..654
FT /note="LXXLL motif 2"
FT VAR_SEQ 1..239
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019327"
FT VAR_SEQ 240..257
FT /note="IIRLKQEKSCLHDELLFT -> MPNSSPKDPTTASGNGSK (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019328"
FT VAR_SEQ 668..684
FT /note="KSEVPEESAQKNTFVSY -> ISHLCGRQKADTNTE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.1,
FT ECO:0000303|Ref.4"
FT /id="VSP_019329"
FT VARIANT 31
FT /note="Q -> E (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035498"
FT VARIANT 141
FT /note="T -> M (in dbSNP:rs58131754)"
FT /id="VAR_061585"
FT VARIANT 394
FT /note="T -> K (in dbSNP:rs17855031)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026715"
FT MUTAGEN 637..638
FT /note="LL->AA: Abrogates interaction with ESR1 and ESR2."
FT /evidence="ECO:0000269|PubMed:18563714,
FT ECO:0000269|PubMed:19126643"
FT MUTAGEN 653..654
FT /note="LL->AA: No effect on interaction with ESR1 or ESR2."
FT /evidence="ECO:0000269|PubMed:18563714,
FT ECO:0000269|PubMed:19126643"
FT CONFLICT 486
FT /note="C -> R (in Ref. 2; BAF85155)"
FT /evidence="ECO:0000305"
FT CONFLICT 651
FT /note="S -> N (in Ref. 4; AAG49396)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 684 AA; 77748 MW; 071DCEC789E4DF60 CRC64;
MNPPAAFLAG RQNIGSEVEI STIEKQRKEL QLLIGELKDR DKELNDMVAV HQQQLLSWEE
DRQKVLTLEE RCSKLEGELH KRTEIIRSLT KKVKALESNQ MECQTALQKT QLQLQEMAQK
ATHSSLLSED LEARNETLSN TLVELSAQVG QLQAREQALT TMIKLKDKDI IEAVNHIADC
SGKFKMLEHA LRDAKMAETC IVKEKQDYKQ KLKALKIEVN KLKEDLNEKT TENNEQREEI
IRLKQEKSCL HDELLFTVER EKRKDELLNI AKSKQERTNS ELHNLRQIYV KQQSDLQFLN
FNVENSQELI QMYDSKMEES KALDSSRDMC LSDLENNHPK VDIKREKNQK SLFKDQKFEA
MLVQQNRSDK SSCDECKEKK QQIDTVFGEK SVITLSSIFT KDLVEKHNLP WSLGGKTQIE
PENKITLCKI HTKSPKCHGT GVQNEGKQPS ETPTLSDEKQ WHDVSVYLGL TNCPSSKHPE
KLDVECQDQM ERSEISCCQK NEACLGESGM CDSKCCHPSN FIIEAPGHMS DVEWMSIFKP
SKMQRIVRLK SGCTCSESIC GTQHDSPASE LIAIQDSHSL GSSKSALRED ETESSSNKKN
SPTSLLIYKD APAFNEKASI VLPSQDDFSP TSKLQRLLAE SRQMVTDLEL STLLPISHEN
LTGSATNKSE VPEESAQKNT FVSY
