CC110_HUMAN
ID CC110_HUMAN Reviewed; 833 AA.
AC Q8TBZ0; Q86YI9; Q8N7W0;
DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Coiled-coil domain-containing protein 110;
DE AltName: Full=Cancer/testis antigen 52;
DE Short=CT52;
DE AltName: Full=Cancer/testis antigen KM-HN-1;
GN Name=CCDC110; Synonyms=KMHN1;
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 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=15447989; DOI=10.1158/1078-0432.ccr-04-0475;
RA Monji M., Nakatsura T., Senju S., Yoshitake Y., Sawatsubashi M.,
RA Shinohara M., Kageshita T., Ono T., Inokuchi A., Nishimura Y.;
RT "Identification of a novel human cancer/testis antigen, KM-HN-1, recognized
RT by cellular and humoral immune responses.";
RL Clin. Cancer Res. 10:6047-6057(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-596.
RC TISSUE=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).
CC -!- INTERACTION:
CC Q8TBZ0; Q8TB45: DEPTOR; NbExp=3; IntAct=EBI-2837012, EBI-2359040;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15447989}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TBZ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBZ0-2; Sequence=VSP_020365;
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis. Also expressed in
CC tumors of different origins. {ECO:0000269|PubMed:15447989}.
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DR EMBL; AB080722; BAC81776.1; -; mRNA.
DR EMBL; BC028419; AAH28419.1; -; mRNA.
DR EMBL; BC038515; AAH38515.1; -; mRNA.
DR EMBL; AK097605; BAC05116.1; -; mRNA.
DR CCDS; CCDS3843.1; -. [Q8TBZ0-1]
DR CCDS; CCDS47170.1; -. [Q8TBZ0-2]
DR RefSeq; NP_001138883.1; NM_001145411.1. [Q8TBZ0-2]
DR RefSeq; NP_689988.1; NM_152775.3. [Q8TBZ0-1]
DR AlphaFoldDB; Q8TBZ0; -.
DR SMR; Q8TBZ0; -.
DR BioGRID; 129157; 7.
DR IntAct; Q8TBZ0; 7.
DR STRING; 9606.ENSP00000306776; -.
DR iPTMnet; Q8TBZ0; -.
DR PhosphoSitePlus; Q8TBZ0; -.
DR BioMuta; CCDC110; -.
DR DMDM; 74730531; -.
DR EPD; Q8TBZ0; -.
DR jPOST; Q8TBZ0; -.
DR MassIVE; Q8TBZ0; -.
DR PaxDb; Q8TBZ0; -.
DR PeptideAtlas; Q8TBZ0; -.
DR PRIDE; Q8TBZ0; -.
DR Antibodypedia; 45796; 64 antibodies from 16 providers.
DR DNASU; 256309; -.
DR Ensembl; ENST00000307588.8; ENSP00000306776.3; ENSG00000168491.10. [Q8TBZ0-1]
DR Ensembl; ENST00000393540.7; ENSP00000377172.3; ENSG00000168491.10. [Q8TBZ0-2]
DR GeneID; 256309; -.
DR KEGG; hsa:256309; -.
DR MANE-Select; ENST00000307588.8; ENSP00000306776.3; NM_152775.4; NP_689988.1.
DR UCSC; uc003ixu.5; human. [Q8TBZ0-1]
DR CTD; 256309; -.
DR GeneCards; CCDC110; -.
DR HGNC; HGNC:28504; CCDC110.
DR HPA; ENSG00000168491; Group enriched (pancreas, testis).
DR MIM; 609488; gene.
DR neXtProt; NX_Q8TBZ0; -.
DR OpenTargets; ENSG00000168491; -.
DR PharmGKB; PA162381283; -.
DR VEuPathDB; HostDB:ENSG00000168491; -.
DR eggNOG; ENOG502QR3F; Eukaryota.
DR GeneTree; ENSGT01040000240547; -.
DR HOGENOM; CLU_018125_0_0_1; -.
DR InParanoid; Q8TBZ0; -.
DR OMA; CQIHFKD; -.
DR OrthoDB; 972885at2759; -.
DR PhylomeDB; Q8TBZ0; -.
DR TreeFam; TF335739; -.
DR PathwayCommons; Q8TBZ0; -.
DR SignaLink; Q8TBZ0; -.
DR BioGRID-ORCS; 256309; 18 hits in 1070 CRISPR screens.
DR GenomeRNAi; 256309; -.
DR Pharos; Q8TBZ0; Tbio.
DR PRO; PR:Q8TBZ0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8TBZ0; protein.
DR Bgee; ENSG00000168491; Expressed in sperm and 102 other tissues.
DR ExpressionAtlas; Q8TBZ0; baseline and differential.
DR Genevisible; Q8TBZ0; HS.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..833
FT /note="Coiled-coil domain-containing protein 110"
FT /id="PRO_0000249076"
FT COILED 431..778
FT /evidence="ECO:0000255"
FT MOD_RES 609
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3V125"
FT VAR_SEQ 80..116
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020365"
FT VARIANT 209
FT /note="P -> Q (in dbSNP:rs7699687)"
FT /id="VAR_050729"
FT VARIANT 299
FT /note="L -> M (in dbSNP:rs7698680)"
FT /id="VAR_050730"
FT VARIANT 382
FT /note="L -> M (in dbSNP:rs9999097)"
FT /id="VAR_050731"
FT VARIANT 409
FT /note="S -> F (in dbSNP:rs11132306)"
FT /id="VAR_050732"
FT VARIANT 500
FT /note="Y -> D (in dbSNP:rs59319722)"
FT /id="VAR_061577"
FT VARIANT 614
FT /note="I -> M (in dbSNP:rs35596415)"
FT /id="VAR_050733"
FT VARIANT 669
FT /note="Q -> R (in dbSNP:rs6827370)"
FT /id="VAR_050734"
FT VARIANT 817
FT /note="S -> L (in dbSNP:rs9683564)"
FT /id="VAR_050735"
FT VARIANT 819
FT /note="L -> M (in dbSNP:rs34800518)"
FT /id="VAR_050736"
SQ SEQUENCE 833 AA; 96726 MW; AE76D1328CBED1BA CRC64;
MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI QPQSALKVLQ
QQLESFQALR MQTLQNVSMV QSEISEILNK SIIEVENPQF SSEKNLVFGT RIEKDLPTEN
QEENLSMEKS HHFEDSKTLH SVEEKLSGDS VNSLPQSVNV PSQIHSEDTL TLRTSTDNLS
SNIIIHPSEN SDILKNYNNF YRFLPTAPPN VMSQADTVIL DKSKITVPFL KHGFCENLDD
ICHSIKQMKE ELQKSHDGEV ALTNELQTLQ TDPDVHRNGK YDMSPIHQDK MNFIKEENLD
GNLNEDIKSK RISELEALVK KLLPFRETVS KFHVHFCRKC KKLSKSEMHR GKKNEKNNKE
IPITGKNITD LKFHSRVPRY TLSFLDQTKH EMKDKERQPF LVKQGSIISE NEKTSKVNSV
TEQCVAKIQY LQNYLKESVQ IQKKVMELES ENLNLKSKMK PLIFTTQSLI QKVETYEKQL
KNLVEEKSTI QSKLSKTEEY SKECLKEFKK IISKYNVLQG QNKTLEEKNI QLSLEKQQMM
EALDQLKSKE HKTQSDMAIV NNENNRMSIE MEAMKTNILL IQDEKEMLEK KTHQLLKEKS
SLGNELKESQ LEIIQLKEKE RLAKTEQETL LQIIETVKDE KLNLETTLQE STAARQIMER
EIENIQTYQS TAEENFLQEI KNAKSEASIY KNSLSEIGKE CEMLSKMVME TKTDNQILKE
ELKKHSQENI KFENSISRLT EDKILLENYV RSIENERDTL EFEMRHLQRE YLSLSDKICN
QHNDPSKTTY ISRREKFHFD NYTHEDTSSP QSRPLASDLK GYFKVKDRTL KHH