CC117_HUMAN
ID CC117_HUMAN Reviewed; 279 AA.
AC Q8IWD4; A8K0F1; B7Z2V1; B7Z860; Q6ICA7; Q8N278;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Coiled-coil domain-containing protein 117 {ECO:0000305};
GN Name=CCDC117 {ECO:0000312|HGNC:HGNC:26599};
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 2).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Brain, Cerebellum, Testis, and Tongue;
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 GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis, Testis carcinoma, and Uterine leiomyoma;
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-53, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
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 [7]
RP INTERACTION WITH CIAO2B AND MMS19, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=30742009; DOI=10.1038/s41598-019-39078-5;
RA Horton A.J., Brooker J., Streitfeld W.S., Flessa M.E., Pillai B.,
RA Simpson R., Clark C.D., Gooz M.B., Sutton K.K., Foley A.C., Lee K.H.;
RT "Nkx2-5 Second Heart Field Target Gene Ccdc117 Regulates DNA Metabolism and
RT Proliferation.";
RL Sci. Rep. 9:1738-1738(2019).
CC -!- FUNCTION: Facilitates DNA repair, cell cycle progression, and cell
CC proliferation through its interaction with CIAO2B.
CC {ECO:0000269|PubMed:30742009}.
CC -!- SUBUNIT: Interacts with CIAO2B; the interaction is direct
CC (PubMed:30742009). Interacts with MMS19; the interaction is indirect
CC (PubMed:30742009). {ECO:0000269|PubMed:30742009}.
CC -!- INTERACTION:
CC Q8IWD4; P07900: HSP90AA1; NbExp=5; IntAct=EBI-3387963, EBI-296047;
CC Q8IWD4; P31948: STIP1; NbExp=2; IntAct=EBI-3387963, EBI-1054052;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle
CC {ECO:0000269|PubMed:30742009}. Nucleus {ECO:0000269|PubMed:30742009}.
CC Note=Mitotic spindle. {ECO:0000269|PubMed:30742009}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8IWD4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IWD4-2; Sequence=VSP_021185;
CC Name=3;
CC IsoId=Q8IWD4-3; Sequence=VSP_054912;
CC Name=4;
CC IsoId=Q8IWD4-4; Sequence=VSP_054913;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CR456461; CAG30347.1; -; mRNA.
DR EMBL; AK091133; BAC03592.1; -; mRNA.
DR EMBL; AK289516; BAF82205.1; -; mRNA.
DR EMBL; AK295140; BAH11987.1; -; mRNA.
DR EMBL; AK302925; BAH13846.1; -; mRNA.
DR EMBL; AL023494; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z93930; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471095; EAW59761.1; -; Genomic_DNA.
DR EMBL; BC040488; AAH40488.1; -; mRNA.
DR EMBL; BC053874; AAH53874.1; -; mRNA.
DR EMBL; BC065549; AAH65549.1; -; mRNA.
DR CCDS; CCDS13846.1; -. [Q8IWD4-1]
DR CCDS; CCDS63435.1; -. [Q8IWD4-4]
DR CCDS; CCDS63436.1; -. [Q8IWD4-3]
DR RefSeq; NP_001271192.1; NM_001284263.1. [Q8IWD4-3]
DR RefSeq; NP_001271193.1; NM_001284264.1. [Q8IWD4-4]
DR RefSeq; NP_001271194.1; NM_001284265.1.
DR RefSeq; NP_775781.1; NM_173510.3. [Q8IWD4-1]
DR AlphaFoldDB; Q8IWD4; -.
DR BioGRID; 127277; 24.
DR IntAct; Q8IWD4; 12.
DR STRING; 9606.ENSP00000249064; -.
DR GlyGen; Q8IWD4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IWD4; -.
DR PhosphoSitePlus; Q8IWD4; -.
DR BioMuta; CCDC117; -.
DR DMDM; 74759628; -.
DR EPD; Q8IWD4; -.
DR jPOST; Q8IWD4; -.
DR MassIVE; Q8IWD4; -.
DR MaxQB; Q8IWD4; -.
DR PaxDb; Q8IWD4; -.
DR PeptideAtlas; Q8IWD4; -.
DR PRIDE; Q8IWD4; -.
DR ProteomicsDB; 6467; -.
DR ProteomicsDB; 6927; -.
DR ProteomicsDB; 70845; -. [Q8IWD4-1]
DR ProteomicsDB; 70846; -. [Q8IWD4-2]
DR Antibodypedia; 226; 119 antibodies from 18 providers.
DR DNASU; 150275; -.
DR Ensembl; ENST00000249064.9; ENSP00000249064.4; ENSG00000159873.10. [Q8IWD4-1]
DR Ensembl; ENST00000421503.6; ENSP00000387827.2; ENSG00000159873.10. [Q8IWD4-4]
DR Ensembl; ENST00000448492.6; ENSP00000389478.2; ENSG00000159873.10. [Q8IWD4-3]
DR GeneID; 150275; -.
DR KEGG; hsa:150275; -.
DR MANE-Select; ENST00000249064.9; ENSP00000249064.4; NM_173510.4; NP_775781.1.
DR UCSC; uc003aeb.5; human. [Q8IWD4-1]
DR CTD; 150275; -.
DR GeneCards; CCDC117; -.
DR HGNC; HGNC:26599; CCDC117.
DR HPA; ENSG00000159873; Low tissue specificity.
DR neXtProt; NX_Q8IWD4; -.
DR OpenTargets; ENSG00000159873; -.
DR PharmGKB; PA145149315; -.
DR VEuPathDB; HostDB:ENSG00000159873; -.
DR eggNOG; ENOG502S42Q; Eukaryota.
DR GeneTree; ENSGT00390000005772; -.
DR HOGENOM; CLU_083045_0_0_1; -.
DR InParanoid; Q8IWD4; -.
DR OMA; PPDDPFC; -.
DR PhylomeDB; Q8IWD4; -.
DR TreeFam; TF335674; -.
DR PathwayCommons; Q8IWD4; -.
DR SignaLink; Q8IWD4; -.
DR BioGRID-ORCS; 150275; 27 hits in 1083 CRISPR screens.
DR ChiTaRS; CCDC117; human.
DR GenomeRNAi; 150275; -.
DR Pharos; Q8IWD4; Tdark.
DR PRO; PR:Q8IWD4; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q8IWD4; protein.
DR Bgee; ENSG00000159873; Expressed in buccal mucosa cell and 193 other tissues.
DR ExpressionAtlas; Q8IWD4; baseline and differential.
DR Genevisible; Q8IWD4; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0072686; C:mitotic spindle; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:UniProtKB.
DR GO; GO:0045739; P:positive regulation of DNA repair; IMP:UniProtKB.
DR InterPro; IPR031630; CCDC117.
DR PANTHER; PTHR36128; PTHR36128; 1.
DR Pfam; PF15810; CCDC117; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton; Methylation;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..279
FT /note="Coiled-coil domain-containing protein 117"
FT /id="PRO_0000254138"
FT REGION 1..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 217..279
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 141..168
FT /evidence="ECO:0000255"
FT COMPBIAS 221..237
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 48
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q6PB51"
FT MOD_RES 53
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 12..120
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15461802"
FT /id="VSP_021185"
FT VAR_SEQ 63..80
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054912"
FT VAR_SEQ 80..155
FT /note="DCPVRKKRITEAELCAGPNDWILCAHQDVEGHGVNPSVSGLSIPGILDVICE
FT EMDQTTGEPQCEVARRKLQEIEDR -> E (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054913"
FT VARIANT 147
FT /note="R -> S (in dbSNP:rs13057011)"
FT /id="VAR_028823"
FT VARIANT 272
FT /note="S -> N (in dbSNP:rs9613680)"
FT /id="VAR_028824"
FT CONFLICT 102
FT /note="L -> P (in Ref. 2; BAC03592)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 279 AA; 30541 MW; 97D5FBB76AE5ABFE CRC64;
MAALGRPFSG LPLSGGSDFL QPPQPAFPGR AFPPGADGAE LAPRPGPRAV PSSPAGSAAR
GRVSVHCKKK HKREEEEDDD CPVRKKRITE AELCAGPNDW ILCAHQDVEG HGVNPSVSGL
SIPGILDVIC EEMDQTTGEP QCEVARRKLQ EIEDRIIDED EEVEADRNVN HLPSLVLSDT
MKTGLKREFD EVFTKKMIES MSRPSMELVL WKPLPELLSD KPKPSSNTKN YTGESQAKHV
AAGTAFPQRT ELFSEPRPTG MSLYNSLETA TSTEEEMEL
