CC113_HUMAN
ID CC113_HUMAN Reviewed; 377 AA.
AC Q9H0I3; B2RAQ7; B4DR20; Q9NZX2;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Coiled-coil domain-containing protein 113;
GN Name=CCDC113; ORFNames=HSPC065;
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 1).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [8]
RP SUBCELLULAR LOCATION, INTERACTION WITH HAP1 AND PCM1, AND FUNCTION.
RX PubMed=25074808; DOI=10.1242/jcs.157008;
RA Firat-Karalar E.N., Sante J., Elliott S., Stearns T.;
RT "Proteomic analysis of mammalian sperm cells identifies new components of
RT the centrosome.";
RL J. Cell Sci. 127:4128-4133(2014).
CC -!- FUNCTION: Component of centriolar satellites contributing to primary
CC cilium formation. {ECO:0000269|PubMed:25074808}.
CC -!- SUBUNIT: Interacts with HAP1 and PCM1. {ECO:0000269|PubMed:25074808}.
CC -!- INTERACTION:
CC Q9H0I3; O75031: HSF2BP; NbExp=3; IntAct=EBI-715690, EBI-7116203;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome, centriolar satellite {ECO:0000269|PubMed:25074808}.
CC Note=Colocalized with HAP1 at centriolar satellites. Centriolar
CC satellite localization requires PCM1. {ECO:0000269|PubMed:25074808}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H0I3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0I3-2; Sequence=VSP_042753;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF29037.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF161550; AAF29037.1; ALT_FRAME; mRNA.
DR EMBL; AL136785; CAB66719.1; -; mRNA.
DR EMBL; CR533506; CAG38537.1; -; mRNA.
DR EMBL; AK299066; BAG61132.1; -; mRNA.
DR EMBL; AK314300; BAG36954.1; -; mRNA.
DR EMBL; AC009107; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471092; EAW82970.1; -; Genomic_DNA.
DR EMBL; BC126445; AAI26446.1; -; mRNA.
DR EMBL; BC126447; AAI26448.1; -; mRNA.
DR CCDS; CCDS10795.1; -. [Q9H0I3-1]
DR CCDS; CCDS45497.1; -. [Q9H0I3-2]
DR RefSeq; NP_001135774.1; NM_001142302.1. [Q9H0I3-2]
DR RefSeq; NP_054876.2; NM_014157.3. [Q9H0I3-1]
DR AlphaFoldDB; Q9H0I3; -.
DR SMR; Q9H0I3; -.
DR BioGRID; 118843; 19.
DR IntAct; Q9H0I3; 11.
DR MINT; Q9H0I3; -.
DR STRING; 9606.ENSP00000219299; -.
DR iPTMnet; Q9H0I3; -.
DR PhosphoSitePlus; Q9H0I3; -.
DR BioMuta; CCDC113; -.
DR DMDM; 74717983; -.
DR jPOST; Q9H0I3; -.
DR MassIVE; Q9H0I3; -.
DR PaxDb; Q9H0I3; -.
DR PeptideAtlas; Q9H0I3; -.
DR PRIDE; Q9H0I3; -.
DR Antibodypedia; 54998; 86 antibodies from 15 providers.
DR DNASU; 29070; -.
DR Ensembl; ENST00000219299.8; ENSP00000219299.4; ENSG00000103021.10. [Q9H0I3-1]
DR Ensembl; ENST00000443128.6; ENSP00000402588.2; ENSG00000103021.10. [Q9H0I3-2]
DR GeneID; 29070; -.
DR KEGG; hsa:29070; -.
DR MANE-Select; ENST00000219299.8; ENSP00000219299.4; NM_014157.4; NP_054876.2.
DR UCSC; uc002ene.4; human. [Q9H0I3-1]
DR CTD; 29070; -.
DR DisGeNET; 29070; -.
DR GeneCards; CCDC113; -.
DR HGNC; HGNC:25002; CCDC113.
DR HPA; ENSG00000103021; Tissue enhanced (fallopian tube, testis).
DR MIM; 616070; gene.
DR neXtProt; NX_Q9H0I3; -.
DR OpenTargets; ENSG00000103021; -.
DR PharmGKB; PA145149245; -.
DR VEuPathDB; HostDB:ENSG00000103021; -.
DR eggNOG; ENOG502QU7J; Eukaryota.
DR GeneTree; ENSGT00940000154521; -.
DR HOGENOM; CLU_046867_1_0_1; -.
DR InParanoid; Q9H0I3; -.
DR OMA; TCQQHRA; -.
DR OrthoDB; 972324at2759; -.
DR PhylomeDB; Q9H0I3; -.
DR TreeFam; TF328830; -.
DR PathwayCommons; Q9H0I3; -.
DR SignaLink; Q9H0I3; -.
DR BioGRID-ORCS; 29070; 9 hits in 1080 CRISPR screens.
DR ChiTaRS; CCDC113; human.
DR GeneWiki; CCDC113; -.
DR GenomeRNAi; 29070; -.
DR Pharos; Q9H0I3; Tdark.
DR PRO; PR:Q9H0I3; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9H0I3; protein.
DR Bgee; ENSG00000103021; Expressed in bronchial epithelial cell and 175 other tissues.
DR ExpressionAtlas; Q9H0I3; baseline and differential.
DR Genevisible; Q9H0I3; HS.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0034451; C:centriolar satellite; IMP:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR InterPro; IPR025254; DUF4201.
DR Pfam; PF13870; DUF4201; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cilium biogenesis/degradation; Coiled coil;
KW Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..377
FT /note="Coiled-coil domain-containing protein 113"
FT /id="PRO_0000279399"
FT COILED 95..243
FT /evidence="ECO:0000255"
FT COILED 280..354
FT /evidence="ECO:0000255"
FT VAR_SEQ 77..130
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042753"
FT VARIANT 4
FT /note="D -> E (in dbSNP:rs8043587)"
FT /id="VAR_030880"
FT VARIANT 6
FT /note="S -> T (in dbSNP:rs8043590)"
FT /id="VAR_030881"
FT CONFLICT 2
FT /note="T -> A (in Ref. 1; AAF29037)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 377 AA; 44220 MW; 6375CDF98733E33B CRC64;
MTDDESESVL SDSHEGSELE LPVIQLCGLV EELSYVNSAL KTETEMFEKY YAKLEPRDQR
PPRLSEIKIS AADYAQFRGR RRSKSRTGMD RGVGLTADQK LELVQKEVAD MKDDLRHTRA
NAERDLQHHE AIIEEAEIRW SEVSREVHEF EKDILKAISK KKGSILATQK VMKYIEDMNR
RRDNMKEKLR LKNVSLKVQR KKMLLQLRQK EEVSEALHDV DFQQLKIENA QFLETIEARN
QELTQLKLSS GNTLQVLNAY KSKLHKAMEI YLNLDKEILL RKELLEKIEK ETLQVEEDRA
KAEAVNKRLR KQLAEFRAPQ VMTYVREKIL NADLEKSIRM WERKVEIAEM SLKGHRKAWN
RMKITNEQLQ ADYLAGK
