CCD15_HUMAN
ID CCD15_HUMAN Reviewed; 951 AA.
AC Q0P6D6; Q9H8U7;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Coiled-coil domain-containing protein 15;
GN Name=CCDC15;
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-796.
RC TISSUE=Lymph;
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 1-465.
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 [4]
RP VARIANT CYS-166.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH18540.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AP003501; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018540; AAH18540.1; ALT_SEQ; mRNA.
DR EMBL; AK023277; BAB14504.1; -; mRNA.
DR CCDS; CCDS44756.1; -.
DR RefSeq; NP_079280.2; NM_025004.2.
DR AlphaFoldDB; Q0P6D6; -.
DR SMR; Q0P6D6; -.
DR BioGRID; 123101; 10.
DR IntAct; Q0P6D6; 3.
DR MINT; Q0P6D6; -.
DR STRING; 9606.ENSP00000341684; -.
DR iPTMnet; Q0P6D6; -.
DR PhosphoSitePlus; Q0P6D6; -.
DR BioMuta; CCDC15; -.
DR DMDM; 160017591; -.
DR EPD; Q0P6D6; -.
DR jPOST; Q0P6D6; -.
DR MassIVE; Q0P6D6; -.
DR MaxQB; Q0P6D6; -.
DR PaxDb; Q0P6D6; -.
DR PeptideAtlas; Q0P6D6; -.
DR PRIDE; Q0P6D6; -.
DR ProteomicsDB; 58778; -.
DR Antibodypedia; 50022; 72 antibodies from 15 providers.
DR DNASU; 80071; -.
DR Ensembl; ENST00000344762.6; ENSP00000341684.5; ENSG00000149548.15.
DR GeneID; 80071; -.
DR KEGG; hsa:80071; -.
DR MANE-Select; ENST00000344762.6; ENSP00000341684.5; NM_025004.3; NP_079280.2.
DR UCSC; uc001qbm.6; human.
DR CTD; 80071; -.
DR GeneCards; CCDC15; -.
DR HGNC; HGNC:25798; CCDC15.
DR HPA; ENSG00000149548; Tissue enhanced (testis).
DR neXtProt; NX_Q0P6D6; -.
DR OpenTargets; ENSG00000149548; -.
DR PharmGKB; PA142672175; -.
DR VEuPathDB; HostDB:ENSG00000149548; -.
DR eggNOG; ENOG502QU35; Eukaryota.
DR GeneTree; ENSGT00500000044966; -.
DR InParanoid; Q0P6D6; -.
DR OMA; DQDDIRN; -.
DR OrthoDB; 489797at2759; -.
DR PhylomeDB; Q0P6D6; -.
DR TreeFam; TF329047; -.
DR PathwayCommons; Q0P6D6; -.
DR SignaLink; Q0P6D6; -.
DR BioGRID-ORCS; 80071; 17 hits in 1082 CRISPR screens.
DR GenomeRNAi; 80071; -.
DR Pharos; Q0P6D6; Tdark.
DR PRO; PR:Q0P6D6; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q0P6D6; protein.
DR Bgee; ENSG00000149548; Expressed in oocyte and 120 other tissues.
DR ExpressionAtlas; Q0P6D6; baseline and differential.
DR Genevisible; Q0P6D6; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR InterPro; IPR037693; CCDC15.
DR PANTHER; PTHR14817; PTHR14817; 2.
PE 2: Evidence at transcript level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..951
FT /note="Coiled-coil domain-containing protein 15"
FT /id="PRO_0000307715"
FT COILED 64..89
FT /evidence="ECO:0000255"
FT COILED 154..193
FT /evidence="ECO:0000255"
FT COILED 782..813
FT /evidence="ECO:0000255"
FT COILED 839..874
FT /evidence="ECO:0000255"
FT VARIANT 166
FT /note="F -> C"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069401"
FT VARIANT 529
FT /note="G -> D (in dbSNP:rs4936966)"
FT /id="VAR_050748"
FT VARIANT 813
FT /note="C -> R (in dbSNP:rs7107487)"
FT /id="VAR_050749"
FT CONFLICT 385
FT /note="K -> R (in Ref. 3; BAB14504)"
FT /evidence="ECO:0000305"
FT CONFLICT 450
FT /note="L -> P (in Ref. 3; BAB14504)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 951 AA; 110484 MW; D9E832C87CA5E580 CRC64;
MLGSMARKKP RNTSRLPLAL NPLKSKDVLA VLAERNEAIV PVGAWVEPAS PGSSEIPAYT
SAYLIEEELK EQLRKKQEAL KHFQKQVKYR VNQQIRLRKK QQLQKSYERA QKEGSIAMQS
SATHLTSKRT SVFPNNLNVA IGSSRLPPSL MPGDGIEDEE NQNELFQQQA QALSETMKQA
RHRLASFKTV IKKKGSVFPD DGRKSFLTRE EVLSRKPAST GINTGIRGEL PIKVHQGLLA
AVPYQNYMEN QELDYEEPDY EESSSLVTDE KGKEDLFGRG QQDQQAIHSE DKNKPFSRVQ
KVKFKNPLFV LMEEEEQKQL HFEGLQDILP EAQDYFLEAQ GDLLETQGDL TGIQSVKPDT
QAVEMKVQVT EPEGQAIEPE GQPIKTETQG IMLKAQSIEL EEGSIVLKTQ DFLPTNQALL
TKNQDVLLKD HCVLPKDQSI LLKYQDQDFL PRDQHVLHKD QDILPKYQDQ NFLPKDQNFL
SRDQHVLPKD QDILPKYQDQ NFLPKDQNFL SRDQHVLPKD QNILPKYQGQ DFLPKDQDFL
SRDQHVLPKD WNILPKCQDQ DFLPRDQGVL PKDQNILPIC QDQDFLPRDQ GYLPKDQNIL
PICQDRDFLP RDLHVLSNDQ NILPKCQDQD FLPKYQKVHF KEPYSDMTDE KGREDFSLAD
YQCLPPKSQD QDDIKNQQPA SFMREERVRE ELPLDYHQYV VPKIQDQDSP REQNKHIKLP
SSFEKWEIAR GNTPGVPLAY DRYQSGLSTE FQAPLAFQSD VDKEEDKKER QKQYLRHRRL
FMDIEREQVK EQQRQKEQKK KIEKIKKKRE QECYAAEQRI LRMNFHEDPY SGEKLSEILA
QLQLQEIKGT REKQQREKEY LRYVEALRAQ IQEKMQLYNI TLPPLCCCGP DFWDAHPDTC
ANNCIFYKNH RAYTRALHSF INSCDVPGGN STLRVAIHNF ASAHRRTLKN L
