ID CCDC7_HUMAN Reviewed; 1385 AA. AC Q96M83; B0QZ71; Q08AN7; Q5VW55; Q8IVQ0; Q8N7T7; Q8NEQ0; Q9H943; DT 07-JUN-2004, integrated into UniProtKB/Swiss-Prot. DT 08-JUN-2016, sequence version 3. DT 27-MAR-2024, entry version 150. DE RecName: Full=Coiled-coil domain-containing protein 7; DE AltName: Full=Protein BIOT2; GN Name=CCDC7; Synonyms=BIOT2, C10orf68; 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), NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 418-1385 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE RP SCALE MRNA] OF 887-1385 (ISOFORM 1), AND VARIANTS ALA-1117 AND ILE-1364. RC TISSUE=Teratocarcinoma, 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 [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15164054; DOI=10.1038/nature02462; RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.; RT "The DNA sequence and comparative analysis of human chromosome 10."; RL Nature 429:375-381(2004). RN [3] 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 456-1385 (ISOFORM 5). RC TISSUE=Brain, and 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 [5] RP TISSUE SPECIFICITY. RX PubMed=21109960; RA Shen Y.M., He X., Deng H.X., Xie Y.P., Wang C.T., Wei Y.Q., Zhao X.; RT "Overexpression of the hBiot2 gene is associated with development of human RT cervical cancer."; RL Oncol. Rep. 25:75-80(2011). CC -!- FUNCTION: May play a role in tumorigenesis. CC {ECO:0000250|UniProtKB:Q9D541}. CC -!- INTERACTION: CC Q96M83-3; P42858: HTT; NbExp=18; IntAct=EBI-18211613, EBI-466029; CC Q96M83-3; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-18211613, EBI-398874; CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; CC IsoId=Q96M83-1; Sequence=Displayed; CC Name=2; CC IsoId=Q96M83-2; Sequence=VSP_010525, VSP_010526; CC Name=3; CC IsoId=Q96M83-3; Sequence=VSP_058369, VSP_058370; CC Name=4; CC IsoId=Q96M83-4; Sequence=VSP_058367, VSP_058368; CC Name=5; CC IsoId=Q96M83-5; Sequence=VSP_058366, VSP_058371; CC -!- TISSUE SPECIFICITY: Expressed in epithelium of normal cervix and CC cervical cancer. Overexpressed in early and interim cervical cancer. CC {ECO:0000269|PubMed:21109960}. CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA CC decay. {ECO:0000305}. CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA CC decay. {ECO:0000305}. CC -!- MISCELLANEOUS: [Isoform 5]: May be produced at very low levels due to a CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA CC decay. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAI25092.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; CC Sequence=BAB14400.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; CC Sequence=BAC05140.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; 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; AK023093; BAB14400.1; ALT_SEQ; mRNA. DR EMBL; AK057324; BAB71426.1; -; mRNA. DR EMBL; AK097668; BAC05140.1; ALT_INIT; mRNA. DR EMBL; AL354750; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL356053; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL365203; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL391839; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL591850; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471072; EAW85966.1; -; Genomic_DNA. DR EMBL; BC022020; AAH22020.2; -; mRNA. DR EMBL; BC042672; AAH42672.1; -; mRNA. DR EMBL; BC125091; AAI25092.1; ALT_SEQ; mRNA. DR CCDS; CCDS7173.1; -. [Q96M83-3] DR CCDS; CCDS86081.1; -. [Q96M83-1] DR RefSeq; NP_001021554.1; NM_001026383.2. [Q96M83-3] DR RefSeq; NP_001308044.1; NM_001321115.1. [Q96M83-1] DR RefSeq; NP_659460.3; NM_145023.5. [Q96M83-3] DR RefSeq; XP_011517965.1; XM_011519663.1. DR AlphaFoldDB; Q96M83; -. DR SMR; Q96M83; -. DR BioGRID; 122854; 14. DR IntAct; Q96M83; 9. DR STRING; 9606.ENSP00000491655; -. DR GlyGen; Q96M83; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q96M83; -. DR PhosphoSitePlus; Q96M83; -. DR BioMuta; CCDC7; -. DR DMDM; 48428133; -. DR jPOST; Q96M83; -. DR MassIVE; Q96M83; -. DR MaxQB; Q96M83; -. DR PaxDb; 9606-ENSP00000355078; -. DR PeptideAtlas; Q96M83; -. DR ProteomicsDB; 77306; -. [Q96M83-1] DR ProteomicsDB; 77307; -. [Q96M83-2] DR ProteomicsDB; 81280; -. DR ProteomicsDB; 81281; -. DR ProteomicsDB; 81282; -. DR Antibodypedia; 80107; 84 antibodies from 21 providers. DR DNASU; 221016; -. DR Ensembl; ENST00000277657.12; ENSP00000277657.6; ENSG00000216937.14. [Q96M83-3] DR Ensembl; ENST00000362006.11; ENSP00000355078.5; ENSG00000216937.14. [Q96M83-3] DR Ensembl; ENST00000476558.7; ENSP00000436435.3; ENSG00000216937.14. [Q96M83-2] DR Ensembl; ENST00000639629.2; ENSP00000491655.1; ENSG00000216937.14. [Q96M83-1] DR GeneID; 79741; -. DR KEGG; hsa:79741; -. DR MANE-Select; ENST00000639629.2; ENSP00000491655.1; NM_001395015.1; NP_001381944.1. DR UCSC; uc001iwj.5; human. [Q96M83-1] DR AGR; HGNC:26533; -. DR DisGeNET; 79741; -. DR GeneCards; CCDC7; -. DR HGNC; HGNC:26533; CCDC7. DR HPA; ENSG00000216937; Tissue enriched (testis). DR MIM; 619444; gene. DR neXtProt; NX_Q96M83; -. DR OpenTargets; ENSG00000216937; -. DR PharmGKB; PA134879457; -. DR VEuPathDB; HostDB:ENSG00000216937; -. DR eggNOG; ENOG502S48H; Eukaryota. DR GeneTree; ENSGT00940000164808; -. DR HOGENOM; CLU_1036434_0_0_1; -. DR InParanoid; Q96M83; -. DR OMA; TRNESFH; -. DR OrthoDB; 4340199at2759; -. DR TreeFam; TF337205; -. DR TreeFam; TF351892; -. DR PathwayCommons; Q96M83; -. DR SignaLink; Q96M83; -. DR BioGRID-ORCS; 79741; 20 hits in 1150 CRISPR screens. DR ChiTaRS; CCDC7; human. DR GenomeRNAi; 79741; -. DR Pharos; Q96M83; Tbio. DR PRO; PR:Q96M83; -. DR Proteomes; UP000005640; Chromosome 10. DR RNAct; Q96M83; Protein. DR Bgee; ENSG00000216937; Expressed in calcaneal tendon and 124 other cell types or tissues. DR ExpressionAtlas; Q96M83; baseline and differential. DR InterPro; IPR029272; CCDC7. DR PANTHER; PTHR22035; COILED-COIL DOMAIN-CONTAINING PROTEIN 7; 1. DR PANTHER; PTHR22035:SF4; COILED-COIL DOMAIN-CONTAINING PROTEIN 7; 1. DR Pfam; PF15368; BioT2; 1. DR Genevisible; Q96M83; HS. PE 1: Evidence at protein level; KW Alternative splicing; Coiled coil; Reference proteome. FT CHAIN 1..1385 FT /note="Coiled-coil domain-containing protein 7" FT /id="PRO_0000089399" FT REGION 329..364 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 422..545 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 572..752 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 809..834 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 299..330 FT /evidence="ECO:0000255" FT COILED 374..411 FT /evidence="ECO:0000255" FT COMPBIAS 349..364 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 423..440 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 441..456 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 457..481 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 492..545 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 664..699 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 714..734 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 809..830 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 267 FT /note="T -> L (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_010525" FT VAR_SEQ 268..1385 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_010526" FT VAR_SEQ 474..516 FT /note="ITAQSGRLIEKSSEKKRSSPAISDLSQILKSQDESAFLESSNE -> AVQET FT WCRHLLLARASGSFYSCRKVKWEQICHTLIMKYQMKGL (in isoform 5)" FT /id="VSP_058366" FT VAR_SEQ 474..479 FT /note="ITAQSG -> LREETI (in isoform 4)" FT /id="VSP_058367" FT VAR_SEQ 480..1385 FT /note="Missing (in isoform 4)" FT /id="VSP_058368" FT VAR_SEQ 485..486 FT /note="SS -> RC (in isoform 3)" FT /id="VSP_058369" FT VAR_SEQ 487..1385 FT /note="Missing (in isoform 3)" FT /id="VSP_058370" FT VAR_SEQ 517..1385 FT /note="Missing (in isoform 5)" FT /id="VSP_058371" FT VARIANT 148 FT /note="K -> Q (in dbSNP:rs56391924)" FT /id="VAR_061586" FT VARIANT 449 FT /note="K -> T (in dbSNP:rs12268559)" FT /id="VAR_050766" FT VARIANT 1117 FT /note="G -> A (in dbSNP:rs4448627)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_033692" FT VARIANT 1267 FT /note="M -> T (in dbSNP:rs2504011)" FT /id="VAR_024308" FT VARIANT 1364 FT /note="V -> I (in dbSNP:rs1418538)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_033693" FT CONFLICT 1055 FT /note="R -> Q (in Ref. 1; BAC05140)" FT /evidence="ECO:0000305" FT CONFLICT 1287 FT /note="T -> A (in Ref. 1; BAC05140)" FT /evidence="ECO:0000305" SQ SEQUENCE 1385 AA; 157448 MW; 90D132BC39C458C7 CRC64; MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP MVLRSPPTGE SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE TYGHCDQNGE EPFVKHEHEE LSLSVGDDMN SFLTYCSQFA AQLEEALKEE QNILESLFKW FQWQVNQMEE ISKDQTLLQA EPPKPDKTVI LNIAEIVRLV QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA LAQKIEEFLE AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK DKGKSEDSEK KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE AEKAKHQLNY FLNQEKLLKS EGKTETTMQV GNSQTKVKGE DSKNIPLEKE TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKSSEKKR SSPAISDLSQ ILKSQDESAF LESSNEVSVA ENQSYKSPSE THDKSLTTVS SSKEVQDSLS VGTLAQKNET VISPFILPPV LTESKKADVS EEQLQKMTEE QTYQAAEKSQ ADSEVPDENL MVENKDSVTK VQIEQMKQRT SSMERHEETL TTPQLPEDMV LVSRIQSETK NLKATRNESF HSHNDVPEEN LMLEQDTKSK TEVEVKKQKS FQDNQLSTHN EVPNERLVVE HQESLSKTKL QIKKQETSTE QPLTTPDKEP NENLILRHQD SMSKSEMQVK EQRTLKGQRI ITHDEEPGKN LVLEHQDSVS KLEMQIEKTK KLPREKRHST HDEESGENPM LKHQDSVSKI QVQLEIQETS EGEGRSIPDK NSMFVHQDSV SKLQMQEKKK ITPGRERRNT RIVVPNENVI SVHQDSKSKL QMQEKKQINS GVERHKTFPL EIKKKDISLE HLLPEEKVLL SRSESQTKKL QAKVTSRKIK NEAASELPDT AENLPAMYPS ISDLIIQFDL NKVVETDIES LRGALGRRLL NDEFKTQSKS FPGPDIEQLT DAFGRDILKD EFKTRSKSLP ETDERLHSTT ERGTINDAIK TQLKRKSYPE TVLKHLKGVN GKDIIKHLIN IQSKSHGETD KEHLADDTGR GIIKGSINAQ LKGHQKTDKN FFAYATGRGL MKESTTTQLK SHPETDKEFL ADAIGRGIII GPITTQLKSH RETDKELLKD AIGRDIIKGP ISAQLKSHQE TDVEPLTNAI GSSKTIGEIK TQLRTHYDVN LFKNKDMSVQ RQEGIFTRSI TPSKFPTKVI NLSPFENKEE TYEYSSPYVT APSKAIYRTY RAGPSFSKDI HLPLLNQLPS GHSKVVTLSQ KTIEFTLPTV TNTVGKPTYK VLHAAARKSV PHPYF //