CCDC7_HUMAN
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 03-AUG-2022, entry version 141.
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};
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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. [Q96M83-1]
DR AlphaFoldDB; Q96M83; -.
DR SMR; Q96M83; -.
DR BioGRID; 122854; 12.
DR IntAct; Q96M83; 9.
DR STRING; 9606.ENSP00000355078; -.
DR iPTMnet; Q96M83; -.
DR PhosphoSitePlus; Q96M83; -.
DR BioMuta; CCDC7; -.
DR DMDM; 48428133; -.
DR jPOST; Q96M83; -.
DR MassIVE; Q96M83; -.
DR MaxQB; Q96M83; -.
DR PaxDb; Q96M83; -.
DR PeptideAtlas; Q96M83; -.
DR PRIDE; Q96M83; -.
DR ProteomicsDB; 77306; -. [Q96M83-1]
DR ProteomicsDB; 77307; -. [Q96M83-2]
DR Antibodypedia; 80107; 75 antibodies from 20 providers.
DR DNASU; 221016; -.
DR Ensembl; ENST00000277657.12; ENSP00000277657.6; ENSG00000216937.13. [Q96M83-3]
DR Ensembl; ENST00000362006.11; ENSP00000355078.5; ENSG00000216937.13. [Q96M83-3]
DR Ensembl; ENST00000476558.7; ENSP00000436435.3; ENSG00000216937.13. [Q96M83-2]
DR Ensembl; ENST00000639629.1; ENSP00000491655.1; ENSG00000216937.13. [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 CTD; 79741; -.
DR DisGeNET; 79741; -.
DR GeneCards; CCDC7; -.
DR HGNC; HGNC:26533; CCDC7.
DR HPA; ENSG00000216937; Group enriched (brain, 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; 1514586at2759; -.
DR TreeFam; TF337205; -.
DR TreeFam; TF351892; -.
DR PathwayCommons; Q96M83; -.
DR SignaLink; Q96M83; -.
DR BioGRID-ORCS; 79741; 18 hits in 1073 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 122 other tissues.
DR ExpressionAtlas; Q96M83; baseline and differential.
DR Genevisible; Q96M83; HS.
DR InterPro; IPR029272; CCDC7.
DR PANTHER; PTHR22035; PTHR22035; 3.
DR Pfam; PF15368; BioT2; 1.
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
