CCD70_HUMAN
ID CCD70_HUMAN Reviewed; 233 AA.
AC Q6NSX1; Q8N7A8; Q9H097;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Coiled-coil domain-containing protein 70 {ECO:0000305};
DE Flags: Precursor;
GN Name=CCDC70 {ECO:0000312|HGNC:HGNC:25303};
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], AND VARIANT VAL-206.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-206.
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-206.
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).
CC -!- INTERACTION:
CC Q6NSX1; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-6873045, EBI-11522760;
CC Q6NSX1; O95393: BMP10; NbExp=3; IntAct=EBI-6873045, EBI-3922513;
CC Q6NSX1; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-6873045, EBI-10175124;
CC Q6NSX1; Q969F0: FATE1; NbExp=7; IntAct=EBI-6873045, EBI-743099;
CC Q6NSX1; Q08379: GOLGA2; NbExp=3; IntAct=EBI-6873045, EBI-618309;
CC Q6NSX1; Q14244: MAP7; NbExp=3; IntAct=EBI-6873045, EBI-2211064;
CC Q6NSX1; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-6873045, EBI-1567797;
CC Q6NSX1; Q4KMP7: TBC1D10B; NbExp=3; IntAct=EBI-6873045, EBI-4402442;
CC Q6NSX1; Q8TDR4: TCP10L; NbExp=3; IntAct=EBI-6873045, EBI-3923210;
CC Q6NSX1; P17152: TMEM11; NbExp=3; IntAct=EBI-6873045, EBI-723946;
CC Q6NSX1; P01375: TNF; NbExp=3; IntAct=EBI-6873045, EBI-359977;
CC Q6NSX1; Q9NZ43: USE1; NbExp=3; IntAct=EBI-6873045, EBI-742842;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-12 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AL136887; CAB66821.1; -; mRNA.
DR EMBL; AK098719; BAC05391.1; -; mRNA.
DR EMBL; AL162377; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC069691; AAH69691.1; -; mRNA.
DR EMBL; BC069748; AAH69748.1; -; mRNA.
DR EMBL; BC069770; AAH69770.1; -; mRNA.
DR EMBL; BC069806; AAH69806.1; -; mRNA.
DR RefSeq; NP_001333004.1; NM_001346075.1.
DR RefSeq; NP_112580.2; NM_031290.3.
DR AlphaFoldDB; Q6NSX1; -.
DR SMR; Q6NSX1; -.
DR BioGRID; 123648; 18.
DR IntAct; Q6NSX1; 14.
DR STRING; 9606.ENSP00000242819; -.
DR iPTMnet; Q6NSX1; -.
DR PhosphoSitePlus; Q6NSX1; -.
DR BioMuta; CCDC70; -.
DR MassIVE; Q6NSX1; -.
DR PaxDb; Q6NSX1; -.
DR PeptideAtlas; Q6NSX1; -.
DR PRIDE; Q6NSX1; -.
DR Antibodypedia; 42328; 66 antibodies from 18 providers.
DR DNASU; 83446; -.
DR Ensembl; ENST00000242819.7; ENSP00000242819.5; ENSG00000123171.8.
DR GeneID; 83446; -.
DR KEGG; hsa:83446; -.
DR UCSC; uc001vfu.5; human.
DR CTD; 83446; -.
DR GeneCards; CCDC70; -.
DR HGNC; HGNC:25303; CCDC70.
DR HPA; ENSG00000123171; Tissue enriched (testis).
DR neXtProt; NX_Q6NSX1; -.
DR PharmGKB; PA143485421; -.
DR VEuPathDB; HostDB:ENSG00000123171; -.
DR eggNOG; ENOG502S3RY; Eukaryota.
DR HOGENOM; CLU_1293990_0_0_1; -.
DR InParanoid; Q6NSX1; -.
DR OrthoDB; 1426765at2759; -.
DR PhylomeDB; Q6NSX1; -.
DR TreeFam; TF336984; -.
DR PathwayCommons; Q6NSX1; -.
DR SignaLink; Q6NSX1; -.
DR BioGRID-ORCS; 83446; 4 hits in 1069 CRISPR screens.
DR GeneWiki; CCDC70; -.
DR GenomeRNAi; 83446; -.
DR Pharos; Q6NSX1; Tdark.
DR PRO; PR:Q6NSX1; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q6NSX1; protein.
DR Bgee; ENSG00000123171; Expressed in left testis and 44 other tissues.
DR Genevisible; Q6NSX1; HS.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IDA:LIFEdb.
PE 1: Evidence at protein level;
KW Coiled coil; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..21
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 22..233
FT /note="Coiled-coil domain-containing protein 70"
FT /id="PRO_0000234432"
FT COILED 140..164
FT /evidence="ECO:0000255"
FT VARIANT 126
FT /note="R -> C (in dbSNP:rs17076052)"
FT /id="VAR_050763"
FT VARIANT 206
FT /note="I -> V (in dbSNP:rs1054515)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_026238"
FT CONFLICT 232
FT /note="R -> G (in Ref. 2; BAC05391)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 233 AA; 28767 MW; C692D2230C2BD090 CRC64;
MATPPFRLIR KMFSFKVSRW MGLACFRSLA ASSPSIRQKK LMHKLQEEKA FREEMKIFRE
KIEDFREEMW TFRGKIHAFR GQILGFWEEE RPFWEEEKTF WKEEKSFWEM EKSFREEEKT
FWKKYRTFWK EDKAFWKEDN ALWERDRNLL QEDKALWEEE KALWVEERAL LEGEKALWED
KTSLWEEENA LWEEERAFWM ENNGHIAGEQ MLEDGPHNAN RGQRLLAFSR GRA
