CC122_HUMAN
ID CC122_HUMAN Reviewed; 273 AA.
AC Q5T0U0; B2RP70; B7ZMI9; Q96MV0;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Coiled-coil domain-containing protein 122;
GN Name=CCDC122;
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).
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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5T0U0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T0U0-2; Sequence=VSP_025114;
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DR EMBL; AK056408; BAB71178.1; -; mRNA.
DR EMBL; AL512506; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137289; AAI37290.1; -; mRNA.
DR EMBL; BC137290; AAI37291.1; -; mRNA.
DR EMBL; BC144570; AAI44571.1; -; mRNA.
DR CCDS; CCDS9390.2; -. [Q5T0U0-1]
DR RefSeq; NP_659411.2; NM_144974.3. [Q5T0U0-1]
DR RefSeq; XP_016875886.1; XM_017020397.1. [Q5T0U0-1]
DR AlphaFoldDB; Q5T0U0; -.
DR SMR; Q5T0U0; -.
DR BioGRID; 127769; 9.
DR IntAct; Q5T0U0; 7.
DR STRING; 9606.ENSP00000407763; -.
DR iPTMnet; Q5T0U0; -.
DR PhosphoSitePlus; Q5T0U0; -.
DR BioMuta; CCDC122; -.
DR DMDM; 74744358; -.
DR EPD; Q5T0U0; -.
DR MassIVE; Q5T0U0; -.
DR PaxDb; Q5T0U0; -.
DR PeptideAtlas; Q5T0U0; -.
DR PRIDE; Q5T0U0; -.
DR ProteomicsDB; 64202; -. [Q5T0U0-1]
DR ProteomicsDB; 64203; -. [Q5T0U0-2]
DR Antibodypedia; 53003; 69 antibodies from 11 providers.
DR DNASU; 160857; -.
DR Ensembl; ENST00000444614.8; ENSP00000407763.2; ENSG00000151773.13. [Q5T0U0-1]
DR GeneID; 160857; -.
DR KEGG; hsa:160857; -.
DR MANE-Select; ENST00000444614.8; ENSP00000407763.2; NM_144974.5; NP_659411.2.
DR UCSC; uc010acf.4; human. [Q5T0U0-1]
DR CTD; 160857; -.
DR DisGeNET; 160857; -.
DR GeneCards; CCDC122; -.
DR HGNC; HGNC:26478; CCDC122.
DR HPA; ENSG00000151773; Low tissue specificity.
DR MIM; 613408; gene.
DR neXtProt; NX_Q5T0U0; -.
DR OpenTargets; ENSG00000151773; -.
DR PharmGKB; PA147358230; -.
DR VEuPathDB; HostDB:ENSG00000151773; -.
DR eggNOG; ENOG502RYNY; Eukaryota.
DR GeneTree; ENSGT00390000005130; -.
DR HOGENOM; CLU_085397_1_0_1; -.
DR InParanoid; Q5T0U0; -.
DR OMA; EVQNKRY; -.
DR OrthoDB; 1503274at2759; -.
DR PhylomeDB; Q5T0U0; -.
DR TreeFam; TF335842; -.
DR PathwayCommons; Q5T0U0; -.
DR SignaLink; Q5T0U0; -.
DR BioGRID-ORCS; 160857; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; CCDC122; human.
DR GenomeRNAi; 160857; -.
DR Pharos; Q5T0U0; Tdark.
DR PRO; PR:Q5T0U0; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q5T0U0; protein.
DR Bgee; ENSG00000151773; Expressed in calcaneal tendon and 95 other tissues.
DR ExpressionAtlas; Q5T0U0; baseline and differential.
DR InterPro; IPR039998; CCDC122.
DR PANTHER; PTHR12138:SF100; PTHR12138:SF100; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..273
FT /note="Coiled-coil domain-containing protein 122"
FT /id="PRO_0000286598"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 24..116
FT /evidence="ECO:0000255"
FT COILED 179..269
FT /evidence="ECO:0000255"
FT COMPBIAS 15..39
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 225..273
FT /note="VQHKRYDAILKRLHCQVNKLQSNRRQWQWNIQQLEKTAAELRKCIGMQE ->
FT GLAPSPRLECSSAISAHCKLCLPGSRHSPASASGVAGTTGACHHTQLIFCIFSRDGVSP
FT C (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_025114"
FT VARIANT 269
FT /note="I -> T (in dbSNP:rs9567280)"
FT /id="VAR_061579"
SQ SEQUENCE 273 AA; 32206 MW; A10760797D60B759 CRC64;
MSDNKERKSQ GFPKEDNQDT SSLADAVEKV AKQQQSQASE IEKNKKVLFN LKNELHELEK
EIAAISAETK ETERQIYQQD SAIENTKLHC DSLETQIKSL HSENVKLKFD IETAQEDFEE
HMIKYNAYYA KIKAHKNSLG EVESKWSFMT ELHEKRDFVK KLKTMKEELM QDLQNPGGNR
ITQVQEDITN LKDKIITVKE SIIEKTCFLE EEKKTHEKLR KEIEVQHKRY DAILKRLHCQ
VNKLQSNRRQ WQWNIQQLEK TAAELRKCIG MQE
