CC183_HUMAN
ID CC183_HUMAN Reviewed; 534 AA.
AC Q5T5S1; B2RP89; C9JD38; Q6P2D9; Q8NAI4; Q8TF18;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Coiled-coil domain-containing protein 183;
GN Name=CCDC183; Synonyms=KIAA1984;
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 3).
RC TISSUE=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII. The
RT complete sequences of 50 new cDNA clones which code for large proteins.";
RL DNA Res. 8:319-327(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT ARG-342.
RC TISSUE=Prostate;
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], AND VARIANTS ARG-342 AND
RP THR-421.
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP ARG-342 AND THR-421.
RC TISSUE=Brain;
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=4;
CC Name=1;
CC IsoId=Q5T5S1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T5S1-2; Sequence=VSP_026482;
CC Name=3;
CC IsoId=Q5T5S1-3; Sequence=VSP_026477, VSP_026481;
CC Name=4;
CC IsoId=Q5T5S1-4; Sequence=VSP_026478, VSP_026479, VSP_026483,
CC VSP_026484;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB85570.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- SEQUENCE CAUTION: [Isoform 2]:
CC Sequence=AAH64582.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH64582.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB075864; BAB85570.1; ALT_INIT; mRNA.
DR EMBL; AK092639; BAC03931.1; -; mRNA.
DR EMBL; AL355987; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC064582; AAH64582.1; ALT_SEQ; mRNA.
DR EMBL; BC137317; AAI37318.1; -; mRNA.
DR EMBL; BC137318; AAI37319.1; -; mRNA.
DR CCDS; CCDS43906.1; -. [Q5T5S1-1]
DR RefSeq; NP_001034463.4; NM_001039374.4. [Q5T5S1-1]
DR AlphaFoldDB; Q5T5S1; -.
DR SMR; Q5T5S1; -.
DR BioGRID; 124391; 42.
DR IntAct; Q5T5S1; 29.
DR STRING; 9606.ENSP00000338013; -.
DR CarbonylDB; Q5T5S1; -.
DR iPTMnet; Q5T5S1; -.
DR PhosphoSitePlus; Q5T5S1; -.
DR BioMuta; CCDC183; -.
DR DMDM; 296439313; -.
DR EPD; Q5T5S1; -.
DR jPOST; Q5T5S1; -.
DR MassIVE; Q5T5S1; -.
DR MaxQB; Q5T5S1; -.
DR PaxDb; Q5T5S1; -.
DR PeptideAtlas; Q5T5S1; -.
DR PRIDE; Q5T5S1; -.
DR ProteomicsDB; 64547; -. [Q5T5S1-1]
DR ProteomicsDB; 64548; -. [Q5T5S1-2]
DR ProteomicsDB; 64549; -. [Q5T5S1-3]
DR ProteomicsDB; 64550; -. [Q5T5S1-4]
DR Antibodypedia; 32242; 23 antibodies from 12 providers.
DR DNASU; 84960; -.
DR Ensembl; ENST00000338005.7; ENSP00000338013.6; ENSG00000213213.14. [Q5T5S1-1]
DR GeneID; 84960; -.
DR KEGG; hsa:84960; -.
DR MANE-Select; ENST00000338005.7; ENSP00000338013.6; NM_001039374.5; NP_001034463.4.
DR UCSC; uc004cjf.4; human. [Q5T5S1-1]
DR CTD; 84960; -.
DR GeneCards; CCDC183; -.
DR HGNC; HGNC:28236; CCDC183.
DR HPA; ENSG00000213213; Tissue enriched (testis).
DR MIM; 615955; gene.
DR neXtProt; NX_Q5T5S1; -.
DR OpenTargets; ENSG00000213213; -.
DR PharmGKB; PA134944889; -.
DR VEuPathDB; HostDB:ENSG00000213213; -.
DR eggNOG; ENOG502QTFP; Eukaryota.
DR GeneTree; ENSGT00940000163544; -.
DR HOGENOM; CLU_575639_0_0_1; -.
DR InParanoid; Q5T5S1; -.
DR OMA; LLTIQMG; -.
DR PhylomeDB; Q5T5S1; -.
DR TreeFam; TF324955; -.
DR PathwayCommons; Q5T5S1; -.
DR SignaLink; Q5T5S1; -.
DR BioGRID-ORCS; 84960; 19 hits in 1070 CRISPR screens.
DR ChiTaRS; CCDC183; human.
DR GenomeRNAi; 84960; -.
DR Pharos; Q5T5S1; Tdark.
DR PRO; PR:Q5T5S1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5T5S1; protein.
DR Bgee; ENSG00000213213; Expressed in left testis and 94 other tissues.
DR ExpressionAtlas; Q5T5S1; baseline and differential.
DR InterPro; IPR043247; CCDC183.
DR PANTHER; PTHR47115; PTHR47115; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..534
FT /note="Coiled-coil domain-containing protein 183"
FT /id="PRO_0000293465"
FT COILED 10..54
FT /evidence="ECO:0000255"
FT COILED 136..209
FT /evidence="ECO:0000255"
FT COILED 323..396
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..88
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11853319"
FT /id="VSP_026477"
FT VAR_SEQ 1..42
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026478"
FT VAR_SEQ 43..90
FT /note="ATLALLRSNIRRGAQDWALAKKYDQWTISKACGKNLPLRLAHCRSTME ->
FT MLRSRRGTEQVPSPRFPVGLPRASTRPPAGGLHGGPLRNHEWAVPFPTQ (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026479"
FT VAR_SEQ 283..534
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11853319"
FT /id="VSP_026481"
FT VAR_SEQ 370..424
FT /note="SFKSVEKKMTDMLKEEEERLQLAHSNMTKGQELLLTIQMGIDNLYVRLMGIN
FT LPA -> RCPGLPGLRATHPSLTKAPGCSQAGSWEYTHCQQACVSHRGARGLHLHTPEL
FT LSP (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026483"
FT VAR_SEQ 425..534
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026484"
FT VAR_SEQ 427..515
FT /note="REVVLSNTLDLNSKLAYCEGKLTYLADRVQMVSRTEEGDTKVRDTLESSTLM
FT EKYNTRISFENREEDMIDTFQFPDMDHSYVPSRAEIK -> VPGVRLSCHTPGPWAGPE
FT G (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026482"
FT VARIANT 38
FT /note="M -> T (in dbSNP:rs945386)"
FT /id="VAR_033046"
FT VARIANT 113
FT /note="L -> R (in dbSNP:rs4546744)"
FT /id="VAR_033047"
FT VARIANT 129
FT /note="D -> A (in dbSNP:rs7859194)"
FT /id="VAR_033048"
FT VARIANT 342
FT /note="W -> R (in dbSNP:rs2811795)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:15489334"
FT /id="VAR_033049"
FT VARIANT 421
FT /note="N -> T (in dbSNP:rs2254143)"
FT /evidence="ECO:0000269|PubMed:15164053,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_063112"
SQ SEQUENCE 534 AA; 62689 MW; D38115A57A2E228D CRC64;
MRRHSETDVE EQTQELKTIT QLQEQCRALQ IQGVKENMDQ NKATLALLRS NIRRGAQDWA
LAKKYDQWTI SKACGKNLPL RLAHCRSTME VVREKLRKYV FDRVNMHNLL IHLVRRRGQK
LESMQLELDS LRSQPDASKE ELRLLQIIRQ LENNIEKTMI KIITSQNIHL LYLDLLDYLK
TVLAGYPIEL DKLQNLVVNY CSELSDMKIM SQDAMMITDE VKRNMRQREA SFIEERRARE
NRLNQQKKLI DKIHTKETSE KYRRGQMDLD FPSNLMSTET LKLRRKETST AEMEYQSGVT
AVVEKVKSAV RCSHVWDITS RFLAQRNTEE NLELQMEDCE EWRVQLKALV KQLELEEAVL
KFRQKPSSIS FKSVEKKMTD MLKEEEERLQ LAHSNMTKGQ ELLLTIQMGI DNLYVRLMGI
NLPATQREVV LSNTLDLNSK LAYCEGKLTY LADRVQMVSR TEEGDTKVRD TLESSTLMEK
YNTRISFENR EEDMIDTFQF PDMDHSYVPS RAEIKRQAQR LIEGKLKAAK KKKK
