KCD18_HUMAN
ID KCD18_HUMAN Reviewed; 426 AA.
AC Q6PI47; Q53T21; Q6NW26; Q6PCD8; Q8N9B7; Q96N73;
DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2006, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=BTB/POZ domain-containing protein KCTD18;
GN Name=KCTD18;
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] (ISOFORMS 2 AND 3), AND VARIANT
RP VAL-333.
RC TISSUE=Liver, and Substantia nigra;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-333.
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6PI47-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PI47-2; Sequence=VSP_020325, VSP_020326;
CC Name=3;
CC IsoId=Q6PI47-3; Sequence=VSP_020323, VSP_020324;
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DR EMBL; AK055884; BAB71035.1; -; mRNA.
DR EMBL; AK095137; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC012459; AAY24308.1; -; Genomic_DNA.
DR EMBL; AC012459; AAY24309.1; -; Genomic_DNA.
DR EMBL; BC045189; AAH45189.1; -; mRNA.
DR EMBL; BC067755; AAH67755.1; -; mRNA.
DR CCDS; CCDS2330.1; -. [Q6PI47-1]
DR RefSeq; NP_001308476.1; NM_001321547.1. [Q6PI47-1]
DR RefSeq; NP_689600.2; NM_152387.3. [Q6PI47-1]
DR AlphaFoldDB; Q6PI47; -.
DR SMR; Q6PI47; -.
DR BioGRID; 126238; 13.
DR IntAct; Q6PI47; 5.
DR STRING; 9606.ENSP00000352941; -.
DR GlyGen; Q6PI47; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6PI47; -.
DR PhosphoSitePlus; Q6PI47; -.
DR BioMuta; KCTD18; -.
DR DMDM; 114149940; -.
DR EPD; Q6PI47; -.
DR jPOST; Q6PI47; -.
DR MassIVE; Q6PI47; -.
DR MaxQB; Q6PI47; -.
DR PaxDb; Q6PI47; -.
DR PeptideAtlas; Q6PI47; -.
DR PRIDE; Q6PI47; -.
DR ProteomicsDB; 67136; -. [Q6PI47-1]
DR ProteomicsDB; 67137; -. [Q6PI47-2]
DR ProteomicsDB; 67138; -. [Q6PI47-3]
DR Antibodypedia; 19920; 93 antibodies from 17 providers.
DR DNASU; 130535; -.
DR Ensembl; ENST00000359878.8; ENSP00000352941.3; ENSG00000155729.13. [Q6PI47-1]
DR Ensembl; ENST00000409157.5; ENSP00000386751.1; ENSG00000155729.13. [Q6PI47-1]
DR GeneID; 130535; -.
DR KEGG; hsa:130535; -.
DR MANE-Select; ENST00000359878.8; ENSP00000352941.3; NM_152387.4; NP_689600.2.
DR UCSC; uc002uvs.4; human. [Q6PI47-1]
DR CTD; 130535; -.
DR DisGeNET; 130535; -.
DR GeneCards; KCTD18; -.
DR HGNC; HGNC:26446; KCTD18.
DR HPA; ENSG00000155729; Low tissue specificity.
DR neXtProt; NX_Q6PI47; -.
DR OpenTargets; ENSG00000155729; -.
DR PharmGKB; PA142671639; -.
DR VEuPathDB; HostDB:ENSG00000155729; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00530000064234; -.
DR HOGENOM; CLU_052824_0_0_1; -.
DR InParanoid; Q6PI47; -.
DR OMA; IWSYYSA; -.
DR PhylomeDB; Q6PI47; -.
DR TreeFam; TF315332; -.
DR PathwayCommons; Q6PI47; -.
DR SignaLink; Q6PI47; -.
DR BioGRID-ORCS; 130535; 5 hits in 1075 CRISPR screens.
DR ChiTaRS; KCTD18; human.
DR GenomeRNAi; 130535; -.
DR Pharos; Q6PI47; Tdark.
DR PRO; PR:Q6PI47; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6PI47; protein.
DR Bgee; ENSG00000155729; Expressed in calcaneal tendon and 175 other tissues.
DR Genevisible; Q6PI47; HS.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR045704; KCTD18_C.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR Pfam; PF19321; KCTD18_C; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..426
FT /note="BTB/POZ domain-containing protein KCTD18"
FT /id="PRO_0000248596"
FT DOMAIN 12..80
FT /note="BTB"
FT REGION 305..371
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 389..408
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 305..325
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..205
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020323"
FT VAR_SEQ 206..254
FT /note="ELKKMMDAFDAWEGKGVSYWRVPHELIECWTLEERPLLGSLRHMAPIRK ->
FT MRDEVGAHKPLDSLILDQNLSVNAEGKLGRCFHELLKLYMWKMTRFCIS (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020324"
FT VAR_SEQ 222..234
FT /note="VSYWRVPHELIEC -> TVQFFYFMEAGGL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020325"
FT VAR_SEQ 235..426
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020326"
FT VARIANT 333
FT /note="A -> V (in dbSNP:rs13018579)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027355"
FT VARIANT 336
FT /note="G -> C (in dbSNP:rs10203154)"
FT /id="VAR_027356"
FT VARIANT 390
FT /note="C -> S (in dbSNP:rs3795969)"
FT /id="VAR_027357"
FT VARIANT 413
FT /note="A -> V (in dbSNP:rs10203042)"
FT /id="VAR_027358"
FT CONFLICT 200
FT /note="S -> G (in Ref. 3; AAH67755)"
FT /evidence="ECO:0000305"
FT CONFLICT Q6PI47-3:43
FT /note="M -> I (in Ref. 1; AK095137)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 426 AA; 46739 MW; 8B08E399FF618EC4 CRC64;
MEGHKAEEEV LDVLRLNVGG CIYTARRESL CRFKDSMLAS MFSGRFPLKT DESGACVIDR
DGRLFKYLLD YLHGEVQIPT DEQTRIALQE EADYFGIPYP YSLSDHLANE METYSLRSNI
ELKKALTDFC DSYGLVCNKP TVWVLHYLNT SGASCESRII GVYATKTDGT DAIEKQLGGR
IHSKGIFKRE AGNNVQYIWS YYSVAELKKM MDAFDAWEGK GVSYWRVPHE LIECWTLEER
PLLGSLRHMA PIRKRRLITF NEADESVNYK TGPKPVRFLG PSTSTQIKVK NSASVTVSPA
SAIQTSAGAT ANRFQSGSRR KAAQRSAPSR ATALVGTGAP GHPQASPGAA SAENGGTHLP
PAKVLLSDKK PTPQRVIKLK RTPLCATAPC LPSPTATRQA NSLKPLPGEA ARALGVRTEN
GKNKGN
