KCTD8_HUMAN
ID KCTD8_HUMAN Reviewed; 473 AA.
AC Q6ZWB6; A2RU39;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=BTB/POZ domain-containing protein KCTD8;
GN Name=KCTD8;
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].
RC TISSUE=Brain;
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 MRNA].
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 -!- FUNCTION: Auxiliary subunit of GABA-B receptors that determine the
CC pharmacology and kinetics of the receptor response. Increases agonist
CC potency and markedly alter the G-protein signaling of the receptors by
CC accelerating onset and promoting desensitization (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts as a tetramer with GABRB1 and GABRB2. {ECO:0000250}.
CC -!- INTERACTION:
CC Q6ZWB6; P61978-2: HNRNPK; NbExp=3; IntAct=EBI-6426198, EBI-7060731;
CC -!- SUBCELLULAR LOCATION: Presynaptic cell membrane {ECO:0000250}.
CC Postsynaptic cell membrane {ECO:0000250}.
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DR EMBL; AK123347; BAC85588.1; -; mRNA.
DR EMBL; BC132743; AAI32744.1; -; mRNA.
DR EMBL; BC136793; AAI36794.1; -; mRNA.
DR CCDS; CCDS3467.1; -.
DR RefSeq; NP_938167.1; NM_198353.2.
DR PDB; 6G57; X-ray; 2.80 A; A/B/C/D=201-322.
DR PDBsum; 6G57; -.
DR AlphaFoldDB; Q6ZWB6; -.
DR SMR; Q6ZWB6; -.
DR BioGRID; 132113; 3.
DR CORUM; Q6ZWB6; -.
DR IntAct; Q6ZWB6; 4.
DR STRING; 9606.ENSP00000353129; -.
DR ChEMBL; CHEMBL4523356; -.
DR GuidetoPHARMACOLOGY; 1917; -.
DR iPTMnet; Q6ZWB6; -.
DR PhosphoSitePlus; Q6ZWB6; -.
DR BioMuta; KCTD8; -.
DR DMDM; 74749707; -.
DR jPOST; Q6ZWB6; -.
DR MassIVE; Q6ZWB6; -.
DR MaxQB; Q6ZWB6; -.
DR PaxDb; Q6ZWB6; -.
DR PeptideAtlas; Q6ZWB6; -.
DR PRIDE; Q6ZWB6; -.
DR ProteomicsDB; 68472; -.
DR Antibodypedia; 23721; 84 antibodies from 16 providers.
DR DNASU; 386617; -.
DR Ensembl; ENST00000360029.4; ENSP00000353129.3; ENSG00000183783.7.
DR GeneID; 386617; -.
DR KEGG; hsa:386617; -.
DR MANE-Select; ENST00000360029.4; ENSP00000353129.3; NM_198353.3; NP_938167.1.
DR UCSC; uc003gwu.4; human.
DR CTD; 386617; -.
DR DisGeNET; 386617; -.
DR GeneCards; KCTD8; -.
DR HGNC; HGNC:22394; KCTD8.
DR HPA; ENSG00000183783; Group enriched (brain, retina).
DR MIM; 618442; gene.
DR neXtProt; NX_Q6ZWB6; -.
DR OpenTargets; ENSG00000183783; -.
DR PharmGKB; PA134909779; -.
DR VEuPathDB; HostDB:ENSG00000183783; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00940000161041; -.
DR HOGENOM; CLU_057051_1_0_1; -.
DR InParanoid; Q6ZWB6; -.
DR OMA; MFSPCRG; -.
DR OrthoDB; 1579292at2759; -.
DR PhylomeDB; Q6ZWB6; -.
DR TreeFam; TF315332; -.
DR PathwayCommons; Q6ZWB6; -.
DR SignaLink; Q6ZWB6; -.
DR BioGRID-ORCS; 386617; 13 hits in 1069 CRISPR screens.
DR ChiTaRS; KCTD8; human.
DR GenomeRNAi; 386617; -.
DR Pharos; Q6ZWB6; Tbio.
DR PRO; PR:Q6ZWB6; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6ZWB6; protein.
DR Bgee; ENSG00000183783; Expressed in cerebellar vermis and 89 other tissues.
DR ExpressionAtlas; Q6ZWB6; baseline and differential.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0042995; C:cell projection; IEA:UniProtKB-KW.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0042734; C:presynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0043235; C:receptor complex; IBA:GO_Central.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR GO; GO:0008277; P:regulation of G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell membrane; Cell projection; Membrane; Methylation;
KW Phosphoprotein; Postsynaptic cell membrane; Reference proteome; Synapse.
FT CHAIN 1..473
FT /note="BTB/POZ domain-containing protein KCTD8"
FT /id="PRO_0000251481"
FT DOMAIN 44..122
FT /note="BTB"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 326..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..29
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 327..345
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 346..392
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 78
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q50H33"
FT MOD_RES 80
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q50H33"
FT MOD_RES 410
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q50H33"
FT VARIANT 329
FT /note="P -> L (in dbSNP:rs13115990)"
FT /id="VAR_027692"
FT STRAND 207..216
FT /evidence="ECO:0007829|PDB:6G57"
FT STRAND 234..240
FT /evidence="ECO:0007829|PDB:6G57"
FT HELIX 241..248
FT /evidence="ECO:0007829|PDB:6G57"
FT HELIX 249..251
FT /evidence="ECO:0007829|PDB:6G57"
FT STRAND 265..270
FT /evidence="ECO:0007829|PDB:6G57"
FT HELIX 276..285
FT /evidence="ECO:0007829|PDB:6G57"
FT STRAND 289..300
FT /evidence="ECO:0007829|PDB:6G57"
FT STRAND 310..321
FT /evidence="ECO:0007829|PDB:6G57"
SQ SEQUENCE 473 AA; 52440 MW; D5AA3F75716D3715 CRC64;
MALKDTGSGG STILPISEMV SSSSSPGASA AAAPGPCAPS PFPEVVELNV GGQVYVTKHS
TLLSVPDSTL ASMFSPSSPR GGARRRGELP RDSRARFFID RDGFLFRYVL DYLRDKQLAL
PEHFPEKERL LREAEYFQLT DLVKLLSPKV TKQNSLNDEG CQSDLEDNVS QGSSDALLLR
GAAAAVPSGP GAHGGGGGGG AQDKRSGFLT LGYRGSYTTV RDNQADAKFR RVARIMVCGR
IALAKEVFGD TLNESRDPDR QPEKYTSRFY LKFTYLEQAF DRLSEAGFHM VACNSSGTAA
FVNQYRDDKI WSSYTEYIFF RPPQKIVSPK QEHEDRKHDK VTDKGSESGT SCNELSTSSC
DSHSEASTPQ DNPSSAQQAT AHQPNTLTLD RPSKKAPVQW IPPPDKRRNS ELFQTLISKS
RETNLSKKKV CEKLSVEEEM KKCIQDFKKI HIPDYFPERK RQWQSELLQK YGL