KCTD3_HUMAN
ID KCTD3_HUMAN Reviewed; 815 AA.
AC Q9Y597; A0AV15; D3DTA6; Q49AG7; Q504Q9; Q6PJN6; Q8ND58; Q8NDJ0; Q8WX16;
DT 22-AUG-2006, integrated into UniProtKB/Swiss-Prot.
DT 22-AUG-2006, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=BTB/POZ domain-containing protein KCTD3;
DE AltName: Full=Renal carcinoma antigen NY-REN-45;
GN Name=KCTD3;
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 [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=10508479;
RX DOI=10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5;
RA Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H.,
RA Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T.,
RA Old L.J.;
RT "Antigens recognized by autologous antibody in patients with renal-cell
RT carcinoma.";
RL Int. J. Cancer 83:456-464(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP VAL-9.
RC TISSUE=Brain, Lymph, and Placenta;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-815.
RC TISSUE=Brain, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-604; SER-664; SER-711 AND
RP SER-793, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Accessory subunit of potassium/sodium hyperpolarization-
CC activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its
CC cell-surface expression and current density without affecting its
CC voltage dependence and kinetics. {ECO:0000250|UniProtKB:Q8BFX3}.
CC -!- SUBUNIT: Interacts with HCN3. {ECO:0000250|UniProtKB:Q8BFX3}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8BFX3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y597-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y597-2; Sequence=VSP_020069;
CC Name=3;
CC IsoId=Q9Y597-3; Sequence=VSP_020068;
CC -!- TISSUE SPECIFICITY: Broadly expressed in normal tissues.
CC {ECO:0000269|PubMed:10508479}.
CC -!- MISCELLANEOUS: Reacts with sera from 5-25 per cent of cancer patients
CC but not with sera from normal donors. Seventy per cent of renal cancer
CC patients have antibodies against one or a panel of these antigens.
CC -!- SIMILARITY: Belongs to the KCTD3 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH13868.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AF155110; AAD42876.1; -; mRNA.
DR EMBL; AC092799; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365315; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471100; EAW93345.1; -; Genomic_DNA.
DR EMBL; BC013868; AAH13868.1; ALT_SEQ; mRNA.
DR EMBL; BC037896; AAH37896.1; -; mRNA.
DR EMBL; BC094879; AAH94879.1; -; mRNA.
DR EMBL; BC117188; AAI17189.1; -; mRNA.
DR EMBL; BC126173; AAI26174.1; -; mRNA.
DR EMBL; AL833887; CAD38743.2; -; mRNA.
DR EMBL; AL834389; CAD39051.1; -; mRNA.
DR CCDS; CCDS1515.1; -. [Q9Y597-1]
DR RefSeq; NP_001306223.1; NM_001319294.1. [Q9Y597-2]
DR RefSeq; NP_001306224.1; NM_001319295.1.
DR RefSeq; NP_057205.2; NM_016121.4. [Q9Y597-1]
DR AlphaFoldDB; Q9Y597; -.
DR SMR; Q9Y597; -.
DR BioGRID; 119320; 162.
DR IntAct; Q9Y597; 36.
DR MINT; Q9Y597; -.
DR STRING; 9606.ENSP00000259154; -.
DR iPTMnet; Q9Y597; -.
DR PhosphoSitePlus; Q9Y597; -.
DR BioMuta; KCTD3; -.
DR DMDM; 112823993; -.
DR EPD; Q9Y597; -.
DR jPOST; Q9Y597; -.
DR MassIVE; Q9Y597; -.
DR MaxQB; Q9Y597; -.
DR PaxDb; Q9Y597; -.
DR PeptideAtlas; Q9Y597; -.
DR PRIDE; Q9Y597; -.
DR ProteomicsDB; 86320; -. [Q9Y597-1]
DR ProteomicsDB; 86321; -. [Q9Y597-2]
DR ProteomicsDB; 86322; -. [Q9Y597-3]
DR Antibodypedia; 2795; 118 antibodies from 22 providers.
DR DNASU; 51133; -.
DR Ensembl; ENST00000259154.9; ENSP00000259154.2; ENSG00000136636.13. [Q9Y597-1]
DR GeneID; 51133; -.
DR KEGG; hsa:51133; -.
DR MANE-Select; ENST00000259154.9; ENSP00000259154.2; NM_016121.5; NP_057205.2.
DR UCSC; uc001hks.5; human. [Q9Y597-1]
DR CTD; 51133; -.
DR DisGeNET; 51133; -.
DR GeneCards; KCTD3; -.
DR HGNC; HGNC:21305; KCTD3.
DR HPA; ENSG00000136636; Low tissue specificity.
DR MIM; 613272; gene.
DR neXtProt; NX_Q9Y597; -.
DR OpenTargets; ENSG00000136636; -.
DR PharmGKB; PA134945859; -.
DR VEuPathDB; HostDB:ENSG00000136636; -.
DR eggNOG; KOG2714; Eukaryota.
DR GeneTree; ENSGT00940000153881; -.
DR HOGENOM; CLU_012214_1_0_1; -.
DR InParanoid; Q9Y597; -.
DR OMA; YFMHSAS; -.
DR OrthoDB; 351369at2759; -.
DR PhylomeDB; Q9Y597; -.
DR TreeFam; TF313754; -.
DR PathwayCommons; Q9Y597; -.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR SignaLink; Q9Y597; -.
DR BioGRID-ORCS; 51133; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; KCTD3; human.
DR GenomeRNAi; 51133; -.
DR Pharos; Q9Y597; Tdark.
DR PRO; PR:Q9Y597; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9Y597; protein.
DR Bgee; ENSG00000136636; Expressed in jejunal mucosa and 193 other tissues.
DR ExpressionAtlas; Q9Y597; baseline and differential.
DR Genevisible; Q9Y597; HS.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 2.130.10.10; -; 2.
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 InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00320; WD40; 3.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Membrane; Phosphoprotein;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..815
FT /note="BTB/POZ domain-containing protein KCTD3"
FT /id="PRO_0000247839"
FT DOMAIN 18..87
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 174..218
FT /note="WD 1"
FT REPEAT 224..263
FT /note="WD 2"
FT REPEAT 270..305
FT /note="WD 3"
FT REPEAT 310..342
FT /note="WD 4"
FT REPEAT 354..404
FT /note="WD 5"
FT REPEAT 412..449
FT /note="WD 6"
FT REPEAT 457..504
FT /note="WD 7"
FT REPEAT 510..569
FT /note="WD 8"
FT REGION 139..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 512..815
FT /note="Interaction with HCN3"
FT /evidence="ECO:0000250|UniProtKB:Q8BFX3"
FT REGION 736..815
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 736..757
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 773..799
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 604
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 664
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 711
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 793
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..646
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020068"
FT VAR_SEQ 583..584
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020069"
FT VARIANT 9
FT /note="F -> V (in dbSNP:rs2275768)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027156"
FT CONFLICT 207
FT /note="C -> W (in Ref. 1; AAD42876)"
FT /evidence="ECO:0000305"
FT CONFLICT 503
FT /note="K -> I (in Ref. 5; CAD38743)"
FT /evidence="ECO:0000305"
FT CONFLICT 742
FT /note="S -> P (in Ref. 5; CAD38743)"
FT /evidence="ECO:0000305"
FT CONFLICT 803
FT /note="H -> HK (in Ref. 5; CAD38743)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 815 AA; 88984 MW; 65131F449069B5B9 CRC64;
MAGGHCGSFP AAAAGSGEIV QLNVGGTRFS TSRQTLMWIP DSFFSSLLSG RISTLRDETG
AIFIDRDPAA FAPILNFLRT KELDLRGVSI NVLRHEAEFY GITPLVRRLL LCEELERSSC
GSVLFHGYLP PPGIPSRKIN NTVRSADSRN GLNSTEGEAR GNGTQPVLSG TGEETVRLGF
PVDPRKVLIV AGHHNWIVAA YAHFAVCYRI KESSGWQQVF TSPYLDWTIE RVALNAKVVG
GPHGDKDKMV AVASESSIIL WSVQDGGSGS EIGVFSLGVP VDALFFIGNQ LVATSHTGKV
GVWNAVTQHW QVQDVVPITS YDTAGSFLLL GCNNGSIYYI DMQKFPLRMK DNDLLVTELY
HDPSNDAITA LSVYLTPKTS VSGNWIEIAY GTSSGAVRVI VQHPETVGSG PQLFQTFTVH
RSPVTKIMLS EKHLVSVCAD NNHVRTWTVT RFRGMISTQP GSTPLASFKI LSLEETESHG
SYSSGNDIGP FGERDDQQVF IQKVVPITNK LFVRLSSTGK RICEIQAVDC TTISSFTVRE
CEGSSRMGSR PRRYLFTGHT NGSIQMWDLT TAMDMVNKSE DKDVGGPTEE ELLKLLDQCD
LSTSRCATPN ISPATSVVQH SHLRESNSSL QLQHHDTTHE AATYGSMRPY RESPLLARAR
RTESFHSYRD FQTINLNRNV ERAVPENGNL GPIQAEVKGA TGECNISERK SPGVEIKSLR
ELDSGLEVHK IAEGFSESKK RSSEDENENK IEFRKKGGFE GGGFLGRKKV PYLASSPSTS
DGGTDSPGTA SPSPTKTTPS PRHKKSDSSG QEYSL
