LOCUS       NP_057205                815 aa            linear   PRI 04-APR-2024
DEFINITION  BTB/POZ domain-containing protein KCTD3 isoform 1 [Homo sapiens].
ACCESSION   NP_057205
VERSION     NP_057205.2
DBSOURCE    REFSEQ: accession NM_016121.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 815)
  AUTHORS   Faqeih,E.A., Almannai,M., Saleh,M.M., AlWadei,A.H., Samman,M.M. and
            Alkuraya,F.S.
  TITLE     Phenotypic characterization of KCTD3-related developmental
            epileptic encephalopathy
  JOURNAL   Clin Genet 93 (5), 1081-1086 (2018)
   PUBMED   29406573
  REMARK    GeneRIF: this largest series to date on KCTD3-mutated patients, we
            show that biallelic loss of function mutations in KCTD3 lead to a
            consistent phenotype of developmental epileptic encephalopathy and
            abnormal cerebellum on brain imaging.
REFERENCE   2  (residues 1 to 815)
  AUTHORS   Alazami,A.M., Patel,N., Shamseldin,H.E., Anazi,S., Al-Dosari,M.S.,
            Alzahrani,F., Hijazi,H., Alshammari,M., Aldahmesh,M.A., Salih,M.A.,
            Faqeih,E., Alhashem,A., Bashiri,F.A., Al-Owain,M., Kentab,A.Y.,
            Sogaty,S., Al Tala,S., Temsah,M.H., Tulbah,M., Aljelaify,R.F.,
            Alshahwan,S.A., Seidahmed,M.Z., Alhadid,A.A., Aldhalaan,H.,
            AlQallaf,F., Kurdi,W., Alfadhel,M., Babay,Z., Alsogheer,M.,
            Kaya,N., Al-Hassnan,Z.N., Abdel-Salam,G.M., Al-Sannaa,N., Al
            Mutairi,F., El Khashab,H.Y., Bohlega,S., Jia,X., Nguyen,H.C.,
            Hammami,R., Adly,N., Mohamed,J.Y., Abdulwahab,F., Ibrahim,N.,
            Naim,E.A., Al-Younes,B., Meyer,B.F., Hashem,M., Shaheen,R.,
            Xiong,Y., Abouelhoda,M., Aldeeri,A.A., Monies,D.M. and
            Alkuraya,F.S.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   3  (residues 1 to 815)
  AUTHORS   Cao-Ehlker,X., Zong,X., Hammelmann,V., Gruner,C., Fenske,S.,
            Michalakis,S., Wahl-Schott,C. and Biel,M.
  TITLE     Up-regulation of hyperpolarization-activated cyclic
            nucleotide-gated channel 3 (HCN3) by specific interaction with K+
            channel tetramerization domain-containing protein 3 (KCTD3)
  JOURNAL   J Biol Chem 288 (11), 7580-7589 (2013)
   PUBMED   23382386
  REMARK    GeneRIF: KCTD3 is an accessory subunit of native HCN3 complexes
REFERENCE   4  (residues 1 to 815)
  AUTHORS   Poot,M., Beyer,V., Schwaab,I., Damatova,N., Van't Slot,R.,
            Prothero,J., Holder,S.E. and Haaf,T.
  TITLE     Disruption of CNTNAP2 and additional structural genome changes in a
            boy with speech delay and autism spectrum disorder
  JOURNAL   Neurogenetics 11 (1), 81-89 (2010)
   PUBMED   19582487
REFERENCE   5  (residues 1 to 815)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   6  (residues 1 to 815)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365315.8, HY029594.1,
            BC117188.1, BC094879.1 and CK902987.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 7, 2004 this sequence version replaced NP_057205.1.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization-domain containing (KCTD) protein family. Members of
            this protein family regulate the biophysical characteristics of ion
            channels. In mouse, this protein interacts with
            hyperpolarization-activated cyclic nucleotide-gated channel complex
            3 and enhances its cell surface expression and current density.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.149050.1,
                                           SRR1803613.94087.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259154.9/ ENSP00000259154.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..815
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     Protein         1..815
                     /product="BTB/POZ domain-containing protein KCTD3 isoform
                     1"
                     /note="NY-REN-45 antigen; BTB/POZ domain-containing
                     protein KCTD3; renal carcinoma antigen NY-REN-45;
                     potassium channel tetramerisation domain containing 3"
                     /calculated_mol_wt=88853
     Region          17..119
                     /region_name="BTB_POZ_SHKBP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in SH3KBP1-binding
                     protein 1 (SHKBP1); cd18393"
                     /db_xref="CDD:349701"
     Region          139..170
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          143..>449
                     /region_name="WD40"
                     /note="WD40 repeat [General function prediction only];
                     COG2319"
                     /db_xref="CDD:441893"
     Region          174..218
                     /region_name="WD 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          224..263
                     /region_name="WD 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          270..305
                     /region_name="WD 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          310..342
                     /region_name="WD 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          354..404
                     /region_name="WD 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          412..449
                     /region_name="WD 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          457..504
                     /region_name="WD 7"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          510..569
                     /region_name="WD 8"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          512..815
                     /region_name="Interaction with HCN3.
                     /evidence=ECO:0000250|UniProtKB:Q8BFX3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            604
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            664
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            711
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     Region          736..815
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y597.2)"
     Site            793
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y597.2)"
     CDS             1..815
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /coded_by="NM_016121.5:383..2830"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS1515.1"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
ORIGIN      
        1 magghcgsfp aaaagsgeiv qlnvggtrfs tsrqtlmwip dsffssllsg ristlrdetg
       61 aifidrdpaa fapilnflrt keldlrgvsi nvlrheaefy gitplvrrll lceelerssc
      121 gsvlfhgylp ppgipsrkin ntvrsadsrn glnstegear gngtqpvlsg tgeetvrlgf
      181 pvdprkvliv aghhnwivaa yahfavcyri kessgwqqvf tspyldwtie rvalnakvvg
      241 gphgdkdkmv avasessiil wsvqdggsgs eigvfslgvp vdalffignq lvatshtgkv
      301 gvwnavtqhw qvqdvvpits ydtagsflll gcnngsiyyi dmqkfplrmk dndllvtely
      361 hdpsndaita lsvyltpkts vsgnwieiay gtssgavrvi vqhpetvgsg pqlfqtftvh
      421 rspvtkimls ekhlvsvcad nnhvrtwtvt rfrgmistqp gstplasfki lsleeteshg
      481 syssgndigp fgerddqqvf iqkvvpitnk lfvrlsstgk riceiqavdc ttissftvre
      541 cegssrmgsr prrylftght ngsiqmwdlt tamdmvnkse dkdvggptee ellklldqcd
      601 lstsrcatpn ispatsvvqh shlresnssl qlqhhdtthe aatygsmrpy respllarar
      661 rtesfhsyrd fqtinlnrnv eravpengnl gpiqaevkga tgecniserk spgveikslr
      721 eldsglevhk iaegfseskk rssedenenk iefrkkggfe gggflgrkkv pylasspsts
      781 dggtdspgta spsptkttps prhkksdssg qeysl
//
