LOCUS       NP_001136202             865 aa            linear   PRI 27-APR-2025
DEFINITION  BTB/POZ domain-containing protein KCTD1 isoform b [Homo sapiens].
ACCESSION   NP_001136202
VERSION     NP_001136202.1
DBSOURCE    REFSEQ: accession NM_001142730.3
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 865)
  AUTHORS   Balasco,N., Ruggiero,A., Smaldone,G., Pecoraro,G., Coppola,L.,
            Pirone,L., Pedone,E.M., Esposito,L., Berisio,R. and Vitagliano,L.
  TITLE     Structural studies of KCTD1 and its disease-causing mutant P20S
            provide insights into the protein function and misfunction
  JOURNAL   Int J Biol Macromol 277 (Pt 4), 134390 (2024)
   PUBMED   39111466
  REMARK    GeneRIF: Structural studies of KCTD1 and its disease-causing mutant
            P20S provide insights into the protein function and misfunction.
REFERENCE   2  (residues 1 to 865)
  AUTHORS   Ruangchan,C., Ngamphiw,C., Krasaesin,A., Intarak,N., Tongsima,S.,
            Kaewgahya,M., Kawasaki,K., Mahawong,P., Paripurana,K., Sookawat,B.,
            Jatooratthawichot,P., Cox,T.C., Ohazama,A., Ketudat Cairns,J.R.,
            Porntaveetus,T. and Kantaputra,P.
  TITLE     Genetic Variants in KCTD1 Are Associated with Isolated Dental
            Anomalies
  JOURNAL   Int J Mol Sci 25 (10), 5179 (2024)
   PUBMED   38791218
  REMARK    GeneRIF: Genetic Variants in KCTD1 Are Associated with Isolated
            Dental Anomalies.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 865)
  AUTHORS   Raymundo,J.R., Zhang,H., Smaldone,G., Zhu,W., Daly,K.E.,
            Glennon,B.J., Pecoraro,G., Salvatore,M., Devine,W.A., Lo,C.W.,
            Vitagliano,L. and Marneros,A.G.
  TITLE     KCTD1/KCTD15 complexes control ectodermal and neural crest cell
            functions, and their impairment causes aplasia cutis
  JOURNAL   J Clin Invest 134 (4), e174138 (2023)
   PUBMED   38113115
  REMARK    GeneRIF: KCTD1/KCTD15 complexes control ectodermal and neural crest
            cell functions, and their impairment causes aplasia cutis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 865)
  AUTHORS   Marneros,A.G.
  TITLE     Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the
            Distal Nephron
  JOURNAL   Cell Rep 34 (2), 108616 (2021)
   PUBMED   33440155
  REMARK    GeneRIF: Magnesium and Calcium Homeostasis Depend on KCTD1 Function
            in the Distal Nephron.
REFERENCE   5  (residues 1 to 865)
  AUTHORS   Hu,L., Chen,L., Yang,L., Ye,Z., Huang,W., Li,X., Liu,Q., Qiu,J. and
            Ding,X.
  TITLE     KCTD1 mutants in scalp-ear-nipple syndrome and AP-2alpha P59A in
            Char syndrome reciprocally abrogate their interactions, but can
            regulate Wnt/beta-catenin signaling
  JOURNAL   Mol Med Rep 22 (5), 3895-3903 (2020)
   PUBMED   33000225
  REMARK    GeneRIF: KCTD1 mutants in scalpearnipple syndrome and AP2alpha P59A
            in Char syndrome reciprocally abrogate their interactions, but can
            regulate Wnt/betacatenin signaling.
REFERENCE   6  (residues 1 to 865)
  AUTHORS   Marneros,A.G., Beck,A.E., Turner,E.H., McMillin,M.J., Edwards,M.J.,
            Field,M., de Macena Sobreira,N.L., Perez,A.B., Fortes,J.A.,
            Lampe,A.K., Giovannucci Uzielli,M.L., Gordon,C.T., Plessis,G., Le
            Merrer,M., Amiel,J., Reichenberger,E., Shively,K.M., Cerrato,F.,
            Labow,B.I., Tabor,H.K., Smith,J.D., Shendure,J., Nickerson,D.A. and
            Bamshad,M.J.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Mutations in KCTD1 cause scalp-ear-nipple syndrome
  JOURNAL   Am J Hum Genet 92 (4), 621-626 (2013)
   PUBMED   23541344
  REMARK    GeneRIF: Mutations in KCTD1 cause scalp-ear-nipple syndrome.
REFERENCE   7  (residues 1 to 865)
  AUTHORS   Mei,F., Xiang,J., Han,S., He,Y., Lu,Y., Xu,J., Guo,D., Xiao,G.,
            Tien,P. and Sun,G.
  TITLE     Expression, purification, and secondary structure characterization
            of recombinant KCTD1
  JOURNAL   Biochemistry (Mosc) 77 (8), 941-945 (2012)
   PUBMED   22860917
REFERENCE   8  (residues 1 to 865)
  AUTHORS   Kojima,K.K. and Jurka,J.
  TITLE     Crypton transposons: identification of new diverse families and
            ancient domestication events
  JOURNAL   Mob DNA 2 (1), 12 (2011)
   PUBMED   22011512
  REMARK    Publication Status: Online-Only
REFERENCE   9  (residues 1 to 865)
  AUTHORS   Aouizerat,B.E., Vittinghoff,E., Musone,S.L., Pawlikowska,L.,
            Kwok,P.Y., Olgin,J.E. and Tseng,Z.H.
  TITLE     GWAS for discovery and replication of genetic loci associated with
            sudden cardiac arrest in patients with coronary artery disease
  JOURNAL   BMC Cardiovasc Disord 11, 29 (2011)
   PUBMED   21658281
  REMARK    Publication Status: Online-Only
REFERENCE   10 (residues 1 to 865)
  AUTHORS   Ding,X., Luo,C., Zhou,J., Zhong,Y., Hu,X., Zhou,F., Ren,K., Gan,L.,
            He,A., Zhu,J., Gao,X. and Zhang,J.
  TITLE     The interaction of KCTD1 with transcription factor AP-2alpha
            inhibits its transactivation
  JOURNAL   J Cell Biochem 106 (2), 285-295 (2009)
   PUBMED   19115315
  REMARK    GeneRIF: indicate the novel function of KCTD1 as the
            transcriptional repressor for AP-2 family, especially for AP-2alpha
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007996.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein containing a BTB
            (Broad-complex, tramtrack and bric a brac), also known as a POZ
            (POxvirus and zinc finger) protein-protein interaction domain. The
            encoded protein negatively regulates the AP-2 family of
            transcription factors and the Wnt signaling pathway. A mechanism
            for the modulation of Wnt signaling has been proposed in which the
            encoded protein enhances ubiquitination and degradation of the
            beta-catenin protein. Mutations in this gene have been identified
            in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (b).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.209212.1,
                                           SRR1803617.49877.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMN03267769
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000580059.7/ ENSP00000463041.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..865
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     Protein         1..865
                     /product="BTB/POZ domain-containing protein KCTD1 isoform
                     b"
                     /note="BTB/POZ domain-containing protein KCTD1"
                     /calculated_mol_wt=96283
     Region          284..440
                     /region_name="DUF3504"
                     /note="Domain of unknown function (DUF3504); pfam12012"
                     /db_xref="CDD:463430"
     Region          636..740
                     /region_name="BTB_POZ_KCTD1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in potassium
                     channel tetramerization domain-containing protein 1
                     (KCTD1); cd18387"
                     /db_xref="CDD:349695"
     Site            order(637,639,641,643,645..646,648..652,655,675,677,680,
                     682,684,686..688,690,693,697,700..701,703,705,707..709,
                     711..712,715,718,721)
                     /site_type="other"
                     /note="pentamer interface [polypeptide binding]"
                     /db_xref="CDD:349695"
     Region          <762..845
                     /region_name="H1_KCTD12-like"
                     /note="H1 domain found in potassium channel
                     tetramerization domain-containing proteins; cl41727"
                     /db_xref="CDD:425358"
     Site            order(784,786..787,790..791,794,800,802,808)
                     /site_type="other"
                     /note="G protein beta subunit interface [polypeptide
                     binding]"
                     /db_xref="CDD:409026"
     CDS             1..865
                     /gene="KCTD1"
                     /gene_synonym="C18orf5"
                     /coded_by="NM_001142730.3:18..2615"
                     /note="isoform b is encoded by transcript variant 3"
                     /db_xref="GeneID:284252"
                     /db_xref="HGNC:HGNC:18249"
                     /db_xref="MIM:613420"
ORIGIN      
        1 marmpgsgdc ntsaggsasa aaaaaennge rgegergagg rgrrhsrphy csageeeeee
       61 eeedeiqevq itgdeeeeed ggggleedee eeeeeemgld wdeplepeds ageelepepv
      121 hminmdqsaa lepeapprll aprarggppg dgseldpdvl qrperarlse ntrlatryav
      181 rifreylsek aqspdfetmd kgalcrvlrs fyaearsksg qlysksslis irsslnryln
      241 eppycrtldl tkdpelrsan ltlaavirkl eeqgagpvvq kqaitradlr klytssvfst
      301 ntpfgllnkv wfetcmyfct rgrenqrele edsfglamde dgrkfvyfks lgpyhksrss
      361 swskkraess deenlprmye tgtefcpyas fvkylskrnp lckaffqrpr dhcsegdvtw
      421 yenkaigknl lgtrmqmlsk aaklsktytn hcigavsiat lnsiagigtk lgspapqgcy
      481 aealngaarh hshhppthps hhhrpqppsl gntyilpkds qvgpdvksea apkralyesv
      541 fgsgeicgpt spkrlcirps epvdavvvvs vkhdplpllp eanghrstns ptivspaivs
      601 ptqdsrpnms rplitrspas plnnqgiptp aqltksnapv hidvgghmyt sslatltkyp
      661 esrigrlfdg tepivldslk qhyfidrdgq mfryilnflr tskllipddf kdytllyeea
      721 kyfqlqpmll emerwkqdre tgrfsrpcec lvvrvapdlg eritlsgdks lieevfpeig
      781 dvmcnsvnag wnhdsthvir fplngychln svqvlerlqq rgfeivgscg ggvdssqfse
      841 yvlrrelrrt prvpsvirik qepld
//
