LOCUS       NM_001410898            2934 bp    mRNA    linear   PRI 23-NOV-2023
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 13
            (KCTD13), transcript variant 3, mRNA.
ACCESSION   NM_001410898 XM_017023106
VERSION     NM_001410898.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2934)
  AUTHORS   Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S,
            O'Neill M, Ridgeway A, Moore J, Jorgez C and Lamb DJ.
  TITLE     Gene dosage changes in KCTD13 result in penile and testicular
            anomalies via diminished androgen receptor function
  JOURNAL   FASEB J 36 (11), e22567 (2022)
   PUBMED   36196997
  REMARK    GeneRIF: Gene dosage changes in KCTD13 result in penile and
            testicular anomalies via diminished androgen receptor function.
REFERENCE   2  (bases 1 to 2934)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2934)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
            Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
            Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
            Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2934)
  AUTHORS   Kizner V, Naujock M, Fischer S, Jager S, Reich S, Schlotthauer I,
            Zuckschwerdt K, Geiger T, Hildebrandt T, Lawless N, Macartney T,
            Dorner-Ciossek C and Gillardon F.
  TITLE     CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene
            KCTD13 Causes Developmental Deficits in Human Cortical Neurons
            Derived from Induced Pluripotent Stem Cells
  JOURNAL   Mol Neurobiol 57 (2), 616-634 (2020)
   PUBMED   31402430
  REMARK    GeneRIF: CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk
            Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons
            Derived from Induced Pluripotent Stem Cells.
REFERENCE   5  (bases 1 to 2934)
  AUTHORS   Gimeno-Ferrer F, Albuquerque D, Guzman Lujan C, Marcaida Benito G,
            Torreira Banzas C, Reparaz-Andrade A, Ballesteros Cogollos V, Aleu
            Perez-Gramunt M, Galan Gomez E, Quintela I and Rodriguez-Lopez R.
  TITLE     The effect of copy number variations in chromosome 16p on body
            weight in patients with intellectual disability
  JOURNAL   J Hum Genet 64 (3), 221-231 (2019)
   PUBMED   30518945
  REMARK    GeneRIF: Copy number variations in KCTD13 gene is associated with
            proximal syndromes with intellectual disability.
REFERENCE   6  (bases 1 to 2934)
  AUTHORS   Tomaru T, Satoh T, Yoshino S, Ishizuka T, Hashimoto K, Monden T,
            Yamada M and Mori M.
  TITLE     Isolation and characterization of a transcriptional cofactor and
            its novel isoform that bind the deoxyribonucleic acid-binding
            domain of peroxisome proliferator-activated receptor-gamma
  JOURNAL   Endocrinology 147 (1), 377-388 (2006)
   PUBMED   16239304
  REMARK    GeneRIF: PDIP1 mRNA was expressed in 3T3-L1 adipocytes and THP-1
            macrophages
REFERENCE   7  (bases 1 to 2934)
  AUTHORS   Zhou J, Hu X, Xiong X, Liu X, Liu Y, Ren K, Jiang T, Hu X and Zhang
            J.
  TITLE     Cloning of two rat PDIP1 related genes and their interactions with
            proliferating cell nuclear antigen
  JOURNAL   J Exp Zool A Comp Exp Biol 303 (3), 227-240 (2005)
   PUBMED   15726626
REFERENCE   8  (bases 1 to 2934)
  AUTHORS   Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X,
            Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X,
            Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S and Gu J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   9  (bases 1 to 2934)
  AUTHORS   Kutsenko AS, Gizatullin RZ, Al-Amin AN, Wang F, Kvasha SM, Podowski
            RM, Matushkin YG, Gyanchandani A, Muravenko OV, Levitsky VG,
            Kolchanov NA, Protopopov AI, Kashuba VI, Kisselev LL, Wasserman W,
            Wahlestedt C and Zabarovsky ER.
  TITLE     NotI flanking sequences: a tool for gene discovery and verification
            of the human genome
  JOURNAL   Nucleic Acids Res 30 (14), 3163-3170 (2002)
   PUBMED   12136098
REFERENCE   10 (bases 1 to 2934)
  AUTHORS   He H, Tan CK, Downey KM and So AG.
  TITLE     A tumor necrosis factor alpha- and interleukin 6-inducible protein
            that interacts with the small subunit of DNA polymerase delta and
            proliferating cell nuclear antigen
  JOURNAL   Proc Natl Acad Sci U S A 98 (21), 11979-11984 (2001)
   PUBMED   11593007
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC120114.2 and KF459558.1.
            
            On Aug 17, 2022 this sequence version replaced XM_017023106.3.
            
            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 :: SRR14038192.457322.1,
                                           SRR14372080.3423576.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-437               AC120114.2         103861-104297       c
            438-607             AC120114.2         101261-101430       c
            608-2654            AC120114.2         97986-100032        c
            2655-2934           KF459558.1         77-356              c
FEATURES             Location/Qualifiers
     source          1..2934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2934
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="potassium channel tetramerization domain containing
                     13"
                     /db_xref="GeneID:253980"
                     /db_xref="HGNC:HGNC:22234"
                     /db_xref="MIM:608947"
     exon            1..437
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    74..76
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="upstream in-frame stop codon"
     CDS             194..715
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="isoform 2 is encoded by transcript variant 3;
                     BTB/POZ domain-containing protein KCTD13; polymerase
                     delta-interacting protein 1; BTB/POZ domain-containing
                     adapter for CUL3-mediated RhoA degradation protein 1;
                     TNFAIP1-like protein; potassium channel tetramerisation
                     domain containing 13; CTD-2574D22.4"
                     /codon_start=1
                     /product="BTB/POZ domain-containing adapter for
                     CUL3-mediated RhoA degradation protein 1 isoform 2"
                     /protein_id="NP_001397827.1"
                     /db_xref="CCDS:CCDS92133.1"
                     /db_xref="GeneID:253980"
                     /db_xref="HGNC:HGNC:22234"
                     /db_xref="MIM:608947"
                     /translation="

MSAEASGPAAAAAPSLEAPKPSGLEPGPAAYGLKPLTPNSKYVKLNVGGSLHYTTLRTLTGQDTMLKAMFSGRVEVLTDAGGWVLIDRSGRHFGTILNYLRDGSVPLPESTRELGELLGEARYYLVQGLIEDCQLALQSLSVAQAGVQWRDLGSPQPLPPRFKQFSCLSLPSS"

     misc_feature    194..286
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WZ19.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    311..607
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain superfamily; Region:
                     BTB_POZ; cl38908"
                     /db_xref="CDD:453885"
     exon            438..607
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            608..2934
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2912..2917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="hexamer: AATAAA"
     polyA_site      2934
                     /gene="KCTD13"
                     /gene_synonym="BACURD1; FKSG86; hBACURD1; PDIP1; POLDIP1"
                     /note="major polyA site"
ORIGIN      

agctgcccggcgccggcttccgggtggtgcgagcgagatggggcggagggccggtcttgcagagtagctgcggtgagtgggcgtgtgcgccgagcggtctggcccaagggctgggggccggccgagggtcttcgggagcaggccgcagggcgcggagagatcctgggatcgccgtccgccgctgctacccggcatgtcggcggaggcctcgggcccggctgccgccgcggccccgtccctggaagcccccaagccctcgggtctcgagcctggccccgccgcctacggtctcaagccgctgaccccgaacagcaaatacgtgaagctgaacgtgggcggctcgttgcactacaccacgctgcgcaccctcacgggacaggacaccatgctcaaagccatgttcagcggccgcgtggaggtgctgaccgatgccggaggttgggtgctgattgaccggagcggccgtcactttggtacaatcctcaattacctgcgggatgggtctgtgccactgccggagagtacgagagaactgggggagctgctgggcgaagcacgctactacctggtgcagggcctgattgaggactgccagctggcgctgcagagtctctctgtcgcccaggctggagtgcaatggcgtgatcttggctcaccgcaacctctgcctcccaggttcaagcaattctcctgcctcagcctcccaagtagctagaattacaggcgcctgctaccacgctttgctacttttttgtatttttagtagagacggggtttcaccatgtttgttaggctggtgtcgaactcctgacctcacgtgatccatccgccttggccccccaaagtgctgggattacaggcgtgagccaccggcctgtagttttaaatttactaatgttaaaactaaagttttaaaacccggcctgtagttttaaatttactaatgtcatcatgtacccactgtgtgtcaggagcaattctgctatctgcttgtgtatacatcttgtatccttgtttgacgtaaaaagaaacgcgagggagcttggaagacgtgtccaaggtgaaagagctgggaagcagcagagctcagatttgaccccaggctacctgactatctgaccttcagcctcccaagagctgtacttttctatactcctgctctctcctttccaggttccctctgcacctcacgcagctcagcacactcctcagtgtgtggcacttcatcaatattggtctatgcaaaccttttgtcttttagttttatttctttcccttcattcccagtcccctgcctactttcctttttcccaggggcacccatccaattttaatgttttgatacatatgctcgaaaagctaaagcattgttctgcatatgtgtgcattttaaatgtccataaatggcattgaagctgtgaatcagtttctgttgcattgtgtttttttaattcagcactttttttcaagatctattcatgctgctccaagtacatctagttctttgcttctaacagctgcagagaaatctgcggtgttcattcaccatattttgttcatacattcccctgaggttggagacctagattgccttccagttcctgcccctacaaaccgtgtcaccatgagcatcctggtacatgctcccttctgattctgtgccagtctcctgtcattgtagctgggagtagaattgctggataacaggacacctgcaaacggcgttttagtaaatatcatctaattgctctcccgaatggttataatactttatcctcataatgagcagtgcataagagattacatttctgcatgtcctcatcaagacatggcatcatccagctttctaattttgccaatccaatgagtgtagcgtgatctcattttcatttgcatgcctctgattactaatgaggttcagcatcttttcatatactcactagtgtttttttgtttcccttcctgtgaattgcttattcatgttctttaccagattttctgcttttttctttttcatgttgcttagcaggagatccttgcatattttagtttagttcctagggataattaagccctactgcatatgggtatgtcttatacattccctagggcatggattatatacataacaaattaacctctaagcctgtagcatgggactatttacctactgttctcagcaaagttcagaaaacactcaaattatttgctgtttttttgtttttgtttttgtttttctttttttgaggtggagtcttgctctgtcgcccagggtggagtgcagtggcgcgatcttacctcactgcaacctccctctctggggttcaagtgattctcctgcctcagctttccgggtagctgggactacatgtgtgcactacaatgcctggctaattttatcatatttttggtagagatggagtttcgccatgttggccaggctggtctcgaactcctgacctcaagtgatccacctgccttggcctcccaaagtgctgggattcaggcgtgagccaccgtgcctggccatatttgctggtttttgagattcagatgaggaacttcagttgaaaaagtctgttctagataaaaatttctagtcaatgtagatatcgccaatattttttcttagaatgtcacccacttgtggcatctagcattgaatggaaatccttgattttttaaaattacaaataaccattgattattttaaagcagtatttattaattgtagaaatttcagaaacacaaataatctaaaaaataaaagcaccaaatattcttccaggtcgtttcctgtgtgagagtatgtgtgtgtgtgtgtgtttgcttgccaaaatacaatcgtgttgtatgaaatgttttataatctgttttttgttgttgttaataattgccatctttacatgtcaataaatttttatttaatatcca

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