LOCUS NM_001319295 4085 bp mRNA linear PRI 04-APR-2024
DEFINITION Homo sapiens potassium channel tetramerization domain containing 3
(KCTD3), transcript variant 3, mRNA.
ACCESSION NM_001319295
VERSION NM_001319295.2
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 4085)
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 (bases 1 to 4085)
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 (bases 1 to 4085)
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 (bases 1 to 4085)
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 (bases 1 to 4085)
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 (bases 1 to 4085)
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,
BC143963.1, BC094879.1 and CK902987.1.
On May 31, 2019 this sequence version replaced NM_001319295.1.
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 (3) differs in the 5' UTR, lacks a
portion of the 5' coding region and uses an alternate start codon,
compared to variant 1. It encodes isoform 3, which has a shorter
and distinct C-terminus, compared to isoform 1.
##Evidence-Data-START##
CDS exon combination :: SRR1803611.55845.1 [ECO:0000331]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-75 AL365315.8 48758-48832
76-193 HY029594.1 2-119
194-979 BC143963.1 1-786
980-3843 BC094879.1 782-3645
3844-4085 CK902987.1 24-265 c
FEATURES Location/Qualifiers
source 1..4085
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q41"
gene 1..4085
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="potassium channel tetramerization domain containing
3"
/db_xref="GeneID:51133"
/db_xref="HGNC:HGNC:21305"
/db_xref="MIM:613272"
exon 1..465
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 466..519
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 520..565
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 566..639
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 640..698
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 699..851
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
misc_feature 743..745
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="upstream in-frame stop codon"
CDS 761..2896
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="isoform 3 is encoded by transcript variant 3;
NY-REN-45 antigen; BTB/POZ domain-containing protein
KCTD3; renal carcinoma antigen NY-REN-45; potassium
channel tetramerisation domain containing 3"
/codon_start=1
/product="BTB/POZ domain-containing protein KCTD3 isoform
3"
/protein_id="NP_001306224.1"
/db_xref="GeneID:51133"
/db_xref="HGNC:HGNC:21305"
/db_xref="MIM:613272"
/translation="MFLVRRLLLCEELERSSCGSVLFHGYLPPPGIPSRKINNTVRSA
DSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGFPVDPRKVLIVAGHHNWIVAAYAHF
AVCYRIKESSGWQQVFTSPYLDWTIERVALNAKVVGGPHGDKDKMVAVASESSIILWS
VQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKVGVWNAVTQHWQVQDVVPITS
YDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELYHDPSNDAITALSVYLTPK
TSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVHRSPVTKIMLSEKHLVS
VCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHGSYSSGNDIGPFGER
DDQQVFIQKVVPITNKLFVRLSSTGKRICEIQAVDCTTISSFTVRECEGSSRMGSRPR
RYLFTGHTNGSIQMWDLTTAMDMVNKSEDKGGPTEEELLKLLDQCDLSTSRCATPNIS
PATSVVQHSHLRESNSSLQLQHHDTTHEAATYGSMRPYRESPLLARARRTESFHSYRD
FQTINLNRNVERAVPENGNLGPIQAEVKGATGECNISERKSPGVEIKSLRELDSGLEV
HKIAEGFSESKKRSSEDENENKIEFRKKGGFEGGGFLGRKKVPYLASSPSTSDGGTDS
PGTASPSPTKTTPSPRHKKSDSSGQEYSL"
exon 852..989
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 990..1080
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1081..1271
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1272..1387
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1388..1475
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1476..1592
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1593..1763
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1764..1919
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 1920..2016
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 2017..2201
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 2202..2334
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
exon 2335..4085
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/inference="alignment:Splign:2.1.0"
regulatory 3990..3995
/regulatory_class="polyA_signal_sequence"
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="hexamer: AATAAA"
polyA_site 4009
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="major polyA site"
regulatory 4057..4062
/regulatory_class="polyA_signal_sequence"
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="hexamer: ATTAAA"
regulatory 4066..4071
/regulatory_class="polyA_signal_sequence"
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="hexamer: AATAAA"
polyA_site 4076
/gene="KCTD3"
/gene_synonym="NY-REN-45"
polyA_site 4085
/gene="KCTD3"
/gene_synonym="NY-REN-45"
/note="major polyA site"
ORIGIN
1 attctaggcg gcagtggcgg gcgaagcgtg agcgctgcgg tattttgtcc cgaacggtga
61 cccctcctcc caggcaggct gcggcggcgt cggtggcagc ggagcacgga gaagaggccc
121 gggcggcccg gcggcctgga ggccgcgaaa ggtggaggcc gggccgccct tgtgcaccgc
181 aggattgacc cgggaagggg cagaagctag cgagccccgc ccggccgccg ggaaggtggg
241 ggaagccccg tgcacccccc gccctccggc cgccgccgcc ccgctggccc tgcagccgtc
301 gccgctgcct cgggctacag ccccgggctc ggcggtcccg gctggggaag gagggcggcg
361 agcgcgtccg gagccgccgg agatggcggg agggcactgc ggcagcttcc ccgcggcggc
421 ggccggcagc ggcgagatcg tccaactgaa cgtagggggg accagattta gtacctcaag
481 acaaactctt atgtggattc cagattcttt tttttccagt ttgctgagtg ggagaatttc
541 aacacttcga gatgaaactg gtgctatatt tattgataga gatccagcag catttgcacc
601 cattttaaat tttcttcgga caaaagaact agacttaagg ggagtgagta ttaatgttct
661 caggcatgaa gcagaatttt acgggatcac tccattagag aaaataaaaa tggagtactg
721 tttttctgtt tgcatgtact cttgacaagt ttgctttgaa atgtttttag taagaaggct
781 tctcttatgt gaagaattgg agcgttcctc ttgtggcagt gtcctttttc atggttactt
841 gcccccacca ggtattccta gtcgtaaaat aaacaacaca gtcagatctg ctgattctag
901 gaatggtcta aattctacag aaggtgaagc ccggggaaat ggtacacagc ctgttctctc
961 tggaacggga gaagaaactg ttaggctagg atttcctgtg gatccacgaa aggtgctaat
1021 agtagctggc catcacaact ggattgtagc tgcatatgcc cattttgctg tgtgttacag
1081 aatcaaagaa tcttcaggat ggcagcaagt gtttacgagc ccatatttgg attggactat
1141 cgaacgagta gctttaaatg caaaggtggt tggagggcca catggagaca aagacaaaat
1201 ggttgctgtt gcctcagaga gtagcatcat cttgtggagt gttcaggatg ggggaagtgg
1261 aagtgaaatt ggagtgttca gcctgggtgt tcctgtagat gctctcttct ttattggtaa
1321 ccagttggtg gccacgagtc atacagggaa agtgggagtg tggaatgctg tcactcagca
1381 ctggcaggtt caagatgttg ttcctataac tagttatgac actgctggat cattccttct
1441 gcttggatgt aacaatggat caatatatta catagatatg cagaagttcc ccttgcgaat
1501 gaaagataat gatcttcttg taactgaact gtatcatgat ccttcaaatg atgctattac
1561 tgctctgagt gtttacctca cacccaaaac aagtgtcagt ggtaactgga tcgagatcgc
1621 ctatggtacg agctctggag cagtacgagt gattgtacaa cacccagaga cagttgggtc
1681 aggtcctcag ctttttcaga ctttcacagt tcaccgaagt cccgtaacaa aaatcatgct
1741 atcagagaag catcttgtat cagtctgtgc agataataat catgtccgga cgtggacagt
1801 aacacgattc agaggaatga tctctactca gccaggttct actcctttag cgtcattcaa
1861 gatactatcc ctggaggaga cagaaagtca tggtagctat tcctctggaa atgacatagg
1921 accttttgga gagcgagacg atcaacaggt gtttatccag aaagttgttc ccatcaccaa
1981 caaactattt gtaagactct catcgactgg aaaaagaata tgtgagatcc aggctgttga
2041 ctgtactaca atatcctcat ttacagtgag ggaatgtgag ggatccagta ggatgggctc
2101 aagaccaagg cgctacttgt tcacaggcca tacaaatggc agtattcaaa tgtgggatct
2161 gaccactgct atggatatgg ttaacaaaag tgaagataag ggtggtccaa ccgaagaaga
2221 gctactcaaa ttactcgatc aatgtgattt gagcacatct cgctgtgcta ctcctaacat
2281 cagtccagca acttccgtag ttcagcatag ccacttacga gaatcaaatt ctagccttca
2341 gcttcagcac catgatacca cccatgaagc agctacttac ggttccatga ggccttacag
2401 agaaagtcct ttattagcaa gggcaagaag gactgagagc tttcacagtt atagggactt
2461 ccagactatt aatttgaaca gaaatgtaga aagagctgtc cctgaaaatg gtaacttggg
2521 tccaatacaa gctgaagtga aaggggcaac aggggaatgt aatatatctg agagaaagtc
2581 tcctggagta gaaataaaaa gtttgagaga attggatagt ggattggaag tgcataaaat
2641 agctgaaggt ttttcagaat ccaagaaaag gtcatcagaa gatgaaaatg aaaataaaat
2701 agagtttagg aagaaaggag gatttgaagg gggaggattc cttggaagaa agaaagttcc
2761 ctatctggcg tcatcaccaa gtacttccga tggaggaact gactcacctg gtactgcgtc
2821 cccatctcct acaaagacta ctccatctcc tcggcataaa aaaagtgatt cttcaggtca
2881 ggagtacagc ttgtgaaaac tcaccaaaat gaatagttgt ttcgttacat ttagatgaaa
2941 gttaaacttt actgaatttc agtacattag tttttacact aaaactttac aagataaaat
3001 tggacttcat ttagtatctt tttaacagaa ttacttggaa taatgagata caataatcat
3061 atctcttttg acattttgga aattttttta attttacaag tacatttaac agatcattta
3121 taaagcagga gtccatttta acacttaccg actttttttg gtttggaaac atattaccac
3181 gtcttaatag gatggtgccc atataggtga gcatcccttt agatcatggg aaccagcaga
3241 ctgcattcct aatcttcatt atgcctgaga cttgtcttac aatgttacct ttaagtgaat
3301 cacataattg tctttggaac ttggtctccc aacacttatt gtgattgcaa agtgtttacc
3361 agatatttga tgaggtgcta tgtttgtgaa aaacatatca tgtaattcaa aaacactatt
3421 gatattgaat accagatacc actatgtagt aagtctttta ggatgatttt aatttagtcg
3481 tgcgtcattt tctgattctc atcattggga gatcttaaat cttagcaagc attagcaata
3541 ttaaatgcca aaattccatt gaaactttca agttggagca attgtctgtg tttgaaaaga
3601 tgaaataaaa ataataatca agggcaaagc tttgagtgcc cagaagggaa agctgtacca
3661 gttgctaacc tgtcttgttt caggagccac catgtttttt tttcagtgtt aacaacaatc
3721 atgataatta aattaaaaca ctagtttgtt cacttgtagg actgcagttc tgaattttgg
3781 gttaaaggtt ttggctgctg taagaatgtg aatttgaatg tattttgaat tgtaagagca
3841 aaagaacgtt tttgtacaat tttttttcat ttaattggaa tgatcttcag gtttctacaa
3901 atagggtaat tgtaaattta aagcattagc atttattggt gaataatgta tatatcccca
3961 ttccaagaaa tataagtgag tgaagttgaa ataaaatctt taaaatttac tatattgcca
4021 gtggtttcac aacagttctc ttgtatttat ttatcaatta aatcaaataa aaatgattat
4081 gtcaa
//