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KCQ1D_HUMAN
ID   KCQ1D_HUMAN             Reviewed;          68 AA.
AC   Q9H478;
DT   06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   25-MAY-2022, entry version 80.
DE   RecName: Full=KCNQ1 downstream neighbor protein;
DE   AltName: Full=Beckwith-Wiedemann region transcript protein;
GN   Name=KCNQ1DN; Synonyms=BWRT;
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].
RX   PubMed=11063728; DOI=10.1093/hmg/9.18.2691;
RA   Engemann S., Stroedicke M., Paulsen M., Franck O., Reinhardt R., Lane N.,
RA   Reik W., Walter J.;
RT   "Sequence and functional comparison in the Beckwith-Wiedemann region:
RT   implications for a novel imprinting centre and extended imprinting.";
RL   Hum. Mol. Genet. 9:2691-2706(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX   PubMed=11056398; DOI=10.1093/oxfordjournals.jbchem.a022823;
RA   Xin Z., Soejima H., Higashimoto K., Yatsuki H., Zhu X., Satoh Y.,
RA   Masaki Z., Kaneko Y., Jinno Y., Fukuzawa R., Hata J., Mukai T.;
RT   "A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human
RT   chromosome 11p15.5 and its reduced expression in Wilms' tumors.";
RL   J. Biochem. 128:847-853(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC   -!- TISSUE SPECIFICITY: Shows reduced expression in Wilms' tumor samples.
CC       {ECO:0000269|PubMed:11056398}.
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DR   EMBL; AJ404617; CAB95125.2; -; mRNA.
DR   EMBL; AB039920; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AC013791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC098159; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC098256; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC098319; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC098344; -; NOT_ANNOTATED_CDS; mRNA.
DR   AlphaFoldDB; Q9H478; -.
DR   IntAct; Q9H478; 1.
DR   BioMuta; HGNC:13335; -.
DR   PRIDE; Q9H478; -.
DR   UCSC; uc058jkc.1; human.
DR   GeneCards; KCNQ1DN; -.
DR   HGNC; HGNC:13335; KCNQ1DN.
DR   MIM; 610980; gene.
DR   neXtProt; NX_Q9H478; -.
DR   InParanoid; Q9H478; -.
DR   PathwayCommons; Q9H478; -.
DR   ChiTaRS; KCNQ1DN; human.
DR   Pharos; Q9H478; Tdark.
DR   PRO; PR:Q9H478; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q9H478; protein.
PE   2: Evidence at transcript level;
KW   Reference proteome.
FT   CHAIN           1..68
FT                   /note="KCNQ1 downstream neighbor protein"
FT                   /id="PRO_0000076228"
FT   REGION          28..68
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        51..68
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   68 AA;  7384 MW;  1F4F8A1C68FA14C1 CRC64;
     MGRKWSGPTA EHQLPMPPPG VRLDSWKGVA SGCSPSKASQ EARGKEKCPT LNGQPQWSAL
     FTLPPQRE
 
 
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