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