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Homo sapiens ZFP57 zinc finger protein (ZFP57), mRNA.


RefSeq Accession Definition Services Price Order
NM_001109809 Homo sapiens ZFP57 zinc finger protein (ZFP57), mRNA. ORF Sequence $467.19
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RefSeq Version NM_001109809.2, 239582721
Length 1870 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ZFP57 zinc finger protein (ZFP57), mRNA.
Product zinc finger protein 57 homolog
Comment

Summary: The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009].


##Evidence-Data-START## Transcript exon combination :: BC157878.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025085 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001103279.2
CDS 152..1762
Misc Feature(1)281..463
Misc Feature(2)281..463
Misc Feature(3)281..397
Misc Feature(4)800..871
Misc Feature(5)887..955
Misc Feature(6)929..994
Exon (1)1..274
Gene:ZFP57
Gene Synonym:bA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698
Exon (2)275..401
Gene:ZFP57
Gene Synonym:bA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698
Exon (3)402..503
Gene:ZFP57
Gene Synonym:bA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698
Exon (4)504..1870
Gene:ZFP57
Gene Synonym:bA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698
Translation MFEQLKPIEPVQKTLPWVGEVAATLQEAMKRDCWREARVKKKPVTFEDVAVNFTQEEWDC LDASQRVLYQDVMSETFKNLTSVARIFLHKPELITKLEQEEEQWREFVHLPNTEGLSEGK KKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDRTRVLQASQAGPPFFCYTC GKCFSRRSYLYSHQFVHNPKLTNSCSQCGKLFRSPKSLSYHRRMHLGERPFCCTLCDKTY CDASGLSRHRRVHLGYRPHSCSVCGKSFRDQSELKRHQKIHQNQEPVDGNQECTLRIPGT QAEFQTPIARSQRSIQGLLDVNHAPVARSQEPIFRTEGPMAQNQASVLKNQAPVTRTQAP ITGTLCQDARSNSHPVKPSRLNVFCCPHCSLTFSKKSYLSRHQKAHLTEPPNYCFHCSKS FSSFSRLVRHQQTHWKQKSYLCPICDLSFGEKEGLMDHWRGYKGKDLCQSSHHKCRVILG QWLGFSHDVPTMAGEEWKHGGDQSPPRIHTPRRRGLREKACKGDKTKEAVSILKHK
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Position Chain Variation Link
complement(62)-dbSNP:
complement(62)-t, cdbSNP:56225127
complement(256)-t, cdbSNP:139717984
complement(263)-g, adbSNP:114772002
complement(264)-t, cdbSNP:142917604
complement(360)-dbSNP:
complement(360)-t, adbSNP:191653089
complement(372)-g, cdbSNP:186800938
complement(525)-dbSNP:
complement(525)-t, cdbSNP:114591600
complement(626)-t, adbSNP:201703858
complement(642)-t, cdbSNP:200541066
complement(683)-g, adbSNP:146835830
complement(710)-g, adbSNP:61730330
complement(744)-t, cdbSNP:9461544
complement(852)-g, adbSNP:181230141
complement(883)-g, adbSNP:190197921
894+a, gdbSNP:77625743
complement(900)-t, cdbSNP:199589695
complement(934)-t, g, adbSNP:61730328
980+a, cdbSNP:78378398
complement(994)-g, adbSNP:141297510
complement(1022)-g, cdbSNP:200369502
complement(1088)-t, cdbSNP:61730327
complement(1096)-t, gdbSNP:61730329
complement(1184)-g, cdbSNP:200537697
complement(1237)-g, adbSNP:61730326
complement(1252)-g, cdbSNP:202183128
complement(1254)-t, adbSNP:2535241
complement(1260)-g, cdbSNP:185359504
complement(1269)-g, cdbSNP:193232883
complement(1310)-g, adbSNP:144633545
complement(1365)-g, cdbSNP:2535242
complement(1483)-g, adbSNP:59871039
complement(1523)-g, cdbSNP:79020217
complement(1577)-g, adbSNP:190525528
complement(1623)-g, cdbSNP:184974475
complement(1671)-t, cdbSNP:147411133
complement(1755)-t, cdbSNP:79455213
complement(1792)-g, adbSNP:200574995
complement(1817)-g, adbSNP:149736421
Gene SymbolZFP57
Gene SynonymbA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698
Chromosome6
Locus Map6p22.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001109809 Homo sapiens ZFP57 zinc finger protein (ZFP57), mRNA. Full Length $542.30
ORF Sequence $467.19
Title No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome .
Author Boonen,S.E., Hahnemann,J.M., Mackay,D., Tommerup,N., Brondum-Nielsen,K., Tumer,Z. and Gronskov,K.
Journal Eur. J. Hum. Genet. 20 (1), 119-121 (2012)
Title Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations .
Author Spengler,S., Gogiel,M., Schonherr,N., Binder,G. and Eggermann,T.
Journal Eur J Med Genet 52 (6), 415-416 (2009)
Title High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions .
Author Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A., Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A., Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G., Harley,J.B., Gaffney,P.M. and Criswell,L.A.
Journal PLoS Genet. 5 (10), E1000696 (2009)
Title A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints .
Author Li,X., Ito,M., Zhou,F., Youngson,N., Zuo,X., Leder,P. and Ferguson-Smith,A.C.
Journal Dev. Cell 15 (4), 547-557 (2008)
Title Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 .
Author Mackay,D.J., Callaway,J.L., Marks,S.M., White,H.E., Acerini,C.L., Boonen,S.E., Dayanikli,P., Firth,H.V., Goodship,J.A., Haemers,A.P., Hahnemann,J.M., Kordonouri,O., Masoud,A.F., Oestergaard,E., Storr,J., Ellard,S., Hattersley,A.T., Robinson,D.O. and Temple,I.K.
Journal Nat. Genet. 40 (8), 949-951 (2008)
Title Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system .
Author Alonso,M.B., Zoidl,G., Taveggia,C., Bosse,F., Zoidl,C., Rahman,M., Parmantier,E., Dean,C.H., Harris,B.S., Wrabetz,L., Muller,H.W., Jessen,K.R. and Mirsky,R.
Journal J. Biol. Chem. 279 (24), 25653-25664 (2004)
Title A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation .
Author Okazaki,S., Tanase,S., Choudhury,B.K., Setoyama,K., Miura,R., Ogawa,M. and Setoyama,C.
Journal J. Biol. Chem. 269 (9), 6900-6907 (1994)

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