Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.
| RefSeq Version | NM_001109809.2, 239582721 |
| Length | 1870 bp |
| Structure | linear |
| Update Date | 21-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens zinc finger protein 57 homolog (mouse) (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). COMPLETENESS: complete on the 3' end. |
| RefSeq | NP_001103279.2 |
| CDS | 152..1762 | Exon (1) | 1..274 | Exon (2) | 1..274 | Exon (3) | 275..401 | Exon (4) | 402..503 | Exon (5) | 504..1870 |
| Translation | MFEQLKPIEPVQKTLPWVGEVAATLQEAMKRDCWREARVKKKPVTFEDVAVNFTQEEWDC
LDASQRVLYQDVMSETFKNLTSVARIFLHKPELITKLEQEEEQWREFVHLPNTEGLSEGK
KKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDRTRVLQASQAGPPFFCYTC
GKCFSRRSYLYSHQFVHNPKLTNSCSQCGKLFRSPKSLSYHRRMHLGERPFCCTLCDKTY
CDASGLSRHRRVHLGYRPHSCSVCGKSFRDQSELKRHQKIHQNQEPVDGNQECTLRIPGT
QAEFQTPIARSQRSIQGLLDVNHAPVARSQEPIFRTEGPMAQNQASVLKNQAPVTRTQAP
ITGTLCQDARSNSHPVKPSRLNVFCCPHCSLTFSKKSYLSRHQKAHLTEPPNYCFHCSKS
FSSFSRLVRHQQTHWKQKSYLCPICDLSFGEKEGLMDHWRGYKGKDLCQSSHHKCRVILG
QWLGFSHDVPTMAGEEWKHGGDQSPPRIHTPRRRGLREKACKGDKTKEAVSILKHK
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| Position | Chain | Variation | Link |
| complement(62) | - | t, c | dbSNP:56225127 |
| complement(263) | - | g, a | dbSNP:114772002 |
| complement(525) | - | t, c | dbSNP:114591600 |
| complement(710) | - | g, a | dbSNP:61730330 |
| complement(744) | - | t, c | dbSNP:9461544 |
| 894 | + | a, g | dbSNP:118204433 |
| 894 | + | a, g | dbSNP:77625743 |
| 934 | + | a, c | dbSNP:118204431 |
| complement(934) | - | t, g, a | dbSNP:61730328 |
| 980 | + | a, c | dbSNP:118204434 |
| 980 | + | a, c | dbSNP:78378398 |
| complement(1088) | - | t, c | dbSNP:61730327 |
| complement(1096) | - | t, g | dbSNP:61730329 |
| complement(1237) | - | g, a | dbSNP:61730326 |
| 1254 | + | a, t | dbSNP:2535241 |
| complement(1254) | - | t, a | dbSNP:76567230 |
| 1365 | + | c, g | dbSNP:2535242 |
| complement(1483) | - | g, a | dbSNP:59871039 |
| 1523 | + | c, g | dbSNP:79020217 |
| 1523 | + | c, g | dbSNP:118204432 |
| complement(1755) | - | t, c | dbSNP:79455213 |
| Gene Symbol | ZFP57 |
| Gene Synonym | bA145L22; bA145L22.2; C6orf40; TNDM1; ZNF698 |
| Chromosome | 6 |
| Locus Map | 6p22.1 |
| All Transcripts | NM_001109809 |
| 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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