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Q9NU63 (ZFP57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 57 homolog

Short name=Zfp-57
Alternative name(s):
Zinc finger protein 698
Gene names
Name:ZFP57
Synonyms:C6orf40, ZNF698
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length452 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element By similarity. Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Ref.3

Subcellular location

Nucleus By similarity. Note: Binds various differentially methylated regions (DMR), including the SNRPN DMR By similarity.

Domain

The KRAB domain is required for function as transcriptional repressor By similarity.

Zinc fingers 3 and 4 mediate recognition of the target element, ZF3 interacting with the 5' half (TGC) and ZF4 interacting with the 3' half (CGC) By similarity.

Involvement in disease

Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily.

Contains 7 C2H2-type zinc fingers.

Contains 1 KRAB domain.

Sequence caution

The sequence CAQ10094.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NU63-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NU63-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAAGEPRSLLFFQ → MFEQLKPIEPRDCWREARVKK
     78-78: E → EFVHLPNTEGLSEGKKKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDR
Isoform 3 (identifier: Q9NU63-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAAGEPRSLLFFQ → MFEQLKPIEPVQKTLPWVGEVAATLQEAMKRDCWREARVKK
     78-78: E → EFVHLPNTEGLSEGKKKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 452452Zinc finger protein 57 homolog
PRO_0000291964

Regions

Domain16 – 8873KRAB
Zinc finger91 – 11323C2H2-type 1
Zinc finger119 – 14123C2H2-type 2
Zinc finger147 – 16923C2H2-type 3
Zinc finger175 – 19723C2H2-type 4
Zinc finger300 – 32223C2H2-type 5
Zinc finger328 – 35023C2H2-type 6
Zinc finger356 – 37823C2H2-type 7; degenerate

Sites

Site1851Crucial for 5-methylcytosine recognition By similarity

Natural variations

Alternative sequence1 – 1313MAAGE…LLFFQ → MFEQLKPIEPRDCWREARVK K in isoform 2.
VSP_026329
Alternative sequence1 – 1313MAAGE…LLFFQ → MFEQLKPIEPVQKTLPWVGE VAATLQEAMKRDCWREARVK K in isoform 3.
VSP_036659
Alternative sequence781E → EFVHLPNTEGLSEGKKKELR EQHPSLRDEGTSDDKVFLAC RGAGQCPLSAPAGTMDR in isoform 2 and isoform 3.
VSP_026330
Natural variant1141N → S.
Corresponds to variant rs9461544 [ dbSNP | Ensembl ].
VAR_032902
Natural variant1661R → H in TNDM1. Ref.3
VAR_054771
Natural variant1931H → N in TNDM1. Ref.3
VAR_054772
Natural variant2841D → V. Ref.1
Corresponds to variant rs2535241 [ dbSNP | Ensembl ].
VAR_032903
Natural variant3741H → D in TNDM1. Ref.3
VAR_054773

Experimental info

Sequence conflict1511L → F in AAI57879. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 26, 2007. Version 2.
Checksum: 6B285B7FB9ABB3BA

FASTA45251,919
        10         20         30         40         50         60 
MAAGEPRSLL FFQKPVTFED VAVNFTQEEW DCLDASQRVL YQDVMSETFK NLTSVARIFL 

        70         80         90        100        110        120 
HKPELITKLE QEEEQWRETR VLQASQAGPP FFCYTCGKCF SRRSYLYSHQ FVHNPKLTNS 

       130        140        150        160        170        180 
CSQCGKLFRS PKSLSYHRRM HLGERPFCCT LCDKTYCDAS GLSRHRRVHL GYRPHSCSVC 

       190        200        210        220        230        240 
GKSFRDQSEL KRHQKIHQNQ EPVDGNQECT LRIPGTQAEF QTPIARSQRS IQGLLDVNHA 

       250        260        270        280        290        300 
PVARSQEPIF RTEGPMAQNQ ASVLKNQAPV TRTQAPITGT LCQDARSNSH PVKPSRLNVF 

       310        320        330        340        350        360 
CCPHCSLTFS KKSYLSRHQK AHLTEPPNYC FHCSKSFSSF SRLVRHQQTH WKQKSYLCPI 

       370        380        390        400        410        420 
CDLSFGEKEG LMDHWRGYKG KDLCQSSHHK CRVILGQWLG FSHDVPTMAG EEWKHGGDQS 

       430        440        450 
PPRIHTPRRR GLREKACKGD KTKEAVSILK HK 

« Hide

Isoform 2 [UniParc].

Checksum: C38B9572533B81AE
Show »

FASTA51659,176
Isoform 3 [UniParc].

Checksum: 0DB8D7F9FCCF4D67
Show »

FASTA53661,358

References

« Hide 'large scale' references
[1]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-284.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]"Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57."
Mackay D.J.G., Callaway J.L.A., 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.D., Kordonouri O., Masoud A.F., Oestergaard E., Storr J., Ellard S., Hattersley A.T., Robinson D.O., Temple I.K.
Nat. Genet. 40:949-951(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TNDM1 HIS-166; ASN-193 AND ASP-374, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL050328 Genomic DNA. Translation: CAB89275.2.
AL669813 Genomic DNA. Translation: CAI17624.2.
AL645936 Genomic DNA. Translation: CAI18028.2.
AL929591 Genomic DNA. Translation: CAI41919.2.
BX927250 Genomic DNA. Translation: CAQ10717.1.
BX120002 Genomic DNA. Translation: CAI95569.2.
CR759766 Genomic DNA. Translation: CAQ06621.1.
CR388408 Genomic DNA. Translation: CAQ08216.1.
CR936483 Genomic DNA. Translation: CAQ10094.1. Sequence problems.
BC157878 mRNA. Translation: AAI57879.1.
RefSeqNP_001103279.2. NM_001109809.2.
UniGeneHs.156326.

3D structure databases

ProteinModelPortalQ9NU63.
SMRQ9NU63. Positions 16-56, 89-433.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131375. 4 interactions.
STRING9606.ENSP00000412932.

PTM databases

PhosphoSiteQ9NU63.

Polymorphism databases

DMDM150416327.

Proteomic databases

PaxDbQ9NU63.
PRIDEQ9NU63.

Protocols and materials databases

DNASU346171.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376881; ENSP00000366078; ENSG00000204644. [Q9NU63-2]
ENST00000376883; ENSP00000366080; ENSG00000204644. [Q9NU63-2]
ENST00000383628; ENSP00000373124; ENSG00000206510. [Q9NU63-2]
ENST00000416974; ENSP00000396462; ENSG00000223858. [Q9NU63-2]
ENST00000435906; ENSP00000412932; ENSG00000226858. [Q9NU63-2]
ENST00000437216; ENSP00000398086; ENSG00000223852. [Q9NU63-2]
ENST00000446005; ENSP00000394222; ENSG00000234669. [Q9NU63-2]
ENST00000448114; ENSP00000409118; ENSG00000232099. [Q9NU63-2]
ENST00000488757; ENSP00000418259; ENSG00000204644. [Q9NU63-3]
ENST00000547542; ENSP00000447492; ENSG00000223852. [Q9NU63-2]
ENST00000548001; ENSP00000446541; ENSG00000232099. [Q9NU63-2]
ENST00000548337; ENSP00000449407; ENSG00000232099. [Q9NU63-3]
ENST00000548574; ENSP00000446798; ENSG00000223852. [Q9NU63-3]
ENST00000548769; ENSP00000448351; ENSG00000206510. [Q9NU63-3]
ENST00000549167; ENSP00000449230; ENSG00000226858. [Q9NU63-3]
ENST00000549312; ENSP00000448279; ENSG00000234669. [Q9NU63-2]
ENST00000549501; ENSP00000447698; ENSG00000226858. [Q9NU63-2]
ENST00000552809; ENSP00000450279; ENSG00000223858. [Q9NU63-3]
ENST00000552898; ENSP00000450397; ENSG00000223858. [Q9NU63-2]
ENST00000552987; ENSP00000448634; ENSG00000206510. [Q9NU63-2]
ENST00000553137; ENSP00000447495; ENSG00000234669. [Q9NU63-3]
GeneID346171.
KEGGhsa:346171.
UCSCuc011dlw.2. human. [Q9NU63-3]

Organism-specific databases

CTD346171.
GeneCardsGC06M029640.
GC06Mj29636.
GC06Mk29640.
GC06Ml29639.
GC06Mm29640.
GC06Mn29640.
GC06Mo29639.
HGNCHGNC:18791. ZFP57.
HPAHPA047172.
MIM601410. phenotype.
612192. gene.
neXtProtNX_Q9NU63.
Orphanet99886. Transient neonatal diabetes mellitus.
PharmGKBPA134937821.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267305.
HOGENOMHOG000155778.
HOVERGENHBG108764.
KOK09228.
OMALLDVNHA.
OrthoDBEOG7KM5S9.
PhylomeDBQ9NU63.
TreeFamTF337947.

Gene expression databases

BgeeQ9NU63.
CleanExHS_ZFP57.
GenevestigatorQ9NU63.

Family and domain databases

Gene3D3.30.160.60. 6 hits.
InterProIPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 7 hits.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiZFP57.
GenomeRNAi346171.
NextBio98937.
PROQ9NU63.
SOURCESearch...

Entry information

Entry nameZFP57_HUMAN
AccessionPrimary (citable) accession number: Q9NU63
Secondary accession number(s): B0S894 expand/collapse secondary AC list , B0V254, B2RXJ7, Q5SSB1
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: April 16, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM