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Protein

Zinc finger protein 57 homolog

Gene

ZFP57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei185Crucial for 5-methylcytosine recognitionBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri91 – 113C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri119 – 141C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri147 – 169C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri175 – 197C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri300 – 322C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri328 – 350C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri356 – 378C2H2-type 7; degeneratePROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

  • DNA methylation involved in embryo development Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • regulation of gene expression by genetic imprinting Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:G66-31305-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 57 homolog
Short name:
Zfp-57
Alternative name(s):
Zinc finger protein 698
Gene namesi
Name:ZFP57
Synonyms:C6orf40, ZNF698
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:18791. ZFP57.

Subcellular locationi

  • Nucleus By similarity

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Transient neonatal diabetes mellitus 1 (TNDM1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionNeonatal 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.
See also OMIM:601410
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054771166R → H in TNDM1. 1 PublicationCorresponds to variant rs199589695dbSNPEnsembl.1
Natural variantiVAR_054772193H → N in TNDM1. 1 PublicationCorresponds to variant rs78378398dbSNPEnsembl.1
Natural variantiVAR_054773374H → D in TNDM1. 1 PublicationCorresponds to variant rs79020217dbSNPEnsembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi346171.
MalaCardsiZFP57.
MIMi601410. phenotype.
OpenTargetsiENSG00000204644.
ENSG00000206510.
ENSG00000223852.
ENSG00000223858.
ENSG00000226858.
ENSG00000232099.
ENSG00000234669.
Orphaneti99886. Transient neonatal diabetes mellitus.
PharmGKBiPA134937821.

Polymorphism and mutation databases

BioMutaiZFP57.
DMDMi150416327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002919641 – 452Zinc finger protein 57 homologAdd BLAST452

Proteomic databases

MaxQBiQ9NU63.
PeptideAtlasiQ9NU63.
PRIDEiQ9NU63.

PTM databases

iPTMnetiQ9NU63.
PhosphoSitePlusiQ9NU63.

Expressioni

Gene expression databases

BgeeiENSG00000204644.
CleanExiHS_ZFP57.
GenevisibleiQ9NU63. HS.

Organism-specific databases

HPAiHPA047172.

Interactioni

Protein-protein interaction databases

BioGridi131375. 4 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ9NU63.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 88KRABPROSITE-ProRule annotationAdd BLAST73

Domaini

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

Sequence similaritiesi

Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri91 – 113C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri119 – 141C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri147 – 169C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri175 – 197C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri300 – 322C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri328 – 350C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri356 – 378C2H2-type 7; degeneratePROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

GeneTreeiENSGT00390000002599.
HOGENOMiHOG000155778.
HOVERGENiHBG108764.
InParanoidiQ9NU63.
KOiK09228.
OMAiCWAILGQ.
OrthoDBiEOG091G0P6J.
PhylomeDBiQ9NU63.
TreeFamiTF337947.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 7 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 7 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NU63-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAGEPRSLL FFQKPVTFED VAVNFTQEEW DCLDASQRVL YQDVMSETFK
60 70 80 90 100
NLTSVARIFL HKPELITKLE QEEEQWRETR VLQASQAGPP FFCYTCGKCF
110 120 130 140 150
SRRSYLYSHQ FVHNPKLTNS CSQCGKLFRS PKSLSYHRRM HLGERPFCCT
160 170 180 190 200
LCDKTYCDAS GLSRHRRVHL GYRPHSCSVC GKSFRDQSEL KRHQKIHQNQ
210 220 230 240 250
EPVDGNQECT LRIPGTQAEF QTPIARSQRS IQGLLDVNHA PVARSQEPIF
260 270 280 290 300
RTEGPMAQNQ ASVLKNQAPV TRTQAPITGT LCQDARSNSH PVKPSRLNVF
310 320 330 340 350
CCPHCSLTFS KKSYLSRHQK AHLTEPPNYC FHCSKSFSSF SRLVRHQQTH
360 370 380 390 400
WKQKSYLCPI CDLSFGEKEG LMDHWRGYKG KDLCQSSHHK CRVILGQWLG
410 420 430 440 450
FSHDVPTMAG EEWKHGGDQS PPRIHTPRRR GLREKACKGD KTKEAVSILK

HK
Length:452
Mass (Da):51,919
Last modified:June 26, 2007 - v2
Checksum:i6B285B7FB9ABB3BA
GO
Isoform 2 (identifier: Q9NU63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAAGEPRSLLFFQ → MFEQLKPIEPRDCWREARVKK
     78-78: E → EFVHLPNTEGLSEGKKKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDR

Show »
Length:516
Mass (Da):59,176
Checksum:iC38B9572533B81AE
GO
Isoform 3 (identifier: Q9NU63-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:536
Mass (Da):61,358
Checksum:i0DB8D7F9FCCF4D67
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti151L → F in AAI57879 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032902114N → S.Corresponds to variant rs9461544dbSNPEnsembl.1
Natural variantiVAR_054771166R → H in TNDM1. 1 PublicationCorresponds to variant rs199589695dbSNPEnsembl.1
Natural variantiVAR_054772193H → N in TNDM1. 1 PublicationCorresponds to variant rs78378398dbSNPEnsembl.1
Natural variantiVAR_032903284D → V.1 PublicationCorresponds to variant rs2535241dbSNPEnsembl.1
Natural variantiVAR_054773374H → D in TNDM1. 1 PublicationCorresponds to variant rs79020217dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0263291 – 13MAAGE…LLFFQ → MFEQLKPIEPRDCWREARVK K in isoform 2. CuratedAdd BLAST13
Alternative sequenceiVSP_0366591 – 13MAAGE…LLFFQ → MFEQLKPIEPVQKTLPWVGE VAATLQEAMKRDCWREARVK K in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_02633078E → EFVHLPNTEGLSEGKKKELR EQHPSLRDEGTSDDKVFLAC RGAGQCPLSAPAGTMDR in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43436.2. [Q9NU63-3]
RefSeqiNP_001103279.2. NM_001109809.2. [Q9NU63-3]
XP_011512872.1. XM_011514570.2. [Q9NU63-3]
UniGeneiHs.156326.

Genome annotation databases

EnsembliENST00000376881; ENSP00000366078; ENSG00000204644. [Q9NU63-1]
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. [Q9NU63-1]
ENST00000547911; ENSP00000449556; ENSG00000234669. [Q9NU63-1]
ENST00000548001; ENSP00000446541; ENSG00000232099. [Q9NU63-1]
ENST00000548337; ENSP00000449407; ENSG00000232099. [Q9NU63-3]
ENST00000548574; ENSP00000446798; ENSG00000223852. [Q9NU63-3]
ENST00000548769; ENSP00000448351; ENSG00000206510. [Q9NU63-3]
ENST00000549167; ENSP00000449230; ENSG00000226858. [Q9NU63-3]
ENST00000549501; ENSP00000447698; ENSG00000226858. [Q9NU63-1]
ENST00000552809; ENSP00000450279; ENSG00000223858. [Q9NU63-3]
ENST00000552898; ENSP00000450397; ENSG00000223858. [Q9NU63-1]
ENST00000552987; ENSP00000448634; ENSG00000206510. [Q9NU63-1]
ENST00000553137; ENSP00000447495; ENSG00000234669. [Q9NU63-3]
GeneIDi346171.
KEGGihsa:346171.
UCSCiuc011dlw.2. human. [Q9NU63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43436.2. [Q9NU63-3]
RefSeqiNP_001103279.2. NM_001109809.2. [Q9NU63-3]
XP_011512872.1. XM_011514570.2. [Q9NU63-3]
UniGeneiHs.156326.

3D structure databases

ProteinModelPortaliQ9NU63.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131375. 4 interactors.

PTM databases

iPTMnetiQ9NU63.
PhosphoSitePlusiQ9NU63.

Polymorphism and mutation databases

BioMutaiZFP57.
DMDMi150416327.

Proteomic databases

MaxQBiQ9NU63.
PeptideAtlasiQ9NU63.
PRIDEiQ9NU63.

Protocols and materials databases

DNASUi346171.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376881; ENSP00000366078; ENSG00000204644. [Q9NU63-1]
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. [Q9NU63-1]
ENST00000547911; ENSP00000449556; ENSG00000234669. [Q9NU63-1]
ENST00000548001; ENSP00000446541; ENSG00000232099. [Q9NU63-1]
ENST00000548337; ENSP00000449407; ENSG00000232099. [Q9NU63-3]
ENST00000548574; ENSP00000446798; ENSG00000223852. [Q9NU63-3]
ENST00000548769; ENSP00000448351; ENSG00000206510. [Q9NU63-3]
ENST00000549167; ENSP00000449230; ENSG00000226858. [Q9NU63-3]
ENST00000549501; ENSP00000447698; ENSG00000226858. [Q9NU63-1]
ENST00000552809; ENSP00000450279; ENSG00000223858. [Q9NU63-3]
ENST00000552898; ENSP00000450397; ENSG00000223858. [Q9NU63-1]
ENST00000552987; ENSP00000448634; ENSG00000206510. [Q9NU63-1]
ENST00000553137; ENSP00000447495; ENSG00000234669. [Q9NU63-3]
GeneIDi346171.
KEGGihsa:346171.
UCSCiuc011dlw.2. human. [Q9NU63-1]

Organism-specific databases

CTDi346171.
DisGeNETi346171.
GeneCardsiZFP57.
GeneReviewsiZFP57.
HGNCiHGNC:18791. ZFP57.
HPAiHPA047172.
MalaCardsiZFP57.
MIMi601410. phenotype.
612192. gene.
neXtProtiNX_Q9NU63.
OpenTargetsiENSG00000204644.
ENSG00000206510.
ENSG00000223852.
ENSG00000223858.
ENSG00000226858.
ENSG00000232099.
ENSG00000234669.
Orphaneti99886. Transient neonatal diabetes mellitus.
PharmGKBiPA134937821.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000002599.
HOGENOMiHOG000155778.
HOVERGENiHBG108764.
InParanoidiQ9NU63.
KOiK09228.
OMAiCWAILGQ.
OrthoDBiEOG091G0P6J.
PhylomeDBiQ9NU63.
TreeFamiTF337947.

Enzyme and pathway databases

BioCyciZFISH:G66-31305-MONOMER.

Miscellaneous databases

GeneWikiiZFP57.
GenomeRNAii346171.
PROiQ9NU63.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204644.
CleanExiHS_ZFP57.
GenevisibleiQ9NU63. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 7 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 7 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 6 hits.
PS50157. ZINC_FINGER_C2H2_2. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZFP57_HUMAN
AccessioniPrimary (citable) accession number: Q9NU63
Secondary accession number(s): B0S894
, B0V254, B2RXJ7, Q5SSB1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: November 30, 2016
This is version 123 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.