UniProtKB - Q9NU63 (ZFP57_HUMAN)
Protein
Zinc finger protein 57 homolog
Gene
ZFP57
Organism
Homo sapiens (Human)
Status
Functioni
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 (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity).By similarity2 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 185 | Crucial for 5-methylcytosine recognitionBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 91 – 113 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 119 – 141 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 147 – 169 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 175 – 197 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 300 – 322 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 328 – 350 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 356 – 378 | C2H2-type 7; degeneratePROSITE-ProRule annotationAdd BLAST | 23 |
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- DNA methylation involved in embryo development Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of gene expression by genetic imprinting Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9NU63 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger protein 57 homologCuratedShort name: Zfp-57 Alternative name(s): Zinc finger protein 698 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000204644.9 |
HGNCi | HGNC:18791, ZFP57 |
MIMi | 612192, gene |
neXtProti | NX_Q9NU63 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Note: Binds various differentially methylated regions (DMR).1 Publication
Nucleus
- nuclear chromatin Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Diabetes mellitus, transient neonatal, 1 (TNDM1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054771 | 166 | R → H in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs199589695Ensembl. | 1 | |
Natural variantiVAR_054772 | 193 | H → N in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs78378398Ensembl. | 1 | |
Natural variantiVAR_054773 | 374 | H → D in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs79020217Ensembl. | 1 |
Keywords - Diseasei
Diabetes mellitus, Disease mutationOrganism-specific databases
DisGeNETi | 346171 |
GeneReviewsi | ZFP57 |
MalaCardsi | ZFP57 |
MIMi | 601410, phenotype |
OpenTargetsi | ENSG00000204644 |
Orphaneti | 99886, Transient neonatal diabetes mellitus |
PharmGKBi | PA134937821 |
Miscellaneous databases
Pharosi | Q9NU63, Tbio |
Polymorphism and mutation databases
BioMutai | ZFP57 |
DMDMi | 150416327 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000291964 | 1 – 452 | Zinc finger protein 57 homologAdd BLAST | 452 |
Proteomic databases
MaxQBi | Q9NU63 |
PeptideAtlasi | Q9NU63 |
PRIDEi | Q9NU63 |
ProteomicsDBi | 82655 [Q9NU63-1] 82656 [Q9NU63-2] 82657 [Q9NU63-3] |
PTM databases
iPTMneti | Q9NU63 |
PhosphoSitePlusi | Q9NU63 |
Expressioni
Developmental stagei
In contrast to mice, transcripts are undetectable in the oocyte and during the earliest stages of embryonic development, increasing only after zygotic genome activation.1 Publication
Gene expression databases
Bgeei | ENSG00000204644, Expressed in C1 segment of cervical spinal cord and 104 other tissues |
ExpressionAtlasi | Q9NU63, baseline and differential |
Genevisiblei | Q9NU63, HS |
Organism-specific databases
HPAi | ENSG00000204644, Tissue enhanced (brain, heart muscle) |
Interactioni
Binary interactionsi
Hide detailsIsoform 3 [Q9NU63-3]
Protein-protein interaction databases
BioGRIDi | 131375, 12 interactors |
IntActi | Q9NU63, 8 interactors |
Miscellaneous databases
RNActi | Q9NU63, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 16 – 88 | KRABPROSITE-ProRule annotationAdd BLAST | 73 |
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
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 91 – 113 | C2H2-type 1PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 119 – 141 | C2H2-type 2PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 147 – 169 | C2H2-type 3PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 175 – 197 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 300 – 322 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 328 – 350 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 356 – 378 | C2H2-type 7; degeneratePROSITE-ProRule annotationAdd BLAST | 23 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
GeneTreei | ENSGT00390000002599 |
HOGENOMi | CLU_002678_0_7_1 |
InParanoidi | Q9NU63 |
OMAi | FFQKPVT |
OrthoDBi | 1551203at2759 |
PhylomeDBi | Q9NU63 |
TreeFami | TF337947 |
Family and domain databases
CDDi | cd07765, KRAB_A-box, 1 hit |
InterProi | View protein in InterPro IPR001909, KRAB IPR036051, KRAB_dom_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF01352, KRAB, 1 hit PF00096, zf-C2H2, 4 hits |
SMARTi | View protein in SMART SM00349, KRAB, 1 hit SM00355, ZnF_C2H2, 7 hits |
SUPFAMi | SSF109640, SSF109640, 1 hit SSF57667, SSF57667, 4 hits |
PROSITEi | View protein in PROSITE PS50805, KRAB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 7 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NU63-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A140T983 | A0A140T983_HUMAN | Zinc finger protein 57 homolog | ZFP57 | 211 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 151 | L → F in AAI57879 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032902 | 114 | N → S. Corresponds to variant dbSNP:rs9461544Ensembl. | 1 | |
Natural variantiVAR_054771 | 166 | R → H in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs199589695Ensembl. | 1 | |
Natural variantiVAR_054772 | 193 | H → N in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs78378398Ensembl. | 1 | |
Natural variantiVAR_032903 | 284 | D → V1 PublicationCorresponds to variant dbSNP:rs2535241Ensembl. | 1 | |
Natural variantiVAR_054773 | 374 | H → D in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs79020217Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026329 | 1 – 13 | MAAGE…LLFFQ → MFEQLKPIEPRDCWREARVK K in isoform 2. CuratedAdd BLAST | 13 | |
Alternative sequenceiVSP_036659 | 1 – 13 | MAAGE…LLFFQ → MFEQLKPIEPVQKTLPWVGE VAATLQEAMKRDCWREARVK K in isoform 3. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_026330 | 78 | E → EFVHLPNTEGLSEGKKKELR EQHPSLRDEGTSDDKVFLAC RGAGQCPLSAPAGTMDR in isoform 2 and isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL050328 Genomic DNA Translation: CAB89275.2 AL645936 Genomic DNA No translation available. AL669813 Genomic DNA No translation available. AL929591 Genomic DNA No translation available. BX120002 Genomic DNA No translation available. BX927250 Genomic DNA No translation available. CR388408 Genomic DNA No translation available. CR759766 Genomic DNA No translation available. CR936483 Genomic DNA No translation available. BC157878 mRNA Translation: AAI57879.1 |
CCDSi | CCDS43436.2 [Q9NU63-3] |
RefSeqi | NP_001103279.2, NM_001109809.2 [Q9NU63-3] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL050328 Genomic DNA Translation: CAB89275.2 AL645936 Genomic DNA No translation available. AL669813 Genomic DNA No translation available. AL929591 Genomic DNA No translation available. BX120002 Genomic DNA No translation available. BX927250 Genomic DNA No translation available. CR388408 Genomic DNA No translation available. CR759766 Genomic DNA No translation available. CR936483 Genomic DNA No translation available. BC157878 mRNA Translation: AAI57879.1 |
CCDSi | CCDS43436.2 [Q9NU63-3] |
RefSeqi | NP_001103279.2, NM_001109809.2 [Q9NU63-3] |
3D structure databases
SMRi | Q9NU63 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 131375, 12 interactors |
IntActi | Q9NU63, 8 interactors |
PTM databases
iPTMneti | Q9NU63 |
PhosphoSitePlusi | Q9NU63 |
Polymorphism and mutation databases
BioMutai | ZFP57 |
DMDMi | 150416327 |
Proteomic databases
MaxQBi | Q9NU63 |
PeptideAtlasi | Q9NU63 |
PRIDEi | Q9NU63 |
ProteomicsDBi | 82655 [Q9NU63-1] 82656 [Q9NU63-2] 82657 [Q9NU63-3] |
Protocols and materials databases
Antibodypediai | 26080, 212 antibodies |
DNASUi | 346171 |
Genome annotation databases
Organism-specific databases
CTDi | 346171 |
DisGeNETi | 346171 |
EuPathDBi | HostDB:ENSG00000204644.9 |
GeneCardsi | ZFP57 |
GeneReviewsi | ZFP57 |
HGNCi | HGNC:18791, ZFP57 |
HPAi | ENSG00000204644, Tissue enhanced (brain, heart muscle) |
MalaCardsi | ZFP57 |
MIMi | 601410, phenotype 612192, gene |
neXtProti | NX_Q9NU63 |
OpenTargetsi | ENSG00000204644 |
Orphaneti | 99886, Transient neonatal diabetes mellitus |
PharmGKBi | PA134937821 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00390000002599 |
HOGENOMi | CLU_002678_0_7_1 |
InParanoidi | Q9NU63 |
OMAi | FFQKPVT |
OrthoDBi | 1551203at2759 |
PhylomeDBi | Q9NU63 |
TreeFami | TF337947 |
Enzyme and pathway databases
PathwayCommonsi | Q9NU63 |
Miscellaneous databases
BioGRID-ORCSi | 346171, 22 hits in 862 CRISPR screens |
GeneWikii | ZFP57 |
GenomeRNAii | 346171 |
Pharosi | Q9NU63, Tbio |
PROi | PR:Q9NU63 |
RNActi | Q9NU63, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204644, Expressed in C1 segment of cervical spinal cord and 104 other tissues |
ExpressionAtlasi | Q9NU63, baseline and differential |
Genevisiblei | Q9NU63, HS |
Family and domain databases
CDDi | cd07765, KRAB_A-box, 1 hit |
InterProi | View protein in InterPro IPR001909, KRAB IPR036051, KRAB_dom_sf IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF01352, KRAB, 1 hit PF00096, zf-C2H2, 4 hits |
SMARTi | View protein in SMART SM00349, KRAB, 1 hit SM00355, ZnF_C2H2, 7 hits |
SUPFAMi | SSF109640, SSF109640, 1 hit SSF57667, SSF57667, 4 hits |
PROSITEi | View protein in PROSITE PS50805, KRAB, 1 hit PS00028, ZINC_FINGER_C2H2_1, 6 hits PS50157, ZINC_FINGER_C2H2_2, 7 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ZFP57_HUMAN | |
Accessioni | Q9NU63Primary (citable) accession number: Q9NU63 Secondary accession number(s): B0S894 Q5SSB1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 26, 2007 |
Last sequence update: | June 26, 2007 | |
Last modified: | December 2, 2020 | |
This is version 156 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations