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UniProtKB - Q9NU63 (ZFP57_HUMAN)

Protein

Zinc finger protein 57 homolog

Gene

ZFP57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000204644.9
HGNCiHGNC:18791 ZFP57
MIMi612192 gene
neXtProtiNX_Q9NU63

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs199589695Ensembl.1
Natural variantiVAR_054772193H → N in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs78378398Ensembl.1
Natural variantiVAR_054773374H → D in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs79020217Ensembl.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi346171
GeneReviewsiZFP57
MalaCardsiZFP57
MIMi601410 phenotype
OpenTargetsiENSG00000204644
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
PRIDEiQ9NU63
ProteomicsDBi82655
82656 [Q9NU63-2]
82657 [Q9NU63-3]

PTM databases

iPTMnetiQ9NU63
PhosphoSitePlusiQ9NU63

Expressioni

Gene expression databases

BgeeiENSG00000204644 Expressed in 79 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_ZFP57
ExpressionAtlasiQ9NU63 baseline and differential
GenevisibleiQ9NU63 HS

Organism-specific databases

HPAiHPA047172

Interactioni

Protein-protein interaction databases

BioGridi131375, 4 interactors
IntActiQ9NU63, 8 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9NU63
SMRiQ9NU63
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

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

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
OMAiYLYSHQF
OrthoDBiEOG091G0P6J
PhylomeDBiQ9NU63
TreeFamiTF337947

Family and domain databases

CDDicd07765 KRAB_A-box, 1 hit
InterProiView protein in InterPro
IPR001909 KRAB
IPR036051 KRAB_dom_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF01352 KRAB, 1 hit
SMARTiView protein in SMART
SM00349 KRAB, 1 hit
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF109640 SSF109640, 1 hit
SSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS50805 KRAB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A140T983A0A140T983_HUMAN
Zinc finger protein 57 homolog
ZFP57
211Annotation score:

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 dbSNP:rs9461544Ensembl.1
Natural variantiVAR_054771166R → H in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs199589695Ensembl.1
Natural variantiVAR_054772193H → N in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs78378398Ensembl.1
Natural variantiVAR_032903284D → V1 PublicationCorresponds to variant dbSNP:rs2535241Ensembl.1
Natural variantiVAR_054773374H → D in TNDM1. 1 PublicationCorresponds to variant dbSNP:rs79020217Ensembl.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
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
CCDSiCCDS43436.2 [Q9NU63-3]
RefSeqiNP_001103279.2, NM_001109809.2 [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

Similar proteinsi

Entry informationi

Entry nameiZFP57_HUMAN
AccessioniPrimary (citable) accession number: Q9NU63
Secondary accession number(s): B0S894
, B0V254, B2RXJ7, Q5SSB1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: June 26, 2007
Last modified: September 12, 2018
This is version 140 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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