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Entry version 156 (02 Dec 2020)
Sequence version 2 (26 Jun 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei185Crucial for 5-methylcytosine recognitionBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NU63

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein 57 homologCurated
Short name:
Zfp-57
Alternative name(s):
Zinc finger protein 698
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ZFP57Imported
Synonyms:C6orf40, ZNF698
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000204644.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18791, ZFP57

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612192, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NU63

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
346171

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ZFP57

MalaCards human disease database

More...
MalaCardsi
ZFP57
MIMi601410, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000204644

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99886, Transient neonatal diabetes mellitus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134937821

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NU63, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ZFP57

Domain mapping of disease mutations (DMDM)

More...
DMDMi
150416327

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002919641 – 452Zinc finger protein 57 homologAdd BLAST452

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NU63

PeptideAtlas

More...
PeptideAtlasi
Q9NU63

PRoteomics IDEntifications database

More...
PRIDEi
Q9NU63

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82655 [Q9NU63-1]
82656 [Q9NU63-2]
82657 [Q9NU63-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NU63

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NU63

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204644, Expressed in C1 segment of cervical spinal cord and 104 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NU63, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NU63, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000204644, Tissue enhanced (brain, heart muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
131375, 12 interactors

Protein interaction database and analysis system

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IntActi
Q9NU63, 8 interactors

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NU63, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NU63

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 88KRABPROSITE-ProRule annotationAdd BLAST73

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002599

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002678_0_7_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NU63

Identification of Orthologs from Complete Genome Data

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OMAi
FFQKPVT

Database of Orthologous Groups

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OrthoDBi
1551203at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NU63

TreeFam database of animal gene trees

More...
TreeFami
TF337947

Family and domain databases

Conserved Domains Database

More...
CDDi
cd07765, KRAB_A-box, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001909, KRAB
IPR036051, KRAB_dom_sf
IPR036236, Znf_C2H2_sf
IPR013087, Znf_C2H2_type

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01352, KRAB, 1 hit
PF00096, zf-C2H2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00349, KRAB, 1 hit
SM00355, ZnF_C2H2, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF109640, SSF109640, 1 hit
SSF57667, SSF57667, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50805, KRAB, 1 hit
PS00028, ZINC_FINGER_C2H2_1, 6 hits
PS50157, ZINC_FINGER_C2H2_2, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43436.2 [Q9NU63-3]

NCBI Reference Sequences

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RefSeqi
NP_001103279.2, NM_001109809.2 [Q9NU63-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000376881; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
346171

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:346171

UCSC genome browser

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UCSCi
uc011dlw.2, human [Q9NU63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS43436.2 [Q9NU63-3]
RefSeqiNP_001103279.2, NM_001109809.2 [Q9NU63-3]

3D structure databases

SMRiQ9NU63
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi131375, 12 interactors
IntActiQ9NU63, 8 interactors

PTM databases

iPTMnetiQ9NU63
PhosphoSitePlusiQ9NU63

Polymorphism and mutation databases

BioMutaiZFP57
DMDMi150416327

Proteomic databases

MaxQBiQ9NU63
PeptideAtlasiQ9NU63
PRIDEiQ9NU63
ProteomicsDBi82655 [Q9NU63-1]
82656 [Q9NU63-2]
82657 [Q9NU63-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
26080, 212 antibodies

The DNASU plasmid repository

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DNASUi
346171

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

Comparative Toxicogenomics Database

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CTDi
346171
DisGeNETi346171
EuPathDBiHostDB:ENSG00000204644.9

GeneCards: human genes, protein and diseases

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GeneCardsi
ZFP57
GeneReviewsiZFP57
HGNCiHGNC:18791, ZFP57
HPAiENSG00000204644, Tissue enhanced (brain, heart muscle)
MalaCardsiZFP57
MIMi601410, phenotype
612192, gene
neXtProtiNX_Q9NU63
OpenTargetsiENSG00000204644
Orphaneti99886, Transient neonatal diabetes mellitus
PharmGKBiPA134937821

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000002599
HOGENOMiCLU_002678_0_7_1
InParanoidiQ9NU63
OMAiFFQKPVT
OrthoDBi1551203at2759
PhylomeDBiQ9NU63
TreeFamiTF337947

Enzyme and pathway databases

PathwayCommonsiQ9NU63

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
346171, 22 hits in 862 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ZFP57

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
346171
PharosiQ9NU63, Tbio

Protein Ontology

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PROi
PR:Q9NU63
RNActiQ9NU63, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204644, Expressed in C1 segment of cervical spinal cord and 104 other tissues
ExpressionAtlasiQ9NU63, baseline and differential
GenevisibleiQ9NU63, HS

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
PF00096, zf-C2H2, 4 hits
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiZFP57_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NU63
Secondary accession number(s): B0S894
, B0V254, B2RXJ7, Q5SSB1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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