ZFP57 ZFP57 zinc finger protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZFP57provided by HGNC
Official Full Name: ZFP57 zinc finger proteinprovided by HGNC
Primary source: HGNC:HGNC:18791
See related: Ensembl:ENSG00000204644 MIM:612192; AllianceGenome:HGNC:18791
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2
Summary: The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
Expression: Biased expression in heart (RPKM 2.7), brain (RPKM 1.0) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (29672392..29681152, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (29547090..29555881, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (29640169..29648929, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers.
Title: Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers.
ZFP57 dictates allelic expression switch of target imprinted genes.
Title: ZFP57 dictates allelic expression switch of target imprinted genes.
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances.
Title: The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances.
ZFP57-MEST and the Wnt/beta-catenin pathway axis are involved in breast tumorigenesis, which may represent a potential diagnostic biomarker, and provide a new insight into a novel therapeutic strategy for breast cancer patients.
Title: ZFP57 suppress proliferation of breast cancer cells through down-regulation of MEST-mediated Wnt/β-catenin signalling pathway.
Study demonstrated that ZFP57 plays an important role in the hematogenous metastasis of colorectal cancer, suggesting that it could be used as a novel treatment target. The expression level of ZFP57 was significantly correlated with that of the metastasis-related gene NANOG and ZFP57 overexpression reduced the progression-free survival rate of patients with colorectal cancer.
Title: The Embryonic Stem Cell-Specific Transcription Factor ZFP57 Promotes Liver Metastasis of Colorectal Cancer.
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.
Title: Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene.
Data propose that paternal deletions are associated with Silver-Russell syndrome when ZFP57 binding is affected and this happens when one of the three ZFP57 binding regions to H19/IGF2 intergenic differentially methylated region is lost.
Title: Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
transient neonatal diabetes type 1 is associated with ZFP57 mutations
Title: Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.
ZFP57 regulates the expression of insulin-like growth factor 2 (IGF2), which has a critical role in ZFP57-induced anchorage-independent growth
Title: The stem cell transcription factor ZFP57 induces IGF2 expression to promote anchorage-independent growth in cancer cells.
High grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C.
Title: High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus, transient neonatal, 1 MedGen: C1832386 OMIM: 601410 GeneReviews: Diabetes Mellitus, 6q24-Related Transient Neonatal	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:314693 (e-PCR)
- UniSTS:156477

STS-Z48051 (e-PCR)
- UniSTS:55678

JA07 (e-PCR)
- UniSTS:241077

MOGc (e-PCR)
- UniSTS:239102

MOGb (e-PCR)
- UniSTS:239103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autosome genomic imprinting	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 57 homolog

Names: zfp-57; zinc finger protein 698

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013045.1 RefSeqGene

Range

1003..9672

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001109809.5 → NP_001103279.2 zinc finger protein 57 homolog isoform 1

See identical proteins and their annotated locations for NP_001103279.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL645936

Consensus CDS

CCDS43436.2

UniProtKB/TrEMBL

A0A1U9X8V4, A0A1U9X8V5, A0A1U9X8Y0, A0A1U9X8Y2

Related

ENSP00000366080.2, ENST00000376883.2

Conserved Domains (3) summary

smart00349
Location:44 → 104

KRAB; krueppel associated box

COG5048
Location:185 → 430

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:205 → 225

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001366333.2 → NP_001353262.1 zinc finger protein 57 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL645936

Consensus CDS

CCDS93878.1

UniProtKB/TrEMBL

A0A1U9X8Y0, A0A1U9X8Y2, A0A7I2S1M6

Related

ENSP00000418259.2, ENST00000488757.6

Conserved Domains (3) summary

COG5048
Location:113 → 358

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:133 → 153

ZF_C2H2; C2H2 Zn finger [structural motif]

cl02581
Location:1 → 32

KRAB_A-box; KRAB (Kruppel-associated box) domain -A box