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ZNF257 zinc finger protein 257 [ Homo sapiens (human) ]

Gene ID: 113835, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF257provided by HGNC
Official Full Name
zinc finger protein 257provided by HGNC
Primary source
HGNC:HGNC:13498
See related
Ensembl:ENSG00000197134 MIM:606957; AllianceGenome:HGNC:13498
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BMZF4; BMZF-4
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues See more
Orthologs
all
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Genomic context

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Location:
19p12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (22052484..22091480)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (22190878..22229875)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (22235286..22274282)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 208 Neighboring gene uncharacterized LOC124904672 Neighboring gene BCL2 interacting protein 3 pseudogene 28 Neighboring gene uncharacterized LOC112268248 Neighboring gene BCL2 interacting protein 3 pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:22322832-22323332 Neighboring gene zinc finger protein 92 pseudogene 2 Neighboring gene polycomb group ring finger 7 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript. Puig M, et al. PLoS Genet, 2015 Oct. PMID 26427027, Free PMC Article
  2. Molecular cloning of six novel Krüppel-like zinc finger genes from hematopoietic cells and identification of a novel transregulatory domain KRNB. Han ZG, et al. J Biol Chem, 1999 Dec 10. PMID 10585455
  3. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. Lambert JP, et al. J Proteomics, 2015 Apr 6. PMID 25281560, Free PMC Article
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. one of the breakpoints disrupts the transcription factor gene ZNF257, causing a significant reduction in the total expression level of this gene in lymphoblastoid cell lines
    Title: Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 257
Names
bone marrow zinc finger 4

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.

mRNA and Protein(s)

  1. NM_001316996.2 → NP_001303925.1  zinc finger protein 257 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' end and begins translation from a downstream AUG compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC011482, BC036446, DB001158
    UniProtKB/Swiss-Prot
    Q9Y2Q1
    Conserved Domains (4) summary
    smart00349
    Location:1 → 32
    KRAB; krueppel associated box
    COG5048
    Location:125 → 442
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:286 → 306
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:271 → 295
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001316997.2 → NP_001303926.1  zinc finger protein 257 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 3' end and begins translation from a downstream AUG compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC011482, BC036446, BU155753, DB001158
    UniProtKB/Swiss-Prot
    Q9Y2Q1
    Conserved Domains (3) summary
    COG5048
    Location:81 → 396
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:242 → 262
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:227 → 251
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001316998.2 → NP_001303927.1  zinc finger protein 257 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate internal exons and begins translation from a downstream AUG compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AC011482, BC036446, DB134269
    UniProtKB/Swiss-Prot
    Q9Y2Q1
    Conserved Domains (3) summary
    COG5048
    Location:81 → 396
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:242 → 262
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:227 → 251
    zf-H2C2_2; Zinc-finger double domain

  4. NM_033468.4 → NP_258429.2  zinc finger protein 257 isoform a

    See identical proteins and their annotated locations for NP_258429.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC011482, BC036446, DB001158
    Consensus CDS
    CCDS46030.1
    UniProtKB/Swiss-Prot
    B3KPS4, E9PG34, Q8NE34, Q9Y2Q1
    Related
    ENSP00000470209.1, ENST00000594947.6
    Conserved Domains (5) summary
    smart00349
    Location:4 → 64
    KRAB; krueppel associated box
    COG5048
    Location:157 → 474
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:318 → 338
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:4 → 43
    KRAB; KRAB box
    pfam13465
    Location:303 → 327
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    22052484..22091480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438121.1 → XP_047294077.1  zinc finger protein 257 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    22190878..22229875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319696.1 → XP_054175671.1  zinc finger protein 257 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2Q1.2 GenPept UniProtKB/Swiss-Prot:Q9Y2Q1

Gene LinkOut

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