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

    Gene ID: 113835, updated on 2-Nov-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 DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See ZNF257 in Genome Data Viewer
    Location:
    19p12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (22052484..22091480)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (22190878..22229875)
    RS_2024_09 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 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. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    4. 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
    5. 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

    See all (10) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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