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    ZNF71 zinc finger protein 71 [ Homo sapiens (human) ]

    Gene ID: 58491, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF71provided by HGNC
    Official Full Name
    zinc finger protein 71provided by HGNC
    Primary source
    HGNC:HGNC:13141
    See related
    Ensembl:ENSG00000197951 MIM:194545; AllianceGenome:HGNC:13141
    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
    EZFIT
    Summary
    Predicted to enable DNA-binding transcription activator 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 by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 1.6), fat (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF71 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (56595302..56624486)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59689707..59718582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57106670..57135854)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904777 Neighboring gene sialic acid binding Ig like lectin 31, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11070 Neighboring gene ZNF71-SMIM17 readthrough (NMD candidate) Neighboring gene ReSE screen-validated silencer GRCh37_chr19:57128366-57128584 Neighboring gene Sharpr-MPRA regulatory region 15209 Neighboring gene small integral membrane protein 17 Neighboring gene zinc finger protein 835

    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. Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer. Ye Q, et al. Int J Mol Sci, 2021 Apr 4. PMID 33916522, Free PMC Article
    2. A novel zinc finger protein mRNA in human umbilical vein endothelial cells is profoundly induced by tumor necrosis factor alpha. Mataki C, et al. J Atheroscler Thromb, 2000. PMID 11426589
    3. Cloning of six new genes with zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2). Aubry M, et al. Genomics, 1992 Jul. PMID 1639391
    4. A genome-wide association study of total serum and mite-specific IgEs in asthma patients. Kim JH, et al. PLoS One, 2013. PMID 23967269, Free PMC Article
    5. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer.
      Title: Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of total serum and mite-specific IgEs in asthma patients.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough ZNF71-SMIM17

    Readthrough gene: ZNF71-SMIM17, Included gene: SMIM17

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    endothelial zinc finger protein induced by tumor necrosis factor alpha
    Names
    Kruppel-related zinc finger protein

    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_001370214.1 → NP_001357143.1  endothelial zinc finger protein induced by tumor necrosis factor alpha isoform 1

      Status: VALIDATED

      Source sequence(s)
      AA580897, AC007228, AF269249, BC014280, BQ932244, CA416578, CR989498, HY138791
      Consensus CDS
      CCDS12947.1
      UniProtKB/Swiss-Prot
      Q15919, Q9NQZ8, Q9UC09, Q9UQD3
      Related
      ENSP00000520559.1, ENST00000716547.1
      Conserved Domains (2) summary
      COG5048
      Location:110 → 479
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:272 → 292
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001370215.1 → NP_001357144.1  endothelial zinc finger protein induced by tumor necrosis factor alpha isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA580897, AC007228, AF269249, BC014280, BQ932244, CA416578, CR989498, HY138791
      Consensus CDS
      CCDS92695.1
      UniProtKB/TrEMBL
      M0R0C0
      Related
      ENSP00000471138.2, ENST00000599599.7
      Conserved Domains (3) summary
      COG5048
      Location:170 → 544
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:332 → 352
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 54
      KRAB; KRAB box

    3. NM_021216.5 → NP_067039.1  endothelial zinc finger protein induced by tumor necrosis factor alpha isoform 1

      See identical proteins and their annotated locations for NP_067039.1

      Status: VALIDATED

      Source sequence(s)
      AC007228, AF269249, BC014280, BP377051
      Consensus CDS
      CCDS12947.1
      UniProtKB/Swiss-Prot
      Q15919, Q9NQZ8, Q9UC09, Q9UQD3
      Related
      ENSP00000328245.5, ENST00000328070.10
      Conserved Domains (2) summary
      COG5048
      Location:110 → 479
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:272 → 292
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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
      56595302..56624486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      59689707..59718582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQZ8.1 GenPept UniProtKB/Swiss-Prot:Q9NQZ8

    Gene LinkOut

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

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