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    ZNF414 zinc finger protein 414 [ Homo sapiens (human) ]

    Gene ID: 84330, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ZNF414provided by HGNC
    Official Full Name
    zinc finger protein 414provided by HGNC
    Primary source
    HGNC:HGNC:20630
    See related
    Ensembl:ENSG00000133250 AllianceGenome:HGNC:20630
    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
    ZFP414
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 4.4), prostate (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8509678..8514167, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8497262..8501751, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8574562..8579051, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10025 Neighboring gene heterogeneous nuclear ribonucleoprotein M Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8563393-8564079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8570689-8571189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8571229-8571815 Neighboring gene PML-RARA regulated adaptor molecule 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8576283-8577173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8587561-8588060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8590637-8591612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10031 Neighboring gene uncharacterized LOC124904633 Neighboring gene myosin IF Neighboring gene MPRA-validated peak3335 silencer Neighboring gene MPRA-validated peak3337 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10033 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8643658-8643852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8649461-8650040 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:8651198-8651775 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8656685-8657283 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8674492-8674914

    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. Search for KPNA7 cargo proteins in human cells reveals MVP and ZNF414 as novel regulators of cancer cell growth. Vuorinen EM, et al. Biochim Biophys Acta Mol Basis Dis, 2017 Jan. PMID 27664836
    2. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
    3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    5. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15716

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    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 regulation of DNA-templated transcription 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 414

    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_001146175.2 → NP_001139647.1  zinc finger protein 414 isoform 1

      See identical proteins and their annotated locations for NP_001139647.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092298, AK225034, BC007310, BQ773835, BU621653, DA257941
      Consensus CDS
      CCDS54211.1
      UniProtKB/Swiss-Prot
      Q96IQ9
      Related
      ENSP00000377504.3, ENST00000393927.9
      Conserved Domains (3) summary
      sd00017
      Location:114 → 133
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam05104
      Location:2 → 94
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam15909
      Location:110 → 204
      zf-C2H2_8; C2H2-type zinc ribbon

    2. NM_032370.3 → NP_115746.2  zinc finger protein 414 isoform 2

      See identical proteins and their annotated locations for NP_115746.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092298, AI937020, AK225034, BC007310, BM141801, DA257941
      Consensus CDS
      CCDS12205.1
      UniProtKB/Swiss-Prot
      A8MY94, Q96IQ9
      Related
      ENSP00000255616.7, ENST00000255616.8
      Conserved Domains (2) summary
      sd00017
      Location:114 → 133
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:110 → 204
      zf-C2H2_8; C2H2-type zinc ribbon

    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
      8509678..8514167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8497262..8501751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IQ9.2 GenPept UniProtKB/Swiss-Prot:Q96IQ9

    Gene LinkOut

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

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