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    ZNF417 zinc finger protein 417 [ Homo sapiens (human) ]

    Gene ID: 147687, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF417provided by HGNC
    Official Full Name
    zinc finger protein 417provided by HGNC
    Primary source
    HGNC:HGNC:20646
    See related
    Ensembl:ENSG00000173480 AllianceGenome:HGNC:20646
    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
    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 by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.9), prostate (RPKM 3.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF417 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 (57905774..57916592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61002695..61019471, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58417142..58427960, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 5 Neighboring gene zinc finger protein 814 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:58398549-58399281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399306-58399849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399850-58400392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58428025-58428880 Neighboring gene zinc finger protein 418 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58446173-58447055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15173 Neighboring gene zinc finger protein 256

    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. 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
    2. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article
    3. Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins. Rozenblatt-Rosen O, et al. Nature, 2012 Jul 26. PMID 22810586, Free PMC Article
    4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    5. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article

    See all (20) 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

    • MGC34079

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 417

    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_001297734.2 → NP_001284663.1  zinc finger protein 417 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter by one amino acid, compared to isoform 1.
      Source sequence(s)
      AC010326
      Consensus CDS
      CCDS74469.1
      UniProtKB/TrEMBL
      M0R230
      Related
      ENSP00000472272.1, ENST00000595559.1
      Conserved Domains (5) summary
      smart00349
      Location:14 → 69
      KRAB; krueppel associated box
      COG5048
      Location:272 → 567
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:353 → 373
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:393 → 418
      zf-H2C2_2; Zinc-finger double domain

    2. NM_152475.3 → NP_689688.2  zinc finger protein 417 isoform 1

      See identical proteins and their annotated locations for NP_689688.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010326, BC025783, BP358797
      Consensus CDS
      CCDS12965.1
      UniProtKB/Swiss-Prot
      B4DEU1, Q8TAU3
      Related
      ENSP00000311319.4, ENST00000312026.6
      Conserved Domains (5) summary
      smart00349
      Location:15 → 70
      KRAB; krueppel associated box
      COG5048
      Location:273 → 568
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:354 → 374
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:15 → 54
      KRAB; KRAB box
      pfam13465
      Location:394 → 419
      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
      57905774..57916592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526473.4 → XP_011524775.1  zinc finger protein 417 isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:83 → 138
      KRAB; krueppel associated box
      COG5048
      Location:341 → 636
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:422 → 442
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:364 → 386
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:83 → 122
      KRAB; KRAB box
      pfam13465
      Location:462 → 487
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047438222.1 → XP_047294178.1  zinc finger protein 417 isoform X1

    3. XM_047438223.1 → XP_047294179.1  zinc finger protein 417 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61002695..61019471 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319860.1 → XP_054175835.1  zinc finger protein 417 isoform X5

      UniProtKB/TrEMBL
      M0R230

    2. XM_054319859.1 → XP_054175834.1  zinc finger protein 417 isoform X4

      UniProtKB/Swiss-Prot
      B4DEU1, Q8TAU3

    3. XM_054319861.1 → XP_054175836.1  zinc finger protein 417 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAU3.2 GenPept UniProtKB/Swiss-Prot:Q8TAU3

    Gene LinkOut

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