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

Gene ID: 147687, updated on 7-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57905774..57916592, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61002695..61019471, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article

See all (18) 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_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
    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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