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    ZNF597 zinc finger protein 597 [ Homo sapiens (human) ]

    Gene ID: 146434, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF597provided by HGNC
    Official Full Name
    zinc finger protein 597provided by HGNC
    Primary source
    HGNC:HGNC:26573
    See related
    Ensembl:ENSG00000167981 MIM:614685; AllianceGenome:HGNC:26573
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIT-4
    Summary
    This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in testis (RPKM 3.2), lung (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3432414..3443504, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3459676..3470773, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3482414..3493504, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371059 Neighboring gene zinc finger and SCAN domain containing 32 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3450765-3451264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7133 Neighboring gene zinc finger protein 174 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3470303-3470585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3481451-3481952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7135 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_43328 and experimental_43330 Neighboring gene N-alpha-acetyltransferase 60, NatF catalytic subunit Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43335 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3517275-3517812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3519547-3520264 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43345 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43346 Neighboring gene Sharpr-MPRA regulatory region 11363 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3543048-3543257 Neighboring gene microRNA 6126 Neighboring gene chromosome 16 open reading frame 90 Neighboring gene ribosomal protein L18 pseudogene 12 Neighboring gene clusterin associated protein 1

    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. Analysis of allelic differential expression in human white blood cells. Pant PV, et al. Genome Res, 2006 Mar. PMID 16467561, Free PMC Article
    2. Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. Nakabayashi K, et al. Hum Mol Genet, 2011 Aug 15. PMID 21593219
    3. A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Choufani S, et al. Genome Res, 2011 Mar. PMID 21324877, Free PMC Article
    4. Molecular characterization and gene disruption of a novel zinc-finger protein, HIT-4, expressed in rodent brain. Tanabe Y, et al. J Neurochem, 2010 Feb. PMID 19968752
    5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article

    See all (19) 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

    • FLJ33071

    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 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    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
    zinc finger protein 597

    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.

    Genomic

    1. NG_045222.1 RefSeqGene

      Range
      5034..16124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1066

    mRNA and Protein(s)

    1. NM_152457.3 → NP_689670.1  zinc finger protein 597

      See identical proteins and their annotated locations for NP_689670.1

      Status: REVIEWED

      Source sequence(s)
      AC025283, AI038687, AL701654
      Consensus CDS
      CCDS10505.1
      UniProtKB/Swiss-Prot
      Q96LX8
      Related
      ENSP00000301744.4, ENST00000301744.7
      Conserved Domains (3) summary
      COG5048
      Location:150 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:158 → 178
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 54
      KRAB; KRAB box

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3432414..3443504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3459676..3470773 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LX8.1 GenPept UniProtKB/Swiss-Prot:Q96LX8

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