U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
zinc finger protein 597

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous