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ZNF599 zinc finger protein 599 [ Homo sapiens (human) ]

Gene ID: 148103, updated on 11-Apr-2024

Summary

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Official Symbol
ZNF599provided by HGNC
Official Full Name
zinc finger protein 599provided by HGNC
Primary source
HGNC:HGNC:26408
See related
Ensembl:ENSG00000153896 AllianceGenome:HGNC:26408
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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 1.7), ovary (RPKM 1.1) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
19q13.11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34758073..34807601, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37302660..37351996, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35248978..35264120, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10508 Neighboring gene zinc finger protein 181 Neighboring gene uncharacterized LOC124904698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14452 Neighboring gene uncharacterized LOC124904696 Neighboring gene zinc finger protein 134 pseudogene Neighboring gene long intergenic non-protein coding RNA 1801 Neighboring gene zinc finger protein 396 pseudogene Neighboring gene long intergenic non-protein coding RNA 2965 Neighboring gene long intergenic non-protein coding RNA 3049

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. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  2. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) 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

  • FLJ50920

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 transcription 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 599

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_001007248.3 → NP_001007249.1  zinc finger protein 599

    See identical proteins and their annotated locations for NP_001007249.1

    Status: VALIDATED

    Source sequence(s)
    AC020910, AK055225
    Consensus CDS
    CCDS32991.1
    UniProtKB/Swiss-Prot
    Q569K0, Q5PRG1, Q96NL3
    Related
    ENSP00000333802.6, ENST00000329285.13
    Conserved Domains (5) summary
    smart00349
    Location:9 → 69
    KRAB; krueppel associated box
    COG5048
    Location:253 → 580
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:369 → 389
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:9 → 48
    KRAB; KRAB box
    pfam13465
    Location:549 → 574
    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
    34758073..34807601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438256.1 → XP_047294212.1  zinc finger protein 599 isoform X1

  2. XM_047438255.1 → XP_047294211.1  zinc finger protein 599 isoform X1

  3. XM_047438254.1 → XP_047294210.1  zinc finger protein 599 isoform X1

  4. XM_047438257.1 → XP_047294213.1  zinc finger protein 599 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37302660..37351996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319964.1 → XP_054175939.1  zinc finger protein 599 isoform X1

  2. XM_054319965.1 → XP_054175940.1  zinc finger protein 599 isoform X1

  3. XM_054319966.1 → XP_054175941.1  zinc finger protein 599 isoform X1

  4. XM_054319967.1 → XP_054175942.1  zinc finger protein 599 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007247.1: Suppressed sequence

    Description
    NM_001007247.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NL3.1 GenPept UniProtKB/Swiss-Prot:Q96NL3

Gene LinkOut

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