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

    Gene ID: 148103, updated on 27-Nov-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 factor activity, RNA polymerase II-specific and RNA polymerase II transcription 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
    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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    See ZNF599 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34758073..34807601, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37302660..37351996, complement)
    RS_2024_09 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)

    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_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
      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

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

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