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    ZNF600 zinc finger protein 600 [ Homo sapiens (human) ]

    Gene ID: 162966, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF600provided by HGNC
    Official Full Name
    zinc finger protein 600provided by HGNC
    Primary source
    HGNC:HGNC:30951
    See related
    Ensembl:ENSG00000189190 AllianceGenome:HGNC:30951
    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
    Also known as
    KR-ZNF1
    Summary
    Predicted to enable DNA-binding transcription activator 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, Dec 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 4.5), spleen (RPKM 4.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF600 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52764164..52833645, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55848625..55917941, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53267417..53290044, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 611 Neighboring gene uncharacterized LOC124904760 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:53238285-53239270 Neighboring gene uncharacterized LOC105372452 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:53259364-53260079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53263091-53263641 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:53285228-53285408 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:53287129-53287305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53289004-53289862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53289863-53290720 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:53293023-53293553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53294085-53294614 Neighboring gene zinc finger protein 28 Neighboring gene PABPN1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53324831-53325332 Neighboring gene zinc finger protein 468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15057 Neighboring gene zinc finger protein 320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:53379555-53380056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15059

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Regulation of T-cell receptor D beta 1 promoter by KLF5 through reiterated GC-rich motifs. Yang XO, et al. Blood, 2003 Jun 1. PMID 12576331
    2. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. Demirkan A, et al. PLoS Genet, 2012. PMID 22359512, Free PMC Article
    3. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog

    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

    • DKFZp686F06123

    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 
    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 600
    Names
    zinc finger protein KR-ZNF1

    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_001321866.4 → NP_001308795.1  zinc finger protein 600 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008813
      Consensus CDS
      CCDS92675.1
      UniProtKB/TrEMBL
      A0A3B3IT03
      Related
      ENSP00000509267.1, ENST00000692063.1
      Conserved Domains (6) summary
      smart00349
      Location:24 → 71
      KRAB; krueppel associated box
      COG5048
      Location:341 → 748
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:317 → 337
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:707 → 729
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:24 → 60
      KRAB; KRAB box
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001321867.3 → NP_001308796.1  zinc finger protein 600 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008813, BX640933, DB158392
      Consensus CDS
      CCDS92675.1
      UniProtKB/TrEMBL
      A0A3B3IT03
      Related
      ENSP00000497540.1, ENST00000648973.1
      Conserved Domains (6) summary
      smart00349
      Location:24 → 71
      KRAB; krueppel associated box
      COG5048
      Location:341 → 748
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:317 → 337
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:707 → 729
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:24 → 60
      KRAB; KRAB box
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    3. NM_198457.5 → NP_940859.3  zinc finger protein 600 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008813, AK131231, BX640933, DB158392
      Consensus CDS
      CCDS12856.1
      UniProtKB/Swiss-Prot
      Q6MZR0, Q6ZNG1
      Related
      ENSP00000344791.2, ENST00000338230.3
      Conserved Domains (4) summary
      COG5048
      Location:272 → 679
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:248 → 268
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:638 → 660
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:288 → 313
      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
      52764164..52833645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438291.1 → XP_047294247.1  zinc finger protein 600 isoform X2

    2. XM_047438297.1 → XP_047294253.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    3. XM_047438294.1 → XP_047294250.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    4. XM_047438299.1 → XP_047294255.1  zinc finger protein 600 isoform X3

      UniProtKB/Swiss-Prot
      Q6MZR0, Q6ZNG1

    5. XM_047438288.1 → XP_047294244.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    6. XM_047438296.1 → XP_047294252.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    7. XM_017026390.2 → XP_016881879.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03
      Conserved Domains (6) summary
      smart00349
      Location:24 → 71
      KRAB; krueppel associated box
      COG5048
      Location:341 → 748
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:317 → 337
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:707 → 729
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:24 → 60
      KRAB; KRAB box
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    8. XM_047438298.1 → XP_047294254.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    9. XM_047438295.1 → XP_047294251.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    10. XM_047438292.1 → XP_047294248.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    11. XM_047438289.1 → XP_047294245.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    12. XM_047438293.1 → XP_047294249.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    13. XM_017026392.2 → XP_016881881.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03
      Related
      ENSP00000509375.1, ENST00000688329.1
      Conserved Domains (6) summary
      smart00349
      Location:24 → 71
      KRAB; krueppel associated box
      COG5048
      Location:341 → 748
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:317 → 337
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:707 → 729
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:24 → 60
      KRAB; KRAB box
      pfam13465
      Location:357 → 382
      zf-H2C2_2; Zinc-finger double domain

    14. XM_047438290.1 → XP_047294246.1  zinc finger protein 600 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IT03

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55848625..55917941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320030.1 → XP_054176005.1  zinc finger protein 600 isoform X2

    2. XM_054320037.1 → XP_054176012.1  zinc finger protein 600 isoform X1

    3. XM_054320034.1 → XP_054176009.1  zinc finger protein 600 isoform X1

    4. XM_054320027.1 → XP_054176002.1  zinc finger protein 600 isoform X1

    5. XM_054320036.1 → XP_054176011.1  zinc finger protein 600 isoform X1

    6. XM_054320033.1 → XP_054176008.1  zinc finger protein 600 isoform X1

    7. XM_054320035.1 → XP_054176010.1  zinc finger protein 600 isoform X1

    8. XM_054320031.1 → XP_054176006.1  zinc finger protein 600 isoform X1

    9. XM_054320028.1 → XP_054176003.1  zinc finger protein 600 isoform X1

    10. XM_054320032.1 → XP_054176007.1  zinc finger protein 600 isoform X1

    11. XM_054320038.1 → XP_054176013.1  zinc finger protein 600 isoform X1

    12. XM_054320029.1 → XP_054176004.1  zinc finger protein 600 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNG1.2 GenPept UniProtKB/Swiss-Prot:Q6ZNG1

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