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    ZNF568 zinc finger protein 568 [ Homo sapiens (human) ]

    Gene ID: 374900, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF568provided by HGNC
    Official Full Name
    zinc finger protein 568provided by HGNC
    Primary source
    HGNC:HGNC:25392
    See related
    Ensembl:ENSG00000198453 MIM:617566; AllianceGenome:HGNC:25392
    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
    ZFP568
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in embryonic placenta morphogenesis and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.4), ovary (RPKM 1.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (36916332..36997932)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (39592006..39672948)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (37407234..37488834)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14535 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:37368334-37369533 Neighboring gene zinc finger protein 345 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:37382329-37383528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14537 Neighboring gene zinc finger protein 829 Neighboring gene ribosomal protein L31 pseudogene 61 Neighboring gene zinc finger protein 420 Neighboring gene uncharacterized LOC105372390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14538 Neighboring gene Sharpr-MPRA regulatory region 11816 Neighboring gene zinc finger protein 585A

    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. Targeted disruption in mice of a neural stem cell-maintaining, KRAB-Zn finger-encoding gene that has rapidly evolved in the human lineage. Chien HC, et al. PLoS One, 2012. PMID 23071813, Free PMC Article
    2. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
    3. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. Peloso GM, et al. J Lipid Res, 2010 Dec. PMID 20855565, Free PMC Article
    4. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. M003-A06 is likely one of the genes contributing to the uniqueness of the human brain in comparison to other higher primates.
      Title: Targeted disruption in mice of a neural stem cell-maintaining, KRAB-Zn finger-encoding gene that has rapidly evolved in the human lineage.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
    Submit: New GeneRIF Correction

    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

    • FLJ34820, FLJ35804, DKFZp667O0524, DKFZp686B0797

    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 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 transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in embryonic placenta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    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 568

    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_001204835.3 → NP_001191764.1  zinc finger protein 568 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC008733, BC016334, BC131547, BX640681
      UniProtKB/Swiss-Prot
      Q3ZCX4
      UniProtKB/TrEMBL
      A2VDJ6, Q96AZ9
      Conserved Domains (5) summary
      smart00349
      Location:48 → 102
      KRAB; krueppel associated box
      COG5048
      Location:247 → 633
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:419 → 439
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:48 → 87
      KRAB; KRAB box
      pfam13465
      Location:487 → 512
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001204836.2 → NP_001191765.1  zinc finger protein 568 isoform 3

      See identical proteins and their annotated locations for NP_001191765.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC008733, AK093123, BX640681
      Consensus CDS
      CCDS56092.1
      UniProtKB/Swiss-Prot
      Q3ZCX4
      UniProtKB/TrEMBL
      Q96AZ9
      Related
      ENSP00000466901.2, ENST00000587857.6
      Conserved Domains (5) summary
      smart00349
      Location:1 → 38
      KRAB; krueppel associated box
      COG5048
      Location:184 → 570
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:356 → 376
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 23
      KRAB; KRAB box
      pfam13465
      Location:424 → 449
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001204837.2 → NP_001191766.1  zinc finger protein 568 isoform 3

      See identical proteins and their annotated locations for NP_001191766.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks alternate exons in the 5' coding region and uses a downstream start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (3), which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC008733, BC111777, BX640681
      Consensus CDS
      CCDS56092.1
      UniProtKB/Swiss-Prot
      Q3ZCX4
      UniProtKB/TrEMBL
      Q96AZ9
      Related
      ENSP00000394514.1, ENST00000415168.5
      Conserved Domains (5) summary
      smart00349
      Location:1 → 38
      KRAB; krueppel associated box
      COG5048
      Location:184 → 570
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:356 → 376
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:3 → 23
      KRAB; KRAB box
      pfam13465
      Location:424 → 449
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001204838.2 → NP_001191767.1  zinc finger protein 568 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC008733, AK299626, BC016334, BC108696
      Consensus CDS
      CCDS74351.1
      UniProtKB/TrEMBL
      A0A087WZ84, C9JLX5
      Related
      ENSP00000389794.2, ENST00000444991.6
      Conserved Domains (5) summary
      smart00349
      Location:137 → 197
      KRAB; krueppel associated box
      COG5048
      Location:278 → 621
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:537 → 557
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:48 → 87
      KRAB; KRAB box
      pfam13465
      Location:437 → 462
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001204839.2 → NP_001191768.1  zinc finger protein 568 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 6) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC008733, AK299626, BC016334
      Consensus CDS
      CCDS56093.1
      UniProtKB/Swiss-Prot
      Q3ZCX4
      UniProtKB/TrEMBL
      Q96AZ9
      Related
      ENSP00000413396.2, ENST00000455427.7
      Conserved Domains (5) summary
      smart00349
      Location:73 → 133
      KRAB; krueppel associated box
      COG5048
      Location:224 → 501
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:473 → 493
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:73 → 112
      KRAB; KRAB box
      pfam13465
      Location:373 → 398
      zf-H2C2_2; Zinc-finger double domain

    6. NM_198539.4 → NP_940941.2  zinc finger protein 568 isoform 1

      See identical proteins and their annotated locations for NP_940941.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC008733, BC031218, BC111777, BX640681
      Consensus CDS
      CCDS42558.1
      UniProtKB/Swiss-Prot
      B4DS92, E7ER33, Q3ZCX4, Q6N060, Q8NA64
      Related
      ENSP00000334685.7, ENST00000333987.12
      Conserved Domains (5) summary
      smart00349
      Location:48 → 102
      KRAB; krueppel associated box
      COG5048
      Location:248 → 634
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:420 → 440
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:48 → 87
      KRAB; KRAB box
      pfam13465
      Location:488 → 513
      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
      36916332..36997932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438787.1 → XP_047294743.1  zinc finger protein 568 isoform X1

      UniProtKB/Swiss-Prot
      B4DS92, E7ER33, Q3ZCX4, Q6N060, Q8NA64
      Related
      ENSP00000516249.1, ENST00000706170.1

    2. XM_017026772.2 → XP_016882261.1  zinc finger protein 568 isoform X2

      UniProtKB/TrEMBL
      A0A087WZ84, C9JLX5
      Conserved Domains (5) summary
      smart00349
      Location:137 → 197
      KRAB; krueppel associated box
      COG5048
      Location:278 → 621
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:537 → 557
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:48 → 87
      KRAB; KRAB box
      pfam13465
      Location:437 → 462
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      39592006..39672948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320928.1 → XP_054176903.1  zinc finger protein 568 isoform X1

    2. XM_054320929.1 → XP_054176904.1  zinc finger protein 568 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCX4.2 GenPept UniProtKB/Swiss-Prot:Q3ZCX4

    Gene LinkOut

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

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