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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

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