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ZBTB17 zinc finger and BTB domain containing 17 [ Homo sapiens (human) ]

Gene ID: 7709, updated on 27-Nov-2024

Summary

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Official Symbol
ZBTB17provided by HGNC
Official Full Name
zinc finger and BTB domain containing 17provided by HGNC
Primary source
HGNC:HGNC:12936
See related
Ensembl:ENSG00000116809 MIM:604084; AllianceGenome:HGNC:12936
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
MIZ-1; ZNF60; ZNF151; pHZ-67
Summary
This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 10.4), testis (RPKM 10.3) and 25 other tissues See more
Orthologs
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Genomic context

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See ZBTB17 in Genome Data Viewer
Location:
1p36.13
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15941869..15976101, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15383149..15417408, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16268364..16302596, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16161483-16162468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 248 Neighboring gene Sharpr-MPRA regulatory region 11658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 314 Neighboring gene SPEN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 249 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16173332-16173844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16173845-16174356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16175780-16176374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16191755-16192255 Neighboring gene spen family transcriptional repressor Neighboring gene NFE2L2 motif-containing MPRA enhancer 216 Neighboring gene MPRA-validated peak83 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene MPRA-validated peak84 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16261375-16261876 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:16268619-16269818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16276391-16277178 Neighboring gene uncharacterized LOC124903855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 254 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:16278891-16280090 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:16287659-16288532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16302461-16302960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16320391-16321231 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:16330551-16331416 Neighboring gene TBC1 domain family member 3 pseudogene 6 Neighboring gene steroid receptor associated and regulated protein

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. Structural Insights into c-Myc-interacting Zinc Finger Protein-1 (Miz-1) Delineate Domains Required for DNA Scanning and Sequence-specific Binding. Bédard M, et al. J Biol Chem, 2017 Feb 24. PMID 28035002, Free PMC Article
  2. A beta-sheet interaction interface directs the tetramerisation of the Miz-1 POZ domain. Stead MA, et al. J Mol Biol, 2007 Nov 2. PMID 17880999
  3. De novo identification of MIZ-1 (ZBTB17) encoding a MYC-interacting zinc-finger protein as a new favorable neuroblastoma gene. Ikegaki N, et al. Clin Cancer Res, 2007 Oct 15. PMID 17947461
  4. Polymorphism of ZBTB17 gene is associated with idiopathic dilated cardiomyopathy: a case control study in a Han Chinese population. Li X, et al. Eur J Med Res, 2013 Apr 9. PMID 23570452, Free PMC Article
  5. Miz-1 activates gene expression via a novel consensus DNA binding motif. Barrilleaux BL, et al. PLoS One, 2014. PMID 24983942, Free PMC Article

See all (99) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Low NDRG2, regulated by the MYC/MIZ-1 complex and methylation, predicts poor outcomes in DLBCL patients.
    Title: Low NDRG2, regulated by the MYC/MIZ-1 complex and methylation, predicts poor outcomes in DLBCL patients.
  2. A TNFalpha/Miz1-positive feedback loop inhibits mitophagy in hepatocytes and propagates non-alcoholic steatohepatitis.
    Title: A TNFα/Miz1-positive feedback loop inhibits mitophagy in hepatocytes and propagates non-alcoholic steatohepatitis.
  3. Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
    Title: Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
  4. MYC- and MIZ1-Dependent Vesicular Transport of Double-Strand RNA Controls Immune Evasion in Pancreatic Ductal Adenocarcinoma.
    Title: MYC- and MIZ1-Dependent Vesicular Transport of Double-Strand RNA Controls Immune Evasion in Pancreatic Ductal Adenocarcinoma.
  5. Identification of the SARS-CoV-2 Entry Receptor ACE2 as a Direct Target for Transcriptional Repression by Miz1.
    Title: Identification of the SARS-CoV-2 Entry Receptor ACE2 as a Direct Target for Transcriptional Repression by Miz1.
  6. MXD/MIZ1 transcription regulatory complexes activate the expression of MYC-repressed genes.
    Title: MXD/MIZ1 transcription regulatory complexes activate the expression of MYC-repressed genes.
  7. Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen.
    Title: Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen.
  8. Because RPL23 is encoded by a target gene of c-Myc, the RPL23/Miz-1/c-Myc regulatory circuit provides a feedback loop that links efficient RPL23 expression with c-Myc's function to suppress Miz-1-induced Cdk inhibitors and thereby leads to apoptotic resistance in higher-risk myelodysplastic syndrome patients
    Title: Ribosomal protein L23 negatively regulates cellular apoptosis via the RPL23/Miz-1/c-Myc circuit in higher-risk myelodysplastic syndrome.
  9. This study firstly associates ZBTB17 loss-of-function mutation with enhanced susceptibility to DCM in humans, which provides novel insight into the molecular mechanism underpinning DCM, implying potential implications for genetic counseling and personalized management of DCM
    Title: ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy.
  10. These data suggest that MYC acts as a master coordinator that inversely modulates the impact of cell cycle and circadian clock on gene expression via its interaction with MIZ1.
    Title: MYC/MIZ1-dependent gene repression inversely coordinates the circadian clock with cell cycle and proliferation.
Submit: New GeneRIF Correction See all GeneRIFs (42)

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
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables DNA-binding transcription repressor 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_negative_effect G1 to G0 transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ectoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in gastrulation with mouth forming second IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell cycle TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of immune system process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of protein-DNA complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
zinc finger and BTB domain-containing protein 17
Names
Myc-interacting Zn finger protein-1
zinc finger protein 151 (pHZ-67)
zinc finger protein 60

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_001242884.2 → NP_001229813.1  zinc finger and BTB domain-containing protein 17 isoform 1

    See identical proteins and their annotated locations for NP_001229813.1

    Status: VALIDATED

    Source sequence(s)
    AK301896, BC126163, BU634371, DB064089
    Consensus CDS
    CCDS55576.1
    UniProtKB/TrEMBL
    B2RCP2
    Related
    ENSP00000438529.1, ENST00000537142.5
    Conserved Domains (5) summary
    COG5048
    Location:224 → 555
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:394 → 414
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:534 → 553
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:224 → 246
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:238 → 262
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001287603.2 → NP_001274532.1  zinc finger and BTB domain-containing protein 17 isoform 3

    See identical proteins and their annotated locations for NP_001274532.1

    Status: VALIDATED

    Source sequence(s)
    AK223618, BC143965, BC143968, DB064089
    Consensus CDS
    CCDS72712.1
    UniProtKB/TrEMBL
    B2RCP2
    Related
    ENSP00000364885.2, ENST00000375733.6
    Conserved Domains (7) summary
    smart00225
    Location:25 → 109
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:306 → 637
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:476 → 496
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:616 → 635
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:306 → 328
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:14 → 109
    BTB; BTB/POZ domain
    pfam13465
    Location:320 → 344
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001287604.2 → NP_001274533.1  zinc finger and BTB domain-containing protein 17 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AK223618, BC143968, DB064089
    UniProtKB/TrEMBL
    B2RCP2
    Conserved Domains (7) summary
    smart00225
    Location:1 → 33
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:230 → 561
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:400 → 420
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:540 → 559
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:230 → 252
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:244 → 268
    zf-H2C2_2; Zinc-finger double domain
    cl02518
    Location:1 → 33
    BTB; BTB/POZ domain

  4. NM_001324137.2 → NP_001311066.1  zinc finger and BTB domain-containing protein 17 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL034555, AL355994
    UniProtKB/TrEMBL
    B2RCP2
    Conserved Domains (7) summary
    smart00225
    Location:1 → 33
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:230 → 561
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:400 → 420
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:540 → 559
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:230 → 252
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:244 → 268
    zf-H2C2_2; Zinc-finger double domain
    cl02518
    Location:1 → 33
    BTB; BTB/POZ domain

  5. NM_001324138.2 → NP_001311067.1  zinc finger and BTB domain-containing protein 17 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL034555, AL355994
    UniProtKB/TrEMBL
    B4E1F9

  6. NM_003443.3 → NP_003434.2  zinc finger and BTB domain-containing protein 17 isoform 2

    See identical proteins and their annotated locations for NP_003434.2

    Status: VALIDATED

    Source sequence(s)
    BC126163, BQ575263, DB064089
    Consensus CDS
    CCDS165.1
    UniProtKB/Swiss-Prot
    A0AV07, B4DXB4, B7ZLQ9, F5H411, Q13105, Q15932, Q5JYB2, Q9NUC9
    UniProtKB/TrEMBL
    B2RCP2
    Related
    ENSP00000364895.4, ENST00000375743.9
    Conserved Domains (7) summary
    smart00225
    Location:25 → 109
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:306 → 637
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:476 → 496
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:616 → 635
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:306 → 328
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:14 → 109
    BTB; BTB/POZ domain
    pfam13465
    Location:320 → 344
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    15941869..15976101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542085.4 → XP_011540387.1  zinc finger and BTB domain-containing protein 17 isoform X2

    See identical proteins and their annotated locations for XP_011540387.1

    UniProtKB/TrEMBL
    B2RCP2
    Conserved Domains (7) summary
    smart00225
    Location:1 → 33
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:230 → 561
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:400 → 420
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:540 → 559
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:230 → 252
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:244 → 268
    zf-H2C2_2; Zinc-finger double domain
    cl02518
    Location:1 → 33
    BTB; BTB/POZ domain

  2. XM_011542087.4 → XP_011540389.1  zinc finger and BTB domain-containing protein 17 isoform X3

    See identical proteins and their annotated locations for XP_011540389.1

    UniProtKB/TrEMBL
    B2RCP2
    Conserved Domains (5) summary
    COG5048
    Location:224 → 555
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:394 → 414
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:534 → 553
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:224 → 246
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:238 → 262
    zf-H2C2_2; Zinc-finger double domain

  3. XM_005245986.3 → XP_005246043.1  zinc finger and BTB domain-containing protein 17 isoform X1

    UniProtKB/TrEMBL
    B4E1F9
    Conserved Domains (7) summary
    smart00225
    Location:25 → 65
    BTB; Broad-Complex, Tramtrack and Bric a brac
    COG5048
    Location:243 → 574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:413 → 433
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:553 → 572
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:243 → 265
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:14 → 66
    BTB; BTB/POZ domain
    pfam13465
    Location:257 → 281
    zf-H2C2_2; Zinc-finger double domain

  4. XM_047429978.1 → XP_047285934.1  zinc finger and BTB domain-containing protein 17 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    15383149..15417408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338631.1 → XP_054194606.1  zinc finger and BTB domain-containing protein 17 isoform X2

  2. XM_054338633.1 → XP_054194608.1  zinc finger and BTB domain-containing protein 17 isoform X3

  3. XM_054338630.1 → XP_054194605.1  zinc finger and BTB domain-containing protein 17 isoform X1

  4. XM_054338632.1 → XP_054194607.1  zinc finger and BTB domain-containing protein 17 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13105.3 GenPept UniProtKB/Swiss-Prot:Q13105

Gene LinkOut

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