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

    Gene ID: 7709, updated on 3-Apr-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15941869..15976101, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15383149..15417408, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 315 Neighboring gene SPEN antisense RNA 1 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 ATAC-STARR-seq lymphoblastoid silent region 321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16343340-16344086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16344087-16344831 Neighboring gene steroid receptor associated and regulated protein Neighboring gene heat shock protein family B (small) member 7

    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. ZBTB17 loss-of-function mutation contributes to familial dilated cardiomyopathy. Sun YM, et al. Heart Vessels, 2018 Jul. PMID 29445930
    2. 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
    3. Miz-1 promotes the proliferation of esophageal cancer cells via suppression of p21 and release of p21-arrested cyclin D1. Luo J, et al. Oncol Rep, 2016 Jun. PMID 27109891
    4. Solution structure of the 13th C2H2 Zinc Finger of Miz-1. Tremblay C, et al. Biochem Biophys Res Commun, 2016 Apr 29. PMID 26972249
    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 (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
      Title: Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. strategy for the purification of tethered POZ domains that form forced heterodimers is described, and crystal structures of the heterodimeric POZ domains of Miz1/BCL6 and of Miz1/NAC1 are reported
      Title: Structures of heterodimeric POZ domains of Miz1/BCL6 and Miz1/NAC1.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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)

    Genotypes

    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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    NEW Try the new Transcript table

    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_2023_10

    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

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