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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
Title: Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

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

SHGC-74246 (e-PCR)
- UniSTS:60943

A005O01 (e-PCR)
- UniSTS:60944

D1S1336 (e-PCR)
- UniSTS:149533

STS-AA013259 (e-PCR)
- UniSTS:43369

RH70580 (e-PCR)
- UniSTS:70253

RH64190 (e-PCR)
- UniSTS:61338

SHGC-31102 (e-PCR)
- UniSTS:74396

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)

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
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
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
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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

15941869..15976101 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

15383149..15417408 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338631.1 → XP_054194606.1 zinc finger and BTB domain-containing protein 17 isoform X2
XM_054338633.1 → XP_054194608.1 zinc finger and BTB domain-containing protein 17 isoform X3
XM_054338630.1 → XP_054194605.1 zinc finger and BTB domain-containing protein 17 isoform X1
XM_054338632.1 → XP_054194607.1 zinc finger and BTB domain-containing protein 17 isoform X2