ZMIZ1 zinc finger MIZ-type containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZMIZ1provided by HGNC
Official Full Name: zinc finger MIZ-type containing 1provided by HGNC
Primary source: HGNC:HGNC:16493
See related: Ensembl:ENSG00000108175 MIM:607159; AllianceGenome:HGNC:16493
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIZ; RAI17; ZIMP10; NEDDFSA; TRAFIP10
Summary: This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in ovary (RPKM 21.7), spleen (RPKM 21.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79068966..79316519)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (79938246..80185863)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (80828723..81076276)

Chromosome 10 - NC_000010.11 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?

Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family.
Title: Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family.
Decreased ZMIZ1 suppresses melanogenesis in vitiligo by regulating mTOR/AKT/GSK-3beta-mediated glucose uptake.
Title: Decreased ZMIZ1 suppresses melanogenesis in vitiligo by regulating mTOR/AKT/GSK-3β-mediated glucose uptake.
Knockdown of circZMIZ1 enhances the anti-tumor activity of CD8[+] T cells to alleviate hepatocellular carcinoma.
Title: Knockdown of circZMIZ1 enhances the anti-tumor activity of CD8(+) T cells to alleviate hepatocellular carcinoma.
Zmiz1 is required for mature beta-cell function and mass expansion upon high fat feeding.
Title: Zmiz1 is required for mature β-cell function and mass expansion upon high fat feeding.
Long non-coding RNA ZMIZ1-AS1 promotes osteosarcoma progression by stabilization of ZMIZ1.
Title: Long non-coding RNA ZMIZ1-AS1 promotes osteosarcoma progression by stabilization of ZMIZ1.
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Title: Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
Title: Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
circular RNA ZMIZ1 is upregulated in prostate cancer cells and promotes cell proliferation
Title: Upregulated circZMIZ1 promotes the proliferation of prostate cancer cells and is a valuable marker in plasma.
ZMIZ1 as a prognostic marker in cancer.
Title: Genome-wide investigation of intragenic DNA methylation identifies ZMIZ1 gene as a prognostic marker in glioblastoma and multiple cancer types.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Title: ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

Associated conditions

Description	Tests
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MedGen: C5231448 OMIM: 618659 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide scan for breast cancer risk haplotypes among African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at five new loci associated with early-onset inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new breast cancer susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. 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

D11S2921 (e-PCR)
- UniSTS:152074

RH68569 (e-PCR)
- UniSTS:14613

D10S219 (e-PCR)
- UniSTS:69152

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-132377 (e-PCR)
- UniSTS:170804

D10S1667 (e-PCR), detects polymorphism
- UniSTS:80437

G28392 (e-PCR)
- UniSTS:7990

sY3084 (e-PCR)
- UniSTS:515126

D10S1625 (e-PCR)
- UniSTS:154174

D10S1379E (e-PCR)
- UniSTS:151375

D10S201 (e-PCR)
- UniSTS:52824

D11S3732 (e-PCR)
- UniSTS:152962

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-151018 (e-PCR)
- UniSTS:173200

RH70293 (e-PCR)
- UniSTS:71836

SHGC-141981 (e-PCR)
- UniSTS:171172

D10S1317E (e-PCR)
- UniSTS:15794

RH121026 (e-PCR)
- UniSTS:134078

Zmiz1 (e-PCR), detects polymorphism
- UniSTS:528072

RH47546 (e-PCR)
- UniSTS:38607

D10S267 (e-PCR)
- UniSTS:147947

SHGC-151109 (e-PCR)
- UniSTS:173296

D10S333 (e-PCR)
- UniSTS:147957

SHGC-152112 (e-PCR)
- UniSTS:177405

D10S201 (e-PCR)
- UniSTS:13822

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables SUMO ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in androgen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in developmental growth	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyramidal neuron migration to cerebral cortex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info
involved_in vitellogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger MIZ domain-containing protein 1

Names: retinoic acid induced 17; zinc finger-containing, Miz1, PIAS-like protein on chromosome 10

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.

Genomic

NG_028289.1 RefSeqGene

Range

4932..252485

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020338.4 → NP_065071.1 zinc finger MIZ domain-containing protein 1

See identical proteins and their annotated locations for NP_065071.1

Status: REVIEWED

Source sequence(s)

AB033050, AL356753, AL358782, AL391665, AY235683, BC007288

Consensus CDS

CCDS7357.1

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6

Related

ENSP00000334474.5, ENST00000334512.10

Conserved Domains (3) summary

pfam09606
Location:184 → 557

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:739 → 786

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

pfam18028
Location:8 → 100

Zmiz1_N; Zmiz1 N-terminal tetratricopeptide repeat 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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

79068966..79316519

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425538.1 → XP_047281494.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_047425539.1 → XP_047281495.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_005269988.4 → XP_005270045.1 zinc finger MIZ domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005270045.1

Conserved Domains (3) summary

pfam09606
Location:184 → 563

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:745 → 792

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

pfam18028
Location:8 → 100

Zmiz1_N; Zmiz1 N-terminal tetratricopeptide repeat domain
XM_006717925.4 → XP_006717988.1 zinc finger MIZ domain-containing protein 1 isoform X3

Conserved Domains (3) summary

pfam09606
Location:184 → 563

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:745 → 792

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

pfam18028
Location:8 → 100

Zmiz1_N; Zmiz1 N-terminal tetratricopeptide repeat domain
XM_047425542.1 → XP_047281498.1 zinc finger MIZ domain-containing protein 1 isoform X4
XM_006717923.4 → XP_006717986.1 zinc finger MIZ domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006717986.1

Conserved Domains (3) summary

pfam09606
Location:184 → 563

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:745 → 792

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

pfam18028
Location:8 → 100

Zmiz1_N; Zmiz1 N-terminal tetratricopeptide repeat domain
XM_047425541.1 → XP_047281497.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_047425543.1 → XP_047281499.1 zinc finger MIZ domain-containing protein 1 isoform X4
XM_006717924.4 → XP_006717987.1 zinc finger MIZ domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006717987.1

Conserved Domains (3) summary

pfam09606
Location:184 → 563

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:745 → 792

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

pfam18028
Location:8 → 100

Zmiz1_N; Zmiz1 N-terminal tetratricopeptide repeat domain
XM_047425540.1 → XP_047281496.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_011539979.2 → XP_011538281.1 zinc finger MIZ domain-containing protein 1 isoform X5

See identical proteins and their annotated locations for XP_011538281.1

Conserved Domains (2) summary

pfam09606
Location:60 → 439

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

cd16791
Location:621 → 668

SP-RING_ZMIZ; SP-RING finger found in zinc finger MIZ domain-containing protein Zmiz1, Zmiz2, and similar proteins

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

79938246..80185863

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366373.1 → XP_054222348.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_054366377.1 → XP_054222352.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_054366372.1 → XP_054222347.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_054366380.1 → XP_054222355.1 zinc finger MIZ domain-containing protein 1 isoform X3
XM_054366382.1 → XP_054222357.1 zinc finger MIZ domain-containing protein 1 isoform X4
XM_054366374.1 → XP_054222349.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_054366379.1 → XP_054222354.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_054366384.1 → XP_054222359.1 zinc finger MIZ domain-containing protein 1 isoform X4
XM_054366375.1 → XP_054222350.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_054366378.1 → XP_054222353.1 zinc finger MIZ domain-containing protein 1 isoform X2

UniProtKB/Swiss-Prot

Q5JSH9, Q7Z7E6, Q9ULJ6
XM_054366376.1 → XP_054222351.1 zinc finger MIZ domain-containing protein 1 isoform X1
XM_054366383.1 → XP_054222358.1 zinc finger MIZ domain-containing protein 1 isoform X4
XM_054366381.1 → XP_054222356.1 zinc finger MIZ domain-containing protein 1 isoform X3
XM_054366385.1 → XP_054222360.1 zinc finger MIZ domain-containing protein 1 isoform X5
XM_054366386.1 → XP_054222361.1 zinc finger MIZ domain-containing protein 1 isoform X5
XM_054366387.1 → XP_054222362.1 zinc finger MIZ domain-containing protein 1 isoform X6