ZMIZ1 - zinc finger MIZ-type containing 1 Gene

Also Known as MIZ; RAI17; ZIMP10; NEDDFSA; TRAFIP10

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57178

About ZMIZ1

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:79,068,966-79,316,519 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 21.7), spleen (RPKM 21.6) and 25 other tissues.

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]

ZMIZ1 Products (1)

mRNA Protein Name
NM_020338.4 NP_065071.1 zinc finger MIZ domain-containing protein 1
Molecular Function GO Annotation Evidence References Source
enables SMAD binding IPI
IPI: Inferred from physical interaction
16777850 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
14609956 GOA
Biological Process GO Annotation Evidence References Source
involved in SMAD protein signal transduction IDA
IDA: Inferred from direct assay
16777850 GOA
involved in androgen receptor signaling pathway IDA
IDA: Inferred from direct assay
14609956 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
14609956 GOA
involved in pyramidal neuron migration to cerebral cortex IMP
IMP: Inferred from mutant phenotype
30639322 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
16777850 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14609956 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
14609956 GOA
located in nucleus IDA
IDA: Inferred from direct assay
30639322 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ZMIZ1 Protein Structure

zf-MIZ

zf-MIZ: MIZ/SP-RING zinc finger (738 - 786)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1067 a.a.
Protein Preferred Names Protein Names

zinc finger MIZ domain-containing protein 1

  • retinoic acid induced 17

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
  • NEDDFSA

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Inflammatory Bowel Disease 24
  • IBD24

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ZMIZ1 MGD MGI:3040693
Bos taurus ZMIZ1 VGNC VGNC:37195
Macaca mulatta ZMIZ1 VGNC VGNC:79036
Rattus norvegicus ZMIZ1 RGD RGD:1311620
Canis familiaris ZMIZ1 VGNC VGNC:48643
Others ZMIZ1 NCBI