Entity Details

Primary name ZMIZ1
Entity type gene
Source Source Link

Details

PrimaryID57178
RefseqGeneNG_028289
SymbolZMIZ1
Namezinc finger MIZ-type containing 1
Chromosome10
Location10q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-10-04
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsZMIZ1_HUMAN

GO terms

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GOName
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0003007 heart morphogenesis
GO:0003713 transcription coactivator activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007296 vitellogenesis
GO:0007569 cell aging
GO:0008270 zinc ion binding
GO:0021852 pyramidal neuron migration to cerebral cortex
GO:0030374 nuclear receptor coactivator activity
GO:0030521 androgen receptor signaling pathway
GO:0033233 regulation of protein sumoylation
GO:0045582 positive regulation of T cell differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046332 SMAD binding
GO:0048096 chromatin-mediated maintenance of transcription
GO:0048146 positive regulation of fibroblast proliferation
GO:0048589 developmental growth
GO:0048844 artery morphogenesis
GO:0060395 SMAD protein signal transduction
GO:1903508 positive regulation of nucleic acid-templated transcription

Diseases

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Disease IDSourceNameDescription
618659 OMIMNeurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA)An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioral abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet. The disease is caused by variants affecting the gene represented in this entry.