Entity Details

Primary name MN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ10571
EntryNameMN1_HUMAN
FullNameTranscriptional activator MN1
TaxID9606
Evidenceevidence at protein level
Length1320
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesMN1

GO terms

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GOName
GO:0001957 intramembranous ossification
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0033689 negative regulation of osteoblast proliferation
GO:0070564 positive regulation of vitamin D receptor signaling pathway
GO:1902806 regulation of cell cycle G1/S phase transition

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR037644 Transcriptional activator MN1FamilyFamily

Diseases

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Disease IDSourceNameDescription
618774 OMIMCEBALID syndrome (CEBALID)An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery. The disease is caused by variants affecting the gene represented in this entry.
607174 OMIMMeningioma (MNGMA)A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.