Entity Details

Primary name MNX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP50219
EntryNameMNX1_HUMAN
FullNameMotor neuron and pancreas homeobox protein 1
TaxID9606
Evidenceevidence at protein level
Length401
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesMNX1

GO terms

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GOName
GO:0000785 chromatin
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0007417 central nervous system development
GO:0021520 spinal cord motor neuron cell fate specification
GO:0031018 endocrine pancreas development
GO:0048812 neuron projection morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain
IPR042768 Homeobox protein MNX1/Ceh-12FamilyFamily

Diseases

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Disease IDSourceNameDescription
176450 OMIMCurrarino syndrome (CURRAS)The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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