Entity Details

Primary name LMX1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TE12
EntryNameLMX1A_HUMAN
FullNameLIM homeobox transcription factor 1-alpha
TaxID9606
Evidenceevidence at protein level
Length382
SequenceStatuscomplete
DateCreated2003-01-27
DateModified2021-06-02

Ontological Relatives

GenesLMX1A

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001558 regulation of cell growth
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007411 axon guidance
GO:0007613 memory
GO:0007626 locomotory behavior
GO:0021542 dentate gyrus development
GO:0021549 cerebellum development
GO:0030182 neuron differentiation
GO:0042048 olfactory behavior
GO:0045665 negative regulation of neuron differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0050808 synapse organization
GO:0071542 dopaminergic neuron differentiation
GO:1904948 midbrain dopaminergic neuron differentiation
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
IPR001781 Zinc finger, LIM-typeDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR042688 Lmx1a, first LIM domainDomainDomain

Diseases

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Disease IDSourceNameDescription
601412 OMIMDeafness, autosomal dominant, 7 (DFNA7)A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. The disease is caused by variants affecting the gene represented in this entry.