Entity Details

Primary name ADNP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H2P0
EntryNameADNP_HUMAN
FullNameActivity-dependent neuroprotector homeobox protein
TaxID9606
Evidenceevidence at protein level
Length1102
SequenceStatuscomplete
DateCreated2002-11-01
DateModified2021-06-02

Ontological Relatives

GenesADNP

GO terms

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GOName
GO:0000785 chromatin
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0010468 regulation of gene expression
GO:0046872 metal ion binding
GO:0090575 RNA polymerase II transcription regulator complex

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR038861 Activity-dependent neuroprotector homeobox proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615873 OMIMHelsmoortel-van der Aa syndrome (HVDAS)A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. The disease is caused by variants affecting the gene represented in this entry.