Entity Details

Primary name AHDC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5TGY3
EntryNameAHDC1_HUMAN
FullNameAT-hook DNA-binding motif-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length1603
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesAHDC1

GO terms

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GOName
GO:0003677 DNA binding

Subcellular Location

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Domains

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DomainNameCategoryType
IPR032757 Domain of unknown function DUF4683DomainDomain
IPR039225 AT-hook DNA-binding motif-containing protein 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
615829 OMIMXia-Gibbs syndrome (XIGIS)An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination. The disease is caused by variants affecting the gene represented in this entry.