Entity Details

Primary name ASXL3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0F0
EntryNameASXL3_HUMAN
FullNamePutative Polycomb group protein ASXL3
TaxID9606
Evidenceevidence at transcript level
Length2248
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesASXL3

GO terms

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GOName
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0006351 transcription, DNA-templated
GO:0009887 animal organ morphogenesis
GO:0035517 PR-DUB complex
GO:0042975 peroxisome proliferator activated receptor binding
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0051055 negative regulation of lipid biosynthetic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR007759 ASXL, HARE-HTH domainDomainDomain
IPR024811 Polycomb protein ASX/ASX-likeFamilyFamily
IPR024818 ASX-like protein 3FamilyFamily
IPR026905 Protein ASX-like, PHD domainDomainDomain
IPR028020 ASX, DEUBAD domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615485 OMIMBainbridge-Ropers syndrome (BRPS)A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
ASXL3_HUMANCLK1_HUMANBioGRID26167880 details
ASXL3_HUMANBAP1_HUMANBioGRID26647312 details