Entity Details

Primary name ALX1
Entity type gene
Source Source Link

Details

PrimaryID8092
RefseqGeneNG_023202
SymbolALX1
NameALX homeobox 1
Chromosome12
Location12q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-08-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsALX1_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
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:0001755 neural crest cell migration
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0016604 nuclear body
GO:0042803 protein homodimerization activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048704 embryonic skeletal system morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
613456 OMIMFrontonasal dysplasia 3 (FND3)The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. The disease is caused by variants affecting the gene represented in this entry.

Interactions

20 interactions

InteractorPartnerSourcesPublicationsLink
ALX1IPO13BioGRID, HPRD, IntAct16189514 details
ALX1CLIC3BioGRID, IntAct32296183 details
ALX1UROC1BioGRID, IntAct32296183 details
ALX1PACRGLBioGRID, IntAct32296183 details
ALX1RARABioGRID, IntAct32296183 details
ALX1OR52L1BioGRID, IntAct32296183 details
ALX1APCSBioGRID, IntAct32296183 details
ALX1GRPBioGRID, IntAct32296183 details
ALX1KAT5BioGRID, IntAct32296183 details
ALX1KRTAP4-4BioGRID, IntAct32296183 details
ALX1RBM45BioGRID, IntAct32296183 details
ALX1ZNF300BioGRID, IntAct32296183 details
ALX1EEF1DBioGRID, IntAct32296183 details
ALX1ALX4HPRD, IntAct20211142 9847249 details
ALX1SRA1BioGRID20398657 details
ALX1CREBBPHPRD12929931 details
ALX1EP300HPRD12929931 details
ALX1ZBTB38BioGRID29490077 details
ALX1NR3C1BioGRID31182584 details
ALX1IFNA6IntAct33179750 details