Entity Details

Primary name HOXB1
Entity type gene
Source Source Link

Details

PrimaryID3211
RefseqGeneNG_032884
SymbolHOXB1
Namehomeobox B1
Chromosome17
Location17q21.32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHXB1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-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:0003677 DNA binding
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0009952 anterior/posterior pattern specification
GO:0019904 protein domain specific binding
GO:0021570 rhombomere 4 development
GO:0021571 rhombomere 5 development
GO:0021612 facial nerve structural organization
GO:0021754 facial nucleus development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614744 OMIMFacial paresis, hereditary congenital, 3 (HCFP3)A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. The disease is caused by variants affecting the gene represented in this entry.