Entity Details

Primary name HXB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP14653
EntryNameHXB1_HUMAN
FullNameHomeobox protein Hox-B1
TaxID9606
Evidenceevidence at protein level
Length301
SequenceStatuscomplete
DateCreated1990-04-01
DateModified2021-06-02

Ontological Relatives

GenesHOXB1

GO terms

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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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain

Diseases

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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.