Entity Details

Primary name HESX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UBX0
EntryNameHESX1_HUMAN
FullNameHomeobox expressed in ES cells 1
TaxID9606
Evidenceevidence at protein level
Length185
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesHESX1

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:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0008022 protein C-terminus binding
GO:0008406 gonad development
GO:0010467 gene expression
GO:0019827 stem cell population maintenance
GO:0021983 pituitary gland development
GO:0030878 thyroid gland development
GO:0030916 otic vesicle formation
GO:0035264 multicellular organism growth
GO:0042803 protein homodimerization activity
GO:0043010 camera-type eye development
GO:0043584 nose development
GO:0045995 regulation of embryonic development
GO:0047485 protein N-terminus binding
GO:0048853 forebrain morphogenesis
GO:0048861 leukemia inhibitory factor signaling pathway
GO:0048863 stem cell differentiation
GO:0060070 canonical Wnt signaling pathway
GO:0070371 ERK1 and ERK2 cascade
GO:0071276 cellular response to cadmium ion
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
IPR043402 Homeobox expressed in ES cells 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
182230 OMIMSeptooptic dysplasia (SOD)A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The disease is caused by variants affecting the gene represented in this entry.
182230 OMIMSeptooptic dysplasia (SOD)A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The disease is caused by variants affecting the gene represented in this entry.
182230 OMIMSeptooptic dysplasia (SOD)A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The disease is caused by variants affecting the gene represented in this entry.
262600 OMIMPituitary hormone deficiency, combined, 2 (CPHD2)Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.