QuickView for HESX1;jsessionid=497E395204EFE9599DA8A55348DEC517 (gene)
- Gene Symbol:
- HESX1
Homo sapiens - Full name:
- HESX homeobox 1
- Synonyms:
- ANF, CPHD5, RPX, homeobox expressed in ES cells 1, Rathke pouch homeobox, hAnf, homeobox protein ANF
- Genomic Location:
- Chr 3: 57207265-57209320
- Description:
-
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency.
- Orthologs:
- Mus musculus , Rattus norvegicus , C. elegans , Macaca mulatta , Danio rerio , Gallus gallus , Canis lupus familiaris , Pan troglodytes , Bos taurus
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
3p14.3
GO Molecular Function
sequence-specific DNA binding | transcription regulatory region DNA binding | RNA polymerase II transcription factor activity, sequence-specific DNA binding | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | proximal promoter sequence-specific DNA binding | nucleic acid binding | chromatin binding | protein N-terminus binding | RNA polymerase II regulatory region DNA binding | DNA binding | sequence-specific double-stranded DNA binding | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | organic cyclic compound binding | transcription regulatory region sequence-specific DNA binding | protein binding | RNA polymerase II proximal promoter sequence-specific DNA binding | double-stranded DNA binding | DNA-binding transcription factor activity | RNA polymerase II regulatory region sequence-specific DNA binding | transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | heterocyclic compound binding | protein C-terminus binding
GO Biological Process
RNA metabolic process | brain development | inner ear morphogenesis | otic vesicle development | morphogenesis of an epithelium | forebrain morphogenesis | negative regulation of cellular process | RNA polymerase II transcription factor activity, sequence-specific DNA binding | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | negative regulation of RNA biosynthetic process | otic vesicle formation | nervous system development | cellular process | epithelial tube morphogenesis | negative regulation of nucleic acid-templated transcription | diencephalon development | negative regulation of cellular metabolic process | tissue development | regulation of cellular process | regulation of metabolic process | pituitary gland development | organic cyclic compound metabolic process | RNA biosynthetic process | epithelium development | cellular aromatic compound metabolic process | head development | respiratory system development | cellular nitrogen compound biosynthetic process | tube morphogenesis | epithelial tube formation | cellular nitrogen compound metabolic process | brain morphogenesis | negative regulation of metabolic process | cellular biosynthetic process | embryo development | regulation of nucleic acid-templated transcription | system development | nitrogen compound metabolic process | multicellular organism development | regulation of gene expression | animal organ morphogenesis | regulation of nitrogen compound metabolic process | nose development | regulation of transcription by RNA polymerase II | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | biosynthetic process | aromatic compound biosynthetic process | endocrine system development | sensory organ development | regulation of cellular metabolic process | inner ear development | regulation of RNA metabolic process | embryonic morphogenesis | embryonic organ morphogenesis | DNA-binding transcription factor activity | gland development | tissue morphogenesis | anatomical structure development | metabolic process | regulation of RNA biosynthetic process | negative regulation of transcription, DNA-templated | embryonic organ development | ear development | transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding | nucleobase-containing compound metabolic process | organic substance metabolic process | negative regulation of biosynthetic process | negative regulation of gene expression | animal organ development | forebrain development | gene expression | transcription, DNA-templated | anatomical structure formation involved in morphogenesis | regulation of transcription, DNA-templated | anatomical structure morphogenesis | cellular macromolecule biosynthetic process | developmental process | negative regulation of transcription by RNA polymerase II | tube development | heterocycle metabolic process | tube formation | central nervous system development | cellular metabolic process | ear morphogenesis | otic vesicle morphogenesis | macromolecule metabolic process | multicellular organismal process
GO Cellular Component
intracellular membrane-bounded organelle | cell | intracellular organelle | membrane-bounded organelle | nucleus | organelle | intracellular
