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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p14.3
Chromosome location (bp)
57197838 - 57227606
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q9UBX0 [Direct mapping] Homeobox expressed in ES cells 1
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A1LQR0 [Target identity:100%; Query identity:100%] Homeobox expressed in ES cells 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] 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:0016055[Wnt signaling pathway] GO:0019827[stem cell population maintenance] GO:0021983[pituitary gland development] GO:0030878[thyroid gland development] GO:0030900[forebrain development] GO:0030916[otic vesicle formation] GO:0035264[multicellular organism growth] GO:0042803[protein homodimerization activity] GO:0043010[camera-type eye development] GO:0043565[sequence-specific DNA binding] GO:0043584[nose development] GO:0045892[negative regulation of DNA-templated transcription] 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]
C9J0A9 [Direct mapping] Homeobox expressed in ES cells 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases
J3KR67 [Direct mapping] Homeobox-expressed in ES cells 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases
Q9UBX0 [Direct mapping] Homeobox expressed in ES cells 1
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A1LQR0 [Target identity:100%; Query identity:100%] Homeobox expressed in ES cells 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007420[brain development] GO:0021983[pituitary gland development] GO:0030900[forebrain development] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
