HESX1
Homeobox expressed in ES cells 1
Also known as: ANF, HESX1_HUMAN, RPX
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBX0
- Gene
- HESX1
- Ensembl
- ENSG00000163666
- Chromosome
- 3
- Canonical length
- 185 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
185 residues, UniProt reviewed canonical sequence.
>Q9UBX0|HESX1
1 MSPSLQEGAQ LGENKPSTCS FSIERILGLD QKKDCVPLMK PHRPWADTCS SSGKDGNLCL
61 HVPNPPSGIS FPSVVDHPMP EERASKYENY FSASERLSLK RELSWYRGRR PRTAFTQNQI
121 EVLENVFRVN CYPGIDIRED LAQKLNLEED RIQIWFQNRR AKLKRSHRES QFLMAKKNFN
181 TNLLELocalizationUniProt · AlphaFold · HPA
Whether an antibody against HESX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 5.9 nTPM
Expression across tissuesHPA
Tissue
- testis: 5.9 nTPM
- bone marrow: 5.6 nTPM
- skin: 4 nTPM
- liver: 3.5 nTPM
- epididymis: 3.2 nTPM
- spinal cord: 2.5 nTPM
Single-cell type
- early primary spermatocytes: 76 nCPM
- paneth cells: 19 nCPM
- sertoli cells: 19 nCPM
- undifferentiated spermatogonia: 19 nCPM
- endometrial ciliated cells: 19 nCPM
- adrenal medulla cells: 11 nCPM
Immune cell
- plasmacytoid DC: 1.8 nTPM
- intermediate monocyte: 1.6 nTPM
- neutrophil: 1.3 nTPM
- classical monocyte: 0.8 nTPM
- NK-cell: 0.7 nTPM
- memory B-cell: 0.6 nTPM
Brain region
- cerebellum: 4.4 nTPM
- medulla oblongata: 4.1 nTPM
- pons: 3.7 nTPM
- cerebral cortex: 3.6 nTPM
- white matter: 3.6 nTPM
- spinal cord: 3.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HESX1.
Disease | AllUniProt
Conditions HESX1 is implicated in, by any mechanism.
- Septooptic dysplasia (SOD) MIM:182230
- Growth hormone deficiency with pituitary anomalies (GHDPA) MIM:182230
- Pituitary hormone deficiency, combined, 5 (CPHD5) MIM:182230
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 139 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Septo-optic dysplasia sequence
- GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
- PITUITARY HORMONE DEFICIENCY, COMBINED, 5
- Pituitary hormone deficiency, combined, 1
- Pituitary hormone deficiency
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.24
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.16
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- camera-type eye development
- canonical Wnt signaling pathway
- cellular response to cadmium ion
- ERK1 and ERK2 cascade
- forebrain morphogenesis
- gene expression
- gonad development
- leukemia inhibitory factor signaling pathway
- multicellular organism growth
- negative regulation of transcription by RNA polymerase II
- nose development
- otic vesicle formation
- pituitary gland development
- regulation of embryonic development
- regulation of transcription by RNA polymerase II
- stem cell differentiation
- stem cell population maintenance
- thyroid gland development
Molecular functions
- chromatin binding
- DNA binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Homeodomain
- Homedomain-like superfamily
- Homeobox, conserved site
- Homeodomain
- Homeobox expressed in ES cells 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HESX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HESX1 as an antibody target. Whether an autoantibody or antibody against HESX1 could matter depends on whether native HESX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HESX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HESX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...