Details for: HESX1

Gene ID: 8820

Symbol: HESX1

Ensembl ID: ENSG00000163666

Description: HESX homeobox 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 30.3449
    Cell Significance Index: -4.7200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 13.5623
    Cell Significance Index: -3.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 9.6983
    Cell Significance Index: -3.9400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6497
    Cell Significance Index: 17.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5798
    Cell Significance Index: 110.3500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.4783
    Cell Significance Index: 6.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4484
    Cell Significance Index: 9.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4389
    Cell Significance Index: 43.4200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2887
    Cell Significance Index: 4.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2826
    Cell Significance Index: 255.1600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2512
    Cell Significance Index: 15.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2503
    Cell Significance Index: 27.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2165
    Cell Significance Index: 35.2100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.2118
    Cell Significance Index: 1.8000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.1777
    Cell Significance Index: 2.5300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1538
    Cell Significance Index: 3.1900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1475
    Cell Significance Index: 3.2300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1319
    Cell Significance Index: 2.2600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1048
    Cell Significance Index: 1.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1025
    Cell Significance Index: 7.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0933
    Cell Significance Index: 18.5100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0887
    Cell Significance Index: 12.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0878
    Cell Significance Index: 3.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0860
    Cell Significance Index: 24.7400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0656
    Cell Significance Index: 13.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0635
    Cell Significance Index: 1.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0536
    Cell Significance Index: 3.0100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0416
    Cell Significance Index: 28.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0326
    Cell Significance Index: 5.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0300
    Cell Significance Index: 0.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0216
    Cell Significance Index: 7.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0190
    Cell Significance Index: 2.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0154
    Cell Significance Index: 1.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0132
    Cell Significance Index: 24.3100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0116
    Cell Significance Index: 0.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0105
    Cell Significance Index: 19.7200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0084
    Cell Significance Index: 4.5800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0079
    Cell Significance Index: 12.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0069
    Cell Significance Index: 9.3800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0054
    Cell Significance Index: 0.2800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0044
    Cell Significance Index: 0.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0040
    Cell Significance Index: 2.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0033
    Cell Significance Index: 0.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0002
    Cell Significance Index: -0.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0019
    Cell Significance Index: -0.8300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0036
    Cell Significance Index: -0.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0039
    Cell Significance Index: -1.7900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0047
    Cell Significance Index: -3.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0052
    Cell Significance Index: -3.8200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0054
    Cell Significance Index: -0.6900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0060
    Cell Significance Index: -4.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0062
    Cell Significance Index: -0.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0070
    Cell Significance Index: -3.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0078
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0081
    Cell Significance Index: -5.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0086
    Cell Significance Index: -1.4700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0118
    Cell Significance Index: -0.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0126
    Cell Significance Index: -1.7400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0169
    Cell Significance Index: -0.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0176
    Cell Significance Index: -0.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0177
    Cell Significance Index: -1.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0226
    Cell Significance Index: -2.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0227
    Cell Significance Index: -4.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0230
    Cell Significance Index: -2.9700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0307
    Cell Significance Index: -0.8200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0331
    Cell Significance Index: -2.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0349
    Cell Significance Index: -3.6300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0391
    Cell Significance Index: -4.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0415
    Cell Significance Index: -2.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0475
    Cell Significance Index: -3.5400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0479
    Cell Significance Index: -1.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0486
    Cell Significance Index: -2.2900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0527
    Cell Significance Index: -0.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0530
    Cell Significance Index: -4.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0563
    Cell Significance Index: -3.4600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0579
    Cell Significance Index: -1.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0630
    Cell Significance Index: -1.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0646
    Cell Significance Index: -1.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0678
    Cell Significance Index: -3.5300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0692
    Cell Significance Index: -1.1600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0696
    Cell Significance Index: -2.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0737
    Cell Significance Index: -3.2600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0801
    Cell Significance Index: -1.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0818
    Cell Significance Index: -2.6200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0820
    Cell Significance Index: -2.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0834
    Cell Significance Index: -2.2700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0840
    Cell Significance Index: -3.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0851
    Cell Significance Index: -4.3000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0904
    Cell Significance Index: -2.8800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0919
    Cell Significance Index: -3.0100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0928
    Cell Significance Index: -3.2500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0963
    Cell Significance Index: -1.3000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0990
    Cell Significance Index: -1.1800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0990
    Cell Significance Index: -1.2400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1032
    Cell Significance Index: -2.1900
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1035
    Cell Significance Index: -1.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1037
    Cell Significance Index: -2.1700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1089
    Cell Significance Index: -1.5600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1090
    Cell Significance Index: -3.1100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** HESX1 is a homeobox-containing transcription factor that belongs to the SOX family of proteins. It is highly conserved across species, with a high degree of sequence similarity between human and mouse orthologs. The gene is primarily expressed in the forebrain, pituitary gland, and retina, where it plays a crucial role in the development and differentiation of these tissues. HESX1 is also expressed in other tissues, including the colon, thyroid gland, and gonads, where it regulates the expression of genes involved in cell growth, differentiation, and survival. **Pathways and Functions:** HESX1 is involved in the regulation of numerous developmental pathways, including: 1. **Canonical Wnt signaling pathway**: HESX1 acts as a negative regulator of the Wnt/β-catenin pathway, which is essential for cell proliferation, differentiation, and survival. 2. **Forebrain morphogenesis**: HESX1 regulates the expression of genes involved in forebrain development, including the specification of neural stem cells and the differentiation of neurons. 3. **Pituitary gland development**: HESX1 is essential for the development and function of the pituitary gland, which regulates hormone secretion and growth. 4. **Eye development**: HESX1 is involved in the development of the camera-type eye, including the specification of retinal cells and the formation of the optic cup. 5. **Stem cell differentiation**: HESX1 regulates the expression of genes involved in stem cell differentiation, including the specification of neural stem cells and the differentiation of neurons. **Clinical Significance:** Dysregulation of HESX1 has been implicated in various diseases, including: 1. **Pituitary gland disorders**: Mutations in HESX1 have been associated with pituitary gland hypoplasia and other disorders. 2. **Eye disorders**: HESX1 mutations have been linked to congenital eye abnormalities, including anophthalmia and coloboma. 3. **Neurodegenerative diseases**: HESX1 dysregulation has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. 4. **Cancer**: HESX1 is involved in the regulation of cell growth and differentiation, and its dysregulation has been implicated in various types of cancer, including leukemia and lymphoma. In conclusion, the HESX1 gene is a critical regulator of developmental processes and disease pathogenesis. Its dysregulation has been implicated in various diseases, and further research is needed to fully understand the mechanisms underlying its role in human disease.

Genular Protein ID: 194486757

Symbol: HESX1_HUMAN

Name: Homeobox expressed in ES cells 1

UniProtKB Accession Codes:

Q9UBX0 Q52LC5 Q99667

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 6 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9620767

Title: Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

PubMed ID: 9620767

DOI: 10.1038/477

PubMed ID: 9373136

Title: Anf: a novel class of vertebrate homeobox genes expressed at the anterior end of the main embryonic axis.

PubMed ID: 9373136

DOI: 10.1016/s0378-1119(97)00326-0

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11731482

Title: Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis.

PubMed ID: 11731482

DOI: 10.1101/gad.932601

PubMed ID: 19561080

Title: Role of conserved salt bridges in homeodomain stability and DNA binding.

PubMed ID: 19561080

DOI: 10.1074/jbc.m109.012054

PubMed ID: 11136712

Title: Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

PubMed ID: 11136712

DOI: 10.1093/hmg/10.1.39

PubMed ID: 14561704

Title: A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

PubMed ID: 14561704

DOI: 10.1172/jci18589

PubMed ID: 17148560

Title: HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

PubMed ID: 17148560

DOI: 10.1210/jc.2006-1609

PubMed ID: 26781211

Title: A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

PubMed ID: 26781211

DOI: 10.1507/endocrj.ej15-0409

Sequence Information:

  • Length: 185
  • Mass: 21409
  • Checksum: 1F23D319EB4FDBF0
  • Sequence:
    • MSPSLQEGAQ LGENKPSTCS FSIERILGLD QKKDCVPLMK PHRPWADTCS SSGKDGNLCL 
HVPNPPSGIS FPSVVDHPMP EERASKYENY FSASERLSLK RELSWYRGRR PRTAFTQNQI 
EVLENVFRVN CYPGIDIRED LAQKLNLEED RIQIWFQNRR AKLKRSHRES QFLMAKKNFN 
TNLLE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.