Details for: VSX1

Gene ID: 30813

Symbol: VSX1

Ensembl ID: ENSG00000100987

Description: visual system 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: cone retinal bipolar cell (CL0000752)
    Fold Change: 7.0227
    Cell Significance Index: 54.1300
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 3.9301
    Cell Significance Index: 22.0400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 2.8993
    Cell Significance Index: 25.5400
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.4774
    Cell Significance Index: 20.7500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2530
    Cell Significance Index: 30.3500
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: 1.0786
    Cell Significance Index: 13.2000
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.5754
    Cell Significance Index: 6.5000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.5189
    Cell Significance Index: 6.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1802
    Cell Significance Index: 10.1100
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.1317
    Cell Significance Index: 1.5100
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.1248
    Cell Significance Index: 1.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0981
    Cell Significance Index: 35.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0753
    Cell Significance Index: 10.9400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0528
    Cell Significance Index: 0.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0309
    Cell Significance Index: 0.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0257
    Cell Significance Index: 16.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0095
    Cell Significance Index: 0.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0089
    Cell Significance Index: 2.5700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0014
    Cell Significance Index: 0.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0016
    Cell Significance Index: -0.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0020
    Cell Significance Index: -3.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0022
    Cell Significance Index: -4.0800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0025
    Cell Significance Index: -3.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0058
    Cell Significance Index: -2.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0059
    Cell Significance Index: -4.3400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0076
    Cell Significance Index: -4.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0079
    Cell Significance Index: -4.3100
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0097
    Cell Significance Index: -0.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0105
    Cell Significance Index: -0.4900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0143
    Cell Significance Index: -0.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0181
    Cell Significance Index: -3.8200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0203
    Cell Significance Index: -3.4600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0204
    Cell Significance Index: -0.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0229
    Cell Significance Index: -4.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0236
    Cell Significance Index: -2.7000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0239
    Cell Significance Index: -4.3100
  • Cell Name: giant bipolar cell (CL4033035)
    Fold Change: -0.0256
    Cell Significance Index: -0.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0287
    Cell Significance Index: -3.9400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0351
    Cell Significance Index: -4.0900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0362
    Cell Significance Index: -4.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0414
    Cell Significance Index: -3.1800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0426
    Cell Significance Index: -4.4400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0449
    Cell Significance Index: -2.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0597
    Cell Significance Index: -4.0200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0683
    Cell Significance Index: -2.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0706
    Cell Significance Index: -4.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0719
    Cell Significance Index: -3.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0753
    Cell Significance Index: -3.9100
  • Cell Name: diffuse bipolar 6 cell (CL4033032)
    Fold Change: -0.0758
    Cell Significance Index: -0.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0796
    Cell Significance Index: -3.5200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0822
    Cell Significance Index: -1.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0872
    Cell Significance Index: -4.1000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0954
    Cell Significance Index: -1.6500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0959
    Cell Significance Index: -3.6300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0985
    Cell Significance Index: -3.4500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1102
    Cell Significance Index: -4.5100
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.1149
    Cell Significance Index: -1.5000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1163
    Cell Significance Index: -0.9600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1184
    Cell Significance Index: -3.3800
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.1249
    Cell Significance Index: -0.7100
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.1253
    Cell Significance Index: -1.5300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1270
    Cell Significance Index: -1.9000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1290
    Cell Significance Index: -4.0800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1292
    Cell Significance Index: -1.8500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1298
    Cell Significance Index: -1.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1313
    Cell Significance Index: -4.3000
  • Cell Name: diffuse bipolar 3a cell (CL4033029)
    Fold Change: -0.1317
    Cell Significance Index: -1.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1334
    Cell Significance Index: -4.2500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1385
    Cell Significance Index: -3.9700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1392
    Cell Significance Index: -3.7300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1396
    Cell Significance Index: -3.4100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1399
    Cell Significance Index: -4.1200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1445
    Cell Significance Index: -3.4700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1453
    Cell Significance Index: -3.6300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1458
    Cell Significance Index: -2.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1474
    Cell Significance Index: -3.7900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.1523
    Cell Significance Index: -2.1300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1532
    Cell Significance Index: -2.4300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1558
    Cell Significance Index: -4.1600
  • Cell Name: OFFx cell (CL4033036)
    Fold Change: -0.1593
    Cell Significance Index: -1.8100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1612
    Cell Significance Index: -2.0000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1648
    Cell Significance Index: -4.1100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1676
    Cell Significance Index: -4.4100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1688
    Cell Significance Index: -3.4400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1740
    Cell Significance Index: -3.4700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1742
    Cell Significance Index: -4.4500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1751
    Cell Significance Index: -4.4600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1767
    Cell Significance Index: -3.7500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1847
    Cell Significance Index: -3.9900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1860
    Cell Significance Index: -2.1700
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.1861
    Cell Significance Index: -2.1300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1870
    Cell Significance Index: -4.1000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1900
    Cell Significance Index: -4.7400
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.1917
    Cell Significance Index: -2.2200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1937
    Cell Significance Index: -3.5800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1972
    Cell Significance Index: -3.9000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2027
    Cell Significance Index: -4.2300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.2073
    Cell Significance Index: -1.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2116
    Cell Significance Index: -4.1300
  • Cell Name: ON parasol ganglion cell (CL4033052)
    Fold Change: -0.2127
    Cell Significance Index: -2.6500

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** 1. **Transcriptional regulation**: VSX1 acts as a transcription factor, binding to specific DNA sequences to regulate the expression of target genes involved in visual system development. 2. **Neuronal differentiation**: VSX1 is essential for the differentiation of retinal bipolar neurons, a process critical for visual perception. 3. **Cellular specificity**: VSX1 is expressed in various cell types, including progenitor cells, blood vessel endothelial cells, and neurons, highlighting its broad functional scope. 4. **Disease association**: Abnormal expression of VSX1 has been linked to several neurological disorders, including autism spectrum disorder, intellectual disability, and epilepsy. **Pathways and Functions** 1. **Neuron development**: VSX1 regulates the development and differentiation of neurons, particularly in the visual system. 2. **Visual perception**: VSX1 is involved in the differentiation of retinal bipolar neurons, which are essential for visual perception. 3. **Chromatin remodeling**: VSX1 interacts with chromatin remodeling complexes to regulate gene expression and DNA structure. 4. **Transcriptional regulation**: VSX1 binds to specific DNA sequences to regulate the expression of target genes involved in visual system development. **Clinical Significance** 1. **Neurological disorders**: Abnormal expression of VSX1 has been linked to several neurological disorders, including autism spectrum disorder, intellectual disability, and epilepsy. 2. **Visual system development**: VSX1 plays a critical role in the development and differentiation of the visual system, making it a potential therapeutic target for visual impairments. 3. **Cancer association**: VSX1 has been implicated in the development of certain types of cancer, including leukemia and lymphoma, highlighting its potential role in tumorigenesis. 4. **Gene therapy**: Understanding the role of VSX1 in visual system development and disease may lead to the development of gene therapies aimed at correcting or preventing visual impairments. In conclusion, the VSX1 gene is a critical transcription factor involved in the development and differentiation of the visual system. Its dysregulation has been linked to several neurological disorders, highlighting its significance in maintaining proper neural function and development. Further research is needed to fully understand the role of VSX1 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 448789331

Symbol: VSX1_HUMAN

Name: Visual system homeobox 1

UniProtKB Accession Codes:

Q9NZR4 B9EGJ4 D1MF28 Q0GM60 Q0GM61 Q0GM62 Q0GM63 Q0GM64 Q0GM65 Q5TF40 Q5TF41 Q9HCU3 Q9NU27

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 6 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 8 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: 10673340

Title: Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.

PubMed ID: 10673340

DOI: 10.1006/geno.1999.6093

PubMed ID: 10903837

Title: RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina.

PubMed ID: 10903837

DOI: 10.1006/geno.2000.6248

PubMed ID: 18253095

Title: Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.

PubMed ID: 18253095

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 19956409

Title: A novel VSX1 mutation identified in an individual with keratoconus in India.

PubMed ID: 19956409

PubMed ID: 11978762

Title: VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

PubMed ID: 11978762

DOI: 10.1093/hmg/11.9.1029

PubMed ID: 15051220

Title: VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

PubMed ID: 15051220

DOI: 10.1016/j.ophtha.2003.07.006

PubMed ID: 15623752

Title: VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

PubMed ID: 15623752

DOI: 10.1167/iovs.04-0533

PubMed ID: 18216574

Title: Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.

PubMed ID: 18216574

DOI: 10.1097/ico.0b013e31815a50e7

PubMed ID: 19763142

Title: Mutational screening of VSX1 in keratoconus patients from the European population.

PubMed ID: 19763142

DOI: 10.1038/eye.2009.217

PubMed ID: 21976959

Title: Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

PubMed ID: 21976959

Sequence Information:

  • Length: 365
  • Mass: 38431
  • Checksum: C58BE94767D66FCB
  • Sequence:
    • MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG QGSGCEGPAV 
APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC LLLADVPFLP PRGPEPAAPL 
APSRPPPALG RQKRSDSVST SDEDSQSEDR NDLKASPTLG KRKKRRHRTV FTAHQLEELE 
KAFSEAHYPD VYAREMLAVK TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA 
MVRHCIPLPD SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG 
SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN STALEGPQPG 
KVGAT

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.