Details for: VAX1

Gene ID: 11023

Symbol: VAX1

Ensembl ID: ENSG00000148704

Description: ventral anterior homeobox 1

Associated with

  • Astrocyte differentiation
    (GO:0048708)
  • Axon guidance
    (GO:0007411)
  • Brain development
    (GO:0007420)
  • Camera-type eye development
    (GO:0043010)
  • Central nervous system development
    (GO:0007417)
  • Chromatin
    (GO:0000785)
  • Chromatin dna binding
    (GO:0031490)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Negative regulation of neuroblast proliferation
    (GO:0007406)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Neuroblast proliferation
    (GO:0007405)
  • Neuroepithelial cell differentiation
    (GO:0060563)
  • Neuron differentiation
    (GO:0030182)
  • Neuron migration
    (GO:0001764)
  • Nucleus
    (GO:0005634)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii intronic transcription regulatory region sequence-specific dna binding
    (GO:0001162)
  • Roof of mouth development
    (GO:0060021)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal muscle cell differentiation
    (GO:0035914)

Cells (max top 100)

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

  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 7.02
    Marker Score: 3,888
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 4.35
    Marker Score: 6,000
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.12
    Marker Score: 3,142
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 2.45
    Marker Score: 1,392
  • Cell Name: T cell (CL0000084)
    Fold Change: 2.24
    Marker Score: 3,859
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.17
    Marker Score: 1,142
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 2.08
    Marker Score: 8,056
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.94
    Marker Score: 2,166
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.44
    Marker Score: 949
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.18
    Marker Score: 1,123
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7,691
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,737
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,937
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.99
    Marker Score: 414
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,402
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,336
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,292
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.86
    Marker Score: 500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 402
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.76
    Marker Score: 1,568
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.69
    Marker Score: 1,114
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.69
    Marker Score: 671
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.67
    Marker Score: 24,828
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.67
    Marker Score: 709
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 519
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.58
    Marker Score: 144
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.58
    Marker Score: 337
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.56
    Marker Score: 141
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.52
    Marker Score: 145
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.5
    Marker Score: 9,957
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.5
    Marker Score: 548
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.48
    Marker Score: 138
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.45
    Marker Score: 415
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.45
    Marker Score: 144
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.44
    Marker Score: 115
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.42
    Marker Score: 376
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.42
    Marker Score: 130
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.38
    Marker Score: 199
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.37
    Marker Score: 431
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.36
    Marker Score: 1,123
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.36
    Marker Score: 113
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.35
    Marker Score: 201
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.35
    Marker Score: 704
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.33
    Marker Score: 122
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3
    Marker Score: 575
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.3
    Marker Score: 260
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.29
    Marker Score: 1,206
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.29
    Marker Score: 141
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.28
    Marker Score: 657
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.27
    Marker Score: 4,298
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.27
    Marker Score: 136
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.27
    Marker Score: 730
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.27
    Marker Score: 98
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.26
    Marker Score: 121
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.26
    Marker Score: 120
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.26
    Marker Score: 627
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.25
    Marker Score: 145
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.24
    Marker Score: 145
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.23
    Marker Score: 142
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.23
    Marker Score: 285
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.22
    Marker Score: 8,490
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.22
    Marker Score: 170
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.22
    Marker Score: 145
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.22
    Marker Score: 145
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.21
    Marker Score: 144
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 91
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.2
    Marker Score: 944
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.2
    Marker Score: 1,269
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.2
    Marker Score: 134
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.19
    Marker Score: 150
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.19
    Marker Score: 102
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.19
    Marker Score: 189
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.18
    Marker Score: 333
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.18
    Marker Score: 114
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.18
    Marker Score: 1,095
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.18
    Marker Score: 144
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.17
    Marker Score: 143
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.17
    Marker Score: 186
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.17
    Marker Score: 303
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.16
    Marker Score: 77
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.15
    Marker Score: 144
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.15
    Marker Score: 91
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.15
    Marker Score: 614
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.15
    Marker Score: 145
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.13
    Marker Score: 137
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.13
    Marker Score: 179
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.12
    Marker Score: 142
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.12
    Marker Score: 145
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.11
    Marker Score: 146
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.1
    Marker Score: 134
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.1
    Marker Score: 145
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.09
    Marker Score: 146
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.09
    Marker Score: 314
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.09
    Marker Score: 134

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** VAX1 is a member of the homeobox gene family, which is characterized by the presence of a homeobox domain. The VAX1 gene is specifically expressed in the ventral anterior region of the embryo, from which it derives its name. The protein product of VAX1, VAX1_HUMAN, is a transcription factor that binds to specific DNA sequences, regulating the expression of target genes. One of the key characteristics of VAX1 is its ability to act as a negative regulator of neuroblast proliferation and neuroepithelial cell differentiation. This suggests that VAX1 plays a role in limiting the expansion of neural progenitor cells and promoting their differentiation into mature neurons. **Pathways and Functions** VAX1 is involved in several key developmental pathways, including: 1. **Astrocyte differentiation**: VAX1 regulates the expression of genes involved in astrocyte differentiation, which is essential for the formation of the central nervous system. 2. **Axon guidance**: VAX1 influences the expression of genes involved in axon guidance, which is critical for the proper formation and connectivity of neural circuits. 3. **Brain development**: VAX1 plays a role in regulating the expression of genes involved in brain development, including the formation of the cerebral cortex and the development of neural stem cells. 4. **Skeletal muscle cell differentiation**: VAX1 regulates the expression of genes involved in skeletal muscle cell differentiation, which is essential for the development of muscle tissue. In addition to its role in developmental processes, VAX1 has been implicated in the regulation of gene expression in response to DNA damage. VAX1 acts as a transcriptional repressor, binding to specific DNA sequences and inhibiting the expression of genes involved in cell proliferation and survival. **Clinical Significance** Dysregulation of VAX1 has been implicated in several diseases, including: 1. **Neurodevelopmental disorders**: Mutations in the VAX1 gene have been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. 2. **Cancer**: VAX1 has been implicated in the regulation of gene expression in cancer cells, and its dysregulation has been associated with tumorigenesis. 3. **Immune system disorders**: VAX1 has been implicated in the regulation of immune cell development and function, and its dysregulation has been associated with immune system disorders, such as leukemia and lymphoma. In conclusion, VAX1 is a transcription factor gene that plays a critical role in various developmental processes, including brain development, axon guidance, and skeletal muscle cell differentiation. Its dysregulation has been implicated in several diseases, highlighting the importance of this gene in maintaining tissue homeostasis and preventing disease.

Genular Protein ID: 1997723843

Symbol: VAX1_HUMAN

Name: Ventral anterior homeobox 1

UniProtKB Accession Codes:

Q5SQQ9 B1AVW5 Q6ZSX0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 GO 21 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 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 2 SAM 1 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: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 22095910

Title: VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans.

PubMed ID: 22095910

DOI: 10.1002/humu.21658

Sequence Information:

  • Length: 334
  • Mass: 34713
  • Checksum: 927FCADCFE937C12
  • Sequence:
    • MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA FSASGAAEDC 
NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP KRTRTSFTAE QLYRLEMEFQ 
RCQYVVGRER TELARQLNLS ETQVKVWFQN RRTKQKKDQG KDSELRSVVS ETAATCSVLR 
LLEQGRLLSP PGLPALLPPC ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA 
SPHPPAVGGA PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA 
GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALD

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.