Details for: GBX1

Gene ID: 2636

Symbol: GBX1

Ensembl ID: ENSG00000164900

Description: gastrulation brain 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: type II muscle cell (CL0002212)
    Fold Change: 0.6898
    Cell Significance Index: 11.1300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.6844
    Cell Significance Index: 16.7000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.5862
    Cell Significance Index: 10.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5350
    Cell Significance Index: 41.0600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.4346
    Cell Significance Index: 5.9600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4002
    Cell Significance Index: 9.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3532
    Cell Significance Index: 9.0800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3321
    Cell Significance Index: 4.8400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.2541
    Cell Significance Index: 2.6300
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.1703
    Cell Significance Index: 2.2300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.1253
    Cell Significance Index: 2.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1150
    Cell Significance Index: 79.5600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1045
    Cell Significance Index: 1.3200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0745
    Cell Significance Index: 1.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0642
    Cell Significance Index: 11.5800
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.0612
    Cell Significance Index: 0.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0543
    Cell Significance Index: 1.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0502
    Cell Significance Index: 7.2900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0371
    Cell Significance Index: 1.7500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0288
    Cell Significance Index: 0.6200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0221
    Cell Significance Index: 0.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0183
    Cell Significance Index: 0.4900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0075
    Cell Significance Index: 0.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0031
    Cell Significance Index: 0.6300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0028
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0027
    Cell Significance Index: 5.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0009
    Cell Significance Index: -1.5700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0011
    Cell Significance Index: -1.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0015
    Cell Significance Index: -2.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0025
    Cell Significance Index: -1.1500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0029
    Cell Significance Index: -1.6100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0032
    Cell Significance Index: -2.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0033
    Cell Significance Index: -2.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0039
    Cell Significance Index: -2.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0052
    Cell Significance Index: -1.8700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0075
    Cell Significance Index: -2.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0085
    Cell Significance Index: -1.0500
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0090
    Cell Significance Index: -0.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0091
    Cell Significance Index: -1.8000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0098
    Cell Significance Index: -0.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0121
    Cell Significance Index: -1.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0124
    Cell Significance Index: -2.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0134
    Cell Significance Index: -2.2900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0142
    Cell Significance Index: -1.4800
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0200
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0216
    Cell Significance Index: -2.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0289
    Cell Significance Index: -1.9400
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0306
    Cell Significance Index: -0.3600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0374
    Cell Significance Index: -0.4800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0383
    Cell Significance Index: -1.3400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0386
    Cell Significance Index: -1.9500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0387
    Cell Significance Index: -0.8100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0416
    Cell Significance Index: -1.7000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0432
    Cell Significance Index: -1.4200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0440
    Cell Significance Index: -0.6500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0441
    Cell Significance Index: -1.9500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0442
    Cell Significance Index: -1.2300
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0445
    Cell Significance Index: -0.6000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0445
    Cell Significance Index: -0.7500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0452
    Cell Significance Index: -1.4400
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0459
    Cell Significance Index: -0.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0471
    Cell Significance Index: -2.9000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0479
    Cell Significance Index: -1.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0491
    Cell Significance Index: -2.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0499
    Cell Significance Index: -2.2600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0500
    Cell Significance Index: -0.4600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0502
    Cell Significance Index: -0.6500
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0516
    Cell Significance Index: -1.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0531
    Cell Significance Index: -0.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0531
    Cell Significance Index: -2.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0555
    Cell Significance Index: -2.8900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0560
    Cell Significance Index: -0.8500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0573
    Cell Significance Index: -1.4300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0636
    Cell Significance Index: -1.3500
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0640
    Cell Significance Index: -0.9100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0651
    Cell Significance Index: -2.0600
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0665
    Cell Significance Index: -0.8700
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0679
    Cell Significance Index: -0.8700
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.0679
    Cell Significance Index: -0.6500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0690
    Cell Significance Index: -0.8100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0717
    Cell Significance Index: -0.6800
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0742
    Cell Significance Index: -0.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0753
    Cell Significance Index: -1.4700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0764
    Cell Significance Index: -1.6500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0764
    Cell Significance Index: -2.1800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0779
    Cell Significance Index: -0.8800
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.0794
    Cell Significance Index: -0.7800
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0804
    Cell Significance Index: -0.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0806
    Cell Significance Index: -1.1000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0810
    Cell Significance Index: -1.6900
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0819
    Cell Significance Index: -0.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0833
    Cell Significance Index: -2.4000
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0847
    Cell Significance Index: -1.6900
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.0860
    Cell Significance Index: -0.8900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0864
    Cell Significance Index: -1.7000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0872
    Cell Significance Index: -1.7500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0875
    Cell Significance Index: -1.7300
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0902
    Cell Significance Index: -1.3500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0908
    Cell Significance Index: -2.4300
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0910
    Cell Significance Index: -1.0700

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. **Cell-specific expression**: GBX1 is specifically expressed in various cell types, including progenitor cells, retinal bipolar neurons, blood vessel endothelial cells, and cardiac muscle cells. 2. **Transcriptional regulation**: GBX1 acts as a transcription factor, regulating the expression of target genes involved in neuronal differentiation, axon guidance, and motor neuron differentiation. 3. **Diverse pathways involvement**: GBX1 is implicated in multiple signaling pathways, including chromatin remodeling, DNA-binding transcription factor activity, and RNA polymerase II-specific transcriptional regulation. 4. **Conserved function**: GBX1 exhibits conserved function across species, suggesting its essential role in the evolution of nervous system development. **Pathways and Functions:** 1. **Neuron fate commitment**: GBX1 regulates the differentiation of neuronal cells, influencing the fate of progenitor cells and the development of motor neurons. 2. **Axon guidance**: GBX1 is involved in the guidance of axons, facilitating the formation of neural connections and the establishment of neural circuits. 3. **Regulation of nervous system development**: GBX1 plays a critical role in the development of the brain and spinal cord, controlling the expression of genes involved in neural patterning and specification. 4. **Transcriptional regulation**: GBX1 acts as a transcriptional regulator, controlling the expression of target genes involved in neuronal differentiation and development. **Clinical Significance:** 1. **Neurodevelopmental disorders**: Mutations in the GBX1 gene have been associated with neurodevelopmental disorders, such as autism spectrum disorder, schizophrenia, and intellectual disability. 2. **Neuropathic pain**: GBX1 has been implicated in the regulation of pain perception, and alterations in GBX1 expression have been linked to neuropathic pain conditions. 3. **Neurodegenerative diseases**: GBX1 may play a role in the development of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, due to its involvement in neuronal differentiation and survival. 4. **Cancer**: GBX1 has been implicated in the regulation of cell proliferation and differentiation, and its expression has been altered in various types of cancer, including glioblastoma and ovarian cancer. In conclusion, the GBX1 gene is a critical regulator of nervous system development and function, with implications for various neurological and psychiatric disorders. Further research is necessary to elucidate the mechanisms by which GBX1 regulates gene expression and cellular differentiation, and to explore the therapeutic potential of targeting GBX1 in the treatment of neurodevelopmental and neurodegenerative diseases.

Genular Protein ID: 42070768

Symbol: GBX1_HUMAN

Name: Homeobox protein GBX-1

UniProtKB Accession Codes:

Q14549

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 EvolutionaryTrace 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 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 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: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 8097731

Title: Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells.

PubMed ID: 8097731

DOI: 10.1016/0014-5793(93)81564-g

Sequence Information:

  • Length: 363
  • Mass: 37629
  • Checksum: 738A37958DBD2E43
  • Sequence:
    • MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM PYRPLVLPQA 
LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA LTTALPSFAE PPDAFYGPQE 
LAAAAAAAAA TAARNNPEPG GRRPEGGLEA DELLPAREKV AEPPPPPPPH FSETFPSLPA 
EGKVYSSDEE KLEASAGDPA GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL 
GTGAEEGAPV TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL 
SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV RSQHQQMEQG 
ARP

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.