GLI3 | ENSG00000106571 | NCBI 2737

Details for: GLI3

Gene ID: 2737

Symbol: GLI3

Ensembl ID: ENSG00000106571

Description: GLI family zinc finger 3

Associated with

Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Gli3 is processed to gli3r by the proteasome
(R-HSA-5610785)
Gli proteins bind promoters of hh responsive genes to promote transcription
(R-HSA-5635851)
Hedgehog 'off' state
(R-HSA-5610787)
Hedgehog 'on' state
(R-HSA-5632684)
Rna polymerase ii transcription
(R-HSA-73857)
Runx2 regulates bone development
(R-HSA-8941326)
Runx2 regulates osteoblast differentiation
(R-HSA-8940973)
Signaling by hedgehog
(R-HSA-5358351)
Signal transduction
(R-HSA-162582)
Transcriptional regulation by runx2
(R-HSA-8878166)
Alpha-beta t cell differentiation
(GO:0046632)
Anterior/posterior pattern specification
(GO:0009952)
Anterior semicircular canal development
(GO:0060873)
Artery development
(GO:0060840)
Axon guidance
(GO:0007411)
Beta-catenin binding
(GO:0008013)
Branching involved in ureteric bud morphogenesis
(GO:0001658)
Camera-type eye morphogenesis
(GO:0048593)
Cell differentiation involved in kidney development
(GO:0061005)
Chondrocyte differentiation
(GO:0002062)
Chromatin binding
(GO:0003682)
Developmental growth
(GO:0048589)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Embryonic digestive tract development
(GO:0048566)
Embryonic digestive tract morphogenesis
(GO:0048557)
Embryonic digit morphogenesis
(GO:0042733)
Embryonic neurocranium morphogenesis
(GO:0048702)
Forebrain dorsal/ventral pattern formation
(GO:0021798)
Forebrain radial glial cell differentiation
(GO:0021861)
Frontal suture morphogenesis
(GO:0060364)
Heart development
(GO:0007507)
Hindgut morphogenesis
(GO:0007442)
Hippocampus development
(GO:0021766)
Histone acetyltransferase binding
(GO:0035035)
Histone deacetylase binding
(GO:0042826)
In utero embryonic development
(GO:0001701)
Lambdoid suture morphogenesis
(GO:0060366)
Larynx morphogenesis
(GO:0120223)
Lateral ganglionic eminence cell proliferation
(GO:0022018)
Lateral semicircular canal development
(GO:0060875)
Layer formation in cerebral cortex
(GO:0021819)
Limb morphogenesis
(GO:0035108)
Lung development
(GO:0030324)
Mammary gland specification
(GO:0060594)
Mediator complex binding
(GO:0036033)
Melanocyte differentiation
(GO:0030318)
Metal ion binding
(GO:0046872)
Metanephros development
(GO:0001656)
Negative regulation of alpha-beta t cell differentiation
(GO:0046639)
Negative regulation of apoptotic process
(GO:0043066)
Negative regulation of canonical wnt signaling pathway
(GO:0090090)
Negative regulation of chondrocyte differentiation
(GO:0032331)
Negative regulation of dna-templated transcription
(GO:0045892)
Negative regulation of neuron differentiation
(GO:0045665)
Negative regulation of smoothened signaling pathway
(GO:0045879)
Negative regulation of stem cell proliferation
(GO:2000647)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Negative thymic t cell selection
(GO:0045060)
Neuroblast proliferation
(GO:0007405)
Nose morphogenesis
(GO:0043585)
Odontogenesis of dentin-containing tooth
(GO:0042475)
Oligodendrocyte differentiation
(GO:0048709)
Optic nerve morphogenesis
(GO:0021631)
Osteoblast differentiation
(GO:0001649)
Positive regulation of alpha-beta t cell differentiation
(GO:0046638)
Positive regulation of chondrocyte differentiation
(GO:0032332)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of neuroblast proliferation
(GO:0002052)
Positive regulation of osteoblast differentiation
(GO:0045669)
Positive regulation of protein import into nucleus
(GO:0042307)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Protein import into nucleus
(GO:0006606)
Protein processing
(GO:0016485)
Proximal/distal pattern formation
(GO:0009954)
Regulation of bone development
(GO:1903010)
Regulation of dna-templated transcription
(GO:0006355)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Rna polymerase ii transcription regulatory region sequence-specific dna binding
(GO:0000977)
Roof of mouth development
(GO:0060021)
Sagittal suture morphogenesis
(GO:0060367)
Sequence-specific double-stranded dna binding
(GO:1990837)
Smoothened signaling pathway
(GO:0007224)
Smoothened signaling pathway involved in dorsal/ventral neural tube patterning
(GO:0060831)
Smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
(GO:0021776)
Smoothened signaling pathway involved in ventral spinal cord interneuron specification
(GO:0021775)
Stem cell proliferation
(GO:0072089)
T cell differentiation in thymus
(GO:0033077)
Thymocyte apoptotic process
(GO:0070242)
Tongue development
(GO:0043586)
Vocalization behavior
(GO:0071625)

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: smooth muscle fiber of ileum (CL1000278)
Fold Change: 63.2675
Cell Significance Index: -29.8700
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 10.9020
Cell Significance Index: -23.8600
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 7.6177
Cell Significance Index: -30.0600
Cell Name: preadipocyte (CL0002334)
Fold Change: 5.5310
Cell Significance Index: 107.9500
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 4.9146
Cell Significance Index: 275.7800
Cell Name: hippocampal astrocyte (CL0002604)
Fold Change: 4.6376
Cell Significance Index: 64.8500
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 3.0478
Cell Significance Index: 81.3800
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.6667
Cell Significance Index: 22.7400
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 1.5368
Cell Significance Index: 32.8500
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 1.3429
Cell Significance Index: 67.8700
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1.2377
Cell Significance Index: 34.5900
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.9873
Cell Significance Index: 60.5300
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.8876
Cell Significance Index: 28.4300
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.6887
Cell Significance Index: 14.9200
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.4933
Cell Significance Index: 218.1200
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.4469
Cell Significance Index: 34.3000
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.4188
Cell Significance Index: 79.7100
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.3867
Cell Significance Index: 2.6200
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.3661
Cell Significance Index: 6.3300
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.3326
Cell Significance Index: 626.1700
Cell Name: odontoblast (CL0000060)
Fold Change: 0.3105
Cell Significance Index: 39.8000
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.2973
Cell Significance Index: 13.4800
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.2907
Cell Significance Index: 184.6000
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.2237
Cell Significance Index: 5.7500
Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.2117
Cell Significance Index: 14.9700
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1641
Cell Significance Index: 7.2600
Cell Name: keratocyte (CL0002363)
Fold Change: 0.1437
Cell Significance Index: 2.2800
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1388
Cell Significance Index: 19.0600
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.1387
Cell Significance Index: 125.2700
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0964
Cell Significance Index: 3.6500
Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: 0.0894
Cell Significance Index: 0.5500
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.0719
Cell Significance Index: 8.8400
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0427
Cell Significance Index: 0.6600
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0406
Cell Significance Index: 7.3100
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0268
Cell Significance Index: 41.2600
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.0256
Cell Significance Index: 0.3900
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.0088
Cell Significance Index: 1.4400
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.0049
Cell Significance Index: 0.4800
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: -0.0052
Cell Significance Index: -0.0800
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: -0.0070
Cell Significance Index: -4.8300
Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0089
Cell Significance Index: -16.3600
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0118
Cell Significance Index: -1.7200
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0231
Cell Significance Index: -0.8100
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0233
Cell Significance Index: -10.5700
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0234
Cell Significance Index: -31.8500
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0350
Cell Significance Index: -25.9500
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0367
Cell Significance Index: -13.1600
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0368
Cell Significance Index: -0.7700
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0373
Cell Significance Index: -28.2400
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0393
Cell Significance Index: -28.8300
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0498
Cell Significance Index: -31.0700
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0526
Cell Significance Index: -28.7500
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0648
Cell Significance Index: -36.5500
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: -0.0687
Cell Significance Index: -7.4700
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0711
Cell Significance Index: -1.1900
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0739
Cell Significance Index: -2.1300
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0856
Cell Significance Index: -6.3800
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0904
Cell Significance Index: -18.1400
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1014
Cell Significance Index: -29.1800
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1020
Cell Significance Index: -2.5500
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.1077
Cell Significance Index: -21.3800
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.1592
Cell Significance Index: -8.2700
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: -0.1593
Cell Significance Index: -0.9900
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1807
Cell Significance Index: -38.0500
Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.1881
Cell Significance Index: -11.2900
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.1936
Cell Significance Index: -13.3900
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.2164
Cell Significance Index: -36.9500
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: -0.2245
Cell Significance Index: -2.8800
Cell Name: lactocyte (CL0002325)
Fold Change: -0.2311
Cell Significance Index: -29.8600
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: -0.2380
Cell Significance Index: -1.7300
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.2389
Cell Significance Index: -27.8400
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2675
Cell Significance Index: -27.8500
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.2756
Cell Significance Index: -32.5000
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.2858
Cell Significance Index: -29.2000
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.3331
Cell Significance Index: -38.1600
Cell Name: radial glial cell (CL0000681)
Fold Change: -0.3438
Cell Significance Index: -2.0400
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.3688
Cell Significance Index: -29.2100
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.3695
Cell Significance Index: -22.7100
Cell Name: glioblast (CL0000030)
Fold Change: -0.3726
Cell Significance Index: -2.3400
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.4055
Cell Significance Index: -10.8700
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.4144
Cell Significance Index: -5.9400
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.4323
Cell Significance Index: -29.0700
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.4396
Cell Significance Index: -22.9000
Cell Name: astrocyte (CL0000127)
Fold Change: -0.4474
Cell Significance Index: -5.1200
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.4693
Cell Significance Index: -22.0600
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.4735
Cell Significance Index: -12.4500
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.4747
Cell Significance Index: -29.9200
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.4872
Cell Significance Index: -31.4300
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.4907
Cell Significance Index: -17.0500
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.4975
Cell Significance Index: -14.2600
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: -0.5114
Cell Significance Index: -3.0900
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.5597
Cell Significance Index: -11.6100
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.6622
Cell Significance Index: -34.7700
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.7287
Cell Significance Index: -17.6500
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.7498
Cell Significance Index: -34.9600
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.8097
Cell Significance Index: -17.2500
Cell Name: neural progenitor cell (CL0011020)
Fold Change: -0.8242
Cell Significance Index: -8.1600
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.8544
Cell Significance Index: -29.9300
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.8656
Cell Significance Index: -9.4100
Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.9036
Cell Significance Index: -28.5800

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.

**Key Characteristics:** 1. **Zinc Finger Domain:** The GLI3 protein contains a zinc finger domain, which is a conserved motif that allows for the binding of specific DNA sequences. 2. **Transcriptional Activation:** GLI3 acts as a transcriptional activator, promoting the expression of target genes involved in developmental processes and immune function. 3. **Hedgehog Signaling Pathway:** GLI3 is a key component of the Hedgehog signaling pathway, which is involved in the regulation of embryonic development, organogenesis, and tissue patterning. 4. **Receptor-Independent Signaling:** GLI3 can also activate transcription in the absence of Hedgehog ligands, suggesting a receptor-independent mode of signaling. **Pathways and Functions:** 1. **Hedgehog Signaling Pathway:** GLI3 is a key component of the Hedgehog signaling pathway, which is involved in the regulation of embryonic development, organogenesis, and tissue patterning. 2. **Alpha-Beta T Cell Differentiation:** GLI3 negatively regulates alpha-beta T cell differentiation, suggesting a role in the regulation of immune cell development. 3. **Thymocyte Apoptosis:** GLI3 also negatively regulates thymocyte apoptosis, indicating a role in the regulation of immune cell survival. 4. **Chondrocyte Differentiation:** GLI3 promotes chondrocyte differentiation, suggesting a role in the regulation of cartilage development. 5. **Neuron Differentiation:** GLI3 also promotes neuron differentiation, indicating a role in the regulation of neural development. **Clinical Significance:** 1. **Cancer:** Mutations in the GLI3 gene have been associated with certain types of cancer, including prostate cancer and medulloblastoma. 2. **Immune Disorders:** Alterations in GLI3 expression have been linked to immune disorders, such as autoimmune diseases and immunodeficiencies. 3. **Neurological Disorders:** GLI3 has been implicated in the regulation of neural development and function, suggesting a role in the pathogenesis of neurological disorders, such as autism and schizophrenia. 4. **Developmental Disorders:** GLI3 has been linked to developmental disorders, such as limb abnormalities and craniofacial defects. In conclusion, the GLI3 gene is a critical regulator of developmental processes and immune function, and its dysregulation has been implicated in various diseases, including cancer, immune disorders, and neurological disorders. Further research is needed to fully understand the role of GLI3 in human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Transcriptional activator GLI3
A0A2R8YGX0_HUMAN

Genular Protein ID: 3411184940

Symbol: GLI3_HUMAN

Name: Transcriptional activator GLI3

UniProtKB Accession Codes:

P10071 A4D1W1 O75219 Q17RW4 Q75MT0 Q75MU9 Q9UDT5 Q9UJ39

Database IDs:

Citations:

PubMed ID: 2118997

Title: GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity.

PubMed ID: 2118997

DOI: 10.1128/mcb.10.10.5408-5415.1990

PubMed ID: 10441342

Title: Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome.

PubMed ID: 10441342

DOI: 10.1093/hmg/8.9.1769

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

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: 2850480

Title: The GLI-Kruppel family of human genes.

PubMed ID: 2850480

DOI: 10.1128/mcb.8.8.3104-3113.1988

PubMed ID: 10693759

Title: Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb.

PubMed ID: 10693759

DOI: 10.1016/s0092-8674(00)80678-9

PubMed ID: 11238441

Title: Physical and functional interactions between Zic and Gli proteins.

PubMed ID: 11238441

DOI: 10.1074/jbc.c000773200

PubMed ID: 16705181

Title: Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP.

PubMed ID: 16705181

DOI: 10.1128/mcb.02183-05

PubMed ID: 16371461

Title: Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing.

PubMed ID: 16371461

DOI: 10.1073/pnas.0509927103

PubMed ID: 18455992

Title: Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling.

PubMed ID: 18455992

DOI: 10.1016/j.cell.2008.02.047

PubMed ID: 17764085

Title: Characterization of the interactions of human ZIC3 mutants with GLI3.

PubMed ID: 17764085

DOI: 10.1002/humu.20606

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19592253

Title: The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.

PubMed ID: 19592253

DOI: 10.1016/j.cub.2009.06.046

PubMed ID: 19389374

Title: Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3.

PubMed ID: 19389374

DOI: 10.1016/j.ydbio.2009.01.012

PubMed ID: 19878745

Title: Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway.

PubMed ID: 19878745

DOI: 10.1016/j.yexcr.2009.10.018

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23955340

Title: Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention of transcription factor GLI3 and affecting ciliogenesis.

PubMed ID: 23955340

DOI: 10.1074/jbc.m113.492066

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 24311597

Title: Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation.

PubMed ID: 24311597

DOI: 10.1107/s0907444913028473

PubMed ID: 9302279

Title: Point mutations in human GLI3 cause Greig syndrome.

PubMed ID: 9302279

DOI: 10.1093/hmg/6.11.1979

PubMed ID: 10441570

Title: The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations.

PubMed ID: 10441570

DOI: 10.1086/302557

PubMed ID: 12414818

Title: De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.

PubMed ID: 12414818

DOI: 10.1136/jmg.39.11.804

PubMed ID: 12794692

Title: Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

PubMed ID: 12794692

DOI: 10.1002/ajmg.a.20018

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 28965847

Title: Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

PubMed ID: 28965847

DOI: 10.1016/j.ajhg.2017.08.017

PubMed ID: 29263200

Title: WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.

PubMed ID: 29263200

DOI: 10.15252/embr.201744632

Sequence Information:

Length: 1580
Mass: 169863
Checksum: 423B7495FCE3C37C
Sequence:

MEAQSHSSTT TEKKKVENSI VKCSTRTDVS EKAVASSTTS NEDESPGQTY HRERRNAITM 
QPQNVQGLSK VSEEPSTSSD ERASLIKKEI HGSLPHVAEP SVPYRGTVFA MDPRNGYMEP 
HYHPPHLFPA FHPPVPIDAR HHEGRYHYDP SPIPPLHMTS ALSSSPTYPD LPFIRISPHR 
NPTAASESPF SPPHPYINPY MDYIRSLHSS PSLSMISATR GLSPTDAPHA GVSPAEYYHQ 
MALLTGQRSP YADIIPSAAT AGTGAIHMEY LHAMDSTRFS SPRLSARPSR KRTLSISPLS 
DHSFDLQTMI RTSPNSLVTI LNNSRSSSSA SGSYGHLSAS AISPALSFTY SSAPVSLHMH 
QQILSRQQSL GSAFGHSPPL IHPAPTFPTQ RPIPGIPTVL NPVQVSSGPS ESSQNKPTSE 
SAVSSTGDPM HNKRSKIKPD EDLPSPGARG QQEQPEGTTL VKEEGDKDES KQEPEVIYET 
NCHWEGCARE FDTQEQLVHH INNDHIHGEK KEFVCRWLDC SREQKPFKAQ YMLVVHMRRH 
TGEKPHKCTF EGCTKAYSRL ENLKTHLRSH TGEKPYVCEH EGCNKAFSNA SDRAKHQNRT 
HSNEKPYVCK IPGCTKRYTD PSSLRKHVKT VHGPEAHVTK KQRGDIHPRP PPPRDSGSHS 
QSRSPGRPTQ GALGEQQDLS NTTSKREECL QVKTVKAEKP MTSQPSPGGQ SSCSSQQSPI 
SNYSNSGLEL PLTDGGSIGD LSAIDETPIM DSTISTATTA LALQARRNPA GTKWMEHVKL 
ERLKQVNGMF PRLNPILPPK APAVSPLIGN GTQSNNTCSL GGPMTLLPGR SDLSGVDVTM 
LNMLNRRDSS ASTISSAYLS SRRSSGISPC FSSRRSSEAS QAEGRPQNVS VADSYDPIST 
DASRRSSEAS QSDGLPSLLS LTPAQQYRLK AKYAAATGGP PPTPLPNMER MSLKTRLALL 
GDALEPGVAL PPVHAPRRCS DGGAHGYGRR HLQPHDAPGH GVRRASDPVR TGSEGLALPR 
VPRFSSLSSC NPPAMATSAE KRSLVLQNYT RPEGGQSRNF HSSPCPPSIT ENVTLESLTM 
DADANLNDED FLPDDVVQYL NSQNQAGYEQ HFPSALPDDS KVPHGPGDFD APGLPDSHAG 
QQFHALEQPC PEGSKTDLPI QWNEVSSGSA DLSSSKLKCG PRPAVPQTRA FGFCNGMVVH 
PQNPLRSGPA GGYQTLGENS NPYGGPEHLM LHNSPGSGTS GNAFHEQPCK APQYGNCLNR 
QPVAPGALDG ACGAGIQASK LKSTPMQGSG GQLNFGLPVA PNESAGSMVN GMQNQDPVGQ 
GYLAHQLLGD SMQHPGAGRP GQQMLGQISA TSHINIYQGP ESCLPGAHGM GSQPSSLAVV 
RGYQPCASFG GSRRQAMPRD SLALQSGQLS DTSQTCRVNG IKMEMKGQPH PLCSNLQNYS 
GQFYDQTVGF SQQDTKAGSF SISDASCLLQ GTSAKNSELL SPGANQVTST VDSLDSHDLE 
GVQIDFDAII DDGDHSSLMS GALSPSIIQN LSHSSSRLTT PRASLPFPAL SMSTTNMAIG 
DMSSLLTSLA EESKFLAVMQ

Genular Protein ID: 3498213119

Symbol: A0A2R8YGX0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8YGX0

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

Sequence Information:

Length: 1521
Mass: 163351
Checksum: EC027BE010E051C7
Sequence:

MQPQNVQGLS KVSEEPSTSS DERASLIKKE IHGSLPHVAE PSVPYRGTVF AMDPRNGYME 
PHYHPPHLFP AFHPPVPIDA RHHEGRYHYD PSPIPPLHMT SALSSSPTYP DLPFIRISPH 
RNPTAASESP FSPPHPYINP YMDYIRSLHS SPSLSMISAT RGLSPTDAPH AGVSPAEYYH 
QMALLTGQRS PYADIIPSAA TAGTGAIHME YLHAMDSTRF SSPRLSARPS RKRTLSISPL 
SDHSFDLQTM IRTSPNSLVT ILNNSRSSSS ASGSYGHLSA SAISPALSFT YSSAPVSLHM 
HQQILSRQQS LGSAFGHSPP LIHPAPTFPT QRPIPGIPTV LNPVQVSSGP SESSQNKPTS 
ESAVSSTGDP MHNKRSKIKP DEDLPSPGAR GQQEQPEGTT LVKEEGDKDE SKQEPEVIYE 
TNCHWEGCAR EFDTQEQLVH HINNDHIHGE KKEFVCRWLD CSREQKPFKA QYMLVVHMRR 
HTGEKPHKCT FEGCTKAYSR LENLKTHLRS HTGEKPYVCE HEGCNKAFSN ASDRAKHQNR 
THSNEKPYVC KIPGCTKRYT DPSSLRKHVK TVHGPEAHVT KKQRGDIHPR PPPPRDSGSH 
SQSRSPGRPT QGALGEQQDL SNTTSKREEC LQVKTVKAEK PMTSQPSPGG QSSCSSQQSP 
ISNYSNSGLE LPLTDGGSIG DLSAIDETPI MDSTISTATT ALALQARRNP AGTKWMEHVK 
LERLKQVNGM FPRLNPILPP KAPAVSPLIG NGTQSNNTCS LGGPMTLLPG RSDLSGVDVT 
MLNMLNRRDS SASTISSAYL SSRRSSGISP CFSSRRSSEA SQAEGRPQNV SVADSYDPIS 
TDASRRSSEA SQSDGLPSLL SLTPAQQYRL KAKYAAATGG PPPTPLPNME RMSLKTRLAL 
LGDALEPGVA LPPVHAPRRC SDGGAHGYGR RHLQPHDAPG HGVRRASDPV RTGSEGLALP 
RVPRFSSLSS CNPPAMATSA EKRSLVLQNY TRPEGGQSRN FHSSPCPPSI TENVTLESLT 
MDADANLNDE DFLPDDVVQY LNSQNQAGYE QHFPSALPDD SKVPHGPGDF DAPGLPDSHA 
GQQFHALEQP CPEGSKTDLP IQWNEVSSGS ADLSSSKLKC GPRPAVPQTR AFGFCNGMVV 
HPQNPLRSGP AGGYQTLGEN SNPYGGPEHL MLHNSPGSGT SGNAFHEQPC KAPQYGNCLN 
RQPVAPGALD GACGAGIQAS KLKSTPMQGS GGQLNFGLPV APNESAGSMV NGMQNQDPVG 
QGYLAHQLLG DSMQHPGAGR PGQQMLGQIS ATSHINIYQG PESCLPGAHG MGSQPSSLAV 
VRGYQPCASF GGSRRQAMPR DSLALQSGQL SDTSQTCRVN GIKMEMKGQP HPLCSNLQNY 
SGQFYDQTVG FSQQDTKAGS FSISDASCLL QGTSAKNSEL LSPGANQVTS TVDSLDSHDL 
EGVQIDFDAI IDDGDHSSLM SGALSPSIIQ NLSHSSSRLT TPRASLPFPA LSMSTTNMAI 
GDMSSLLTSL AEESKFLAVM Q

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.

Details for: GLI3

Associated with

Cells (max top 100)

Other Information

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. PubMed ID: 2118997

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome. PubMed ID: 10441342

The DNA sequence of human chromosome 7. PubMed ID: 12853948

Human chromosome 7: DNA sequence and biology. PubMed ID: 12690205

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The GLI-Kruppel family of human genes. PubMed ID: 2850480

Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb. PubMed ID: 10693759

Physical and functional interactions between Zic and Gli proteins. PubMed ID: 11238441

Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. PubMed ID: 16705181

Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing. PubMed ID: 16371461

Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling. PubMed ID: 18455992

Characterization of the interactions of human ZIC3 mutants with GLI3. PubMed ID: 17764085

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. PubMed ID: 19592253

Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. PubMed ID: 19389374

Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway. PubMed ID: 19878745

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. PubMed ID: 21406692

Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention of transcription factor GLI3 and affecting ciliogenesis. PubMed ID: 23955340

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. PubMed ID: 28112733

Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation. PubMed ID: 24311597

Point mutations in human GLI3 cause Greig syndrome. PubMed ID: 9302279

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. PubMed ID: 10441570

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. PubMed ID: 12414818

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. PubMed ID: 12794692

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. PubMed ID: 28965847

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. PubMed ID: 29263200

Initial sequencing and analysis of the human genome. PubMed ID: 11237011

The DNA sequence of human chromosome 7. PubMed ID: 12853948

Finishing the euchromatic sequence of the human genome. PubMed ID: 15496913

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. PubMed ID: 21406692

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. PubMed ID: 28112733

Database document:

PubMed ID: 2118997

PubMed ID: 10441342

PubMed ID: 12853948

PubMed ID: 12690205

PubMed ID: 15489334

PubMed ID: 2850480

PubMed ID: 10693759

PubMed ID: 11238441

PubMed ID: 16705181

PubMed ID: 16371461

PubMed ID: 18455992

PubMed ID: 17764085

PubMed ID: 19413330

PubMed ID: 19592253

PubMed ID: 19389374

PubMed ID: 19878745

PubMed ID: 21406692

PubMed ID: 23955340

PubMed ID: 23186163

PubMed ID: 28112733

PubMed ID: 24311597

PubMed ID: 9302279

PubMed ID: 10441570

PubMed ID: 12414818

PubMed ID: 12794692

PubMed ID: 16959974

PubMed ID: 28965847

PubMed ID: 29263200

PubMed ID: 11237011

PubMed ID: 12853948

PubMed ID: 15496913

PubMed ID: 21406692

PubMed ID: 23186163

PubMed ID: 28112733