Entity Details

Primary name GLI3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP10071
EntryNameGLI3_HUMAN
FullNameTranscriptional activator GLI3
TaxID9606
Evidenceevidence at protein level
Length1580
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesGLI3

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001701 in utero embryonic development
GO:0002052 positive regulation of neuroblast proliferation
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005929 cilium
GO:0005930 axoneme
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007224 smoothened signaling pathway
GO:0007411 axon guidance
GO:0007442 hindgut morphogenesis
GO:0007507 heart development
GO:0008013 beta-catenin binding
GO:0008285 negative regulation of cell population proliferation
GO:0009952 anterior/posterior pattern specification
GO:0009954 proximal/distal pattern formation
GO:0016485 protein processing
GO:0016607 nuclear speck
GO:0017053 transcription repressor complex
GO:0021631 optic nerve morphogenesis
GO:0021766 hippocampus development
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021819 layer formation in cerebral cortex
GO:0021861 forebrain radial glial cell differentiation
GO:0022018 lateral ganglionic eminence cell proliferation
GO:0030318 melanocyte differentiation
GO:0030324 lung development
GO:0030850 prostate gland development
GO:0032332 positive regulation of chondrocyte differentiation
GO:0033077 T cell differentiation in thymus
GO:0035035 histone acetyltransferase binding
GO:0035108 limb morphogenesis
GO:0036033 mediator complex binding
GO:0042060 wound healing
GO:0042307 positive regulation of protein import into nucleus
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0042826 histone deacetylase binding
GO:0043066 negative regulation of apoptotic process
GO:0043231 intracellular membrane-bounded organelle
GO:0043585 nose morphogenesis
GO:0043586 tongue development
GO:0043627 response to estrogen
GO:0045060 negative thymic T cell selection
GO:0045665 negative regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0046639 negative regulation of alpha-beta T cell differentiation
GO:0046872 metal ion binding
GO:0048557 embryonic digestive tract morphogenesis
GO:0048566 embryonic digestive tract development
GO:0048589 developmental growth
GO:0048593 camera-type eye morphogenesis
GO:0048702 embryonic neurocranium morphogenesis
GO:0048709 oligodendrocyte differentiation
GO:0060021 roof of mouth development
GO:0060364 frontal suture morphogenesis
GO:0060366 lambdoid suture morphogenesis
GO:0060367 sagittal suture morphogenesis
GO:0060594 mammary gland specification
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0060840 artery development
GO:0060873 anterior semicircular canal development
GO:0060875 lateral semicircular canal development
GO:0061005 cell differentiation involved in kidney development
GO:0070242 thymocyte apoptotic process
GO:0071625 vocalization behavior
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0097421 liver regeneration
GO:0097542 ciliary tip
GO:0097546 ciliary base
GO:0120223 larynx morphogenesis
GO:1901620 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:1903010 regulation of bone development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR032851 Transcription factor GLI3FamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily
IPR043359 C2H2-type zinc-finger protein GLI-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
175700 OMIMGreig cephalo-poly-syndactyly syndrome (GCPS)Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. The disease is caused by variants affecting the gene represented in this entry.
146510 OMIMPallister-Hall syndrome (PHS)An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. The disease is caused by variants affecting the gene represented in this entry.
174200 OMIMPolydactyly, postaxial A1 (PAPA1)A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. The disease is caused by variants affecting the gene represented in this entry.
174200 OMIMPolydactyly, postaxial A1 (PAPA1)A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. The disease is caused by variants affecting the gene represented in this entry.
174700 OMIMPolydactyly, preaxial 4 (PPD4)A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement. The disease is caused by variants affecting the gene represented in this entry.