Seroatlas · Human Serome Atlas

GLI1

Zinc finger protein GLI1

Also known as: GLI, GLI1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P08151
Gene: GLI1
Ensembl: ENSG00000111087
Chromosome: 12
Canonical length: 1106 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Plasma membrane,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Canonical amino-acid sequenceUniProt

1106 residues, UniProt reviewed canonical sequence.

>P08151|GLI1
     1  MFNSMTPPPI SSYGEPCCLR PLPSQGAPSV GTEGLSGPPF CHQANLMSGP HSYGPARETN
    61  SCTEGPLFSS PRSAVKLTKK RALSISPLSD ASLDLQTVIR TSPSSLVAFI NSRCTSPGGS
   121  YGHLSIGTMS PSLGFPAQMN HQKGPSPSFG VQPCGPHDSA RGGMIPHPQS RGPFPTCQLK
   181  SELDMLVGKC REEPLEGDMS SPNSTGIQDP LLGMLDGRED LEREEKREPE SVYETDCRWD
   241  GCSQEFDSQE QLVHHINSEH IHGERKEFVC HWGGCSRELR PFKAQYMLVV HMRRHTGEKP
   301  HKCTFEGCRK SYSRLENLKT HLRSHTGEKP YMCEHEGCSK AFSNASDRAK HQNRTHSNEK
   361  PYVCKLPGCT KRYTDPSSLR KHVKTVHGPD AHVTKRHRGD GPLPRAPSIS TVEPKREREG
   421  GPIREESRLT VPEGAMKPQP SPGAQSSCSS DHSPAGSAAN TDSGVEMTGN AGGSTEDLSS
   481  LDEGPCIAGT GLSTLRRLEN LRLDQLHQLR PIGTRGLKLP SLSHTGTTVS RRVGPPVSLE
   541  RRSSSSSSIS SAYTVSRRSS LASPFPPGSP PENGASSLPG LMPAQHYLLR ARYASARGGG
   601  TSPTAASSLD RIGGLPMPPW RSRAEYPGYN PNAGVTRRAS DPAQAADRPA PARVQRFKSL
   661  GCVHTPPTVA GGGQNFDPYL PTSVYSPQPP SITENAAMDA RGLQEEPEVG TSMVGSGLNP
   721  YMDFPPTDTL GYGGPEGAAA EPYGARGPGS LPLGPGPPTN YGPNPCPQQA SYPDPTQETW
   781  GEFPSHSGLY PGPKALGGTY SQCPRLEHYG QVQVKPEQGC PVGSDSTGLA PCLNAHPSEG
   841  PPHPQPLFSH YPQPSPPQYL QSGPYTQPPP DYLPSEPRPC LDFDSPTHST GQLKAQLVCN
   901  YVQSQQELLW EGGGREDAPA QEPSYQSPKF LGGSQVSPSR AKAPVNTYGP GFGPNLPNHK
   961  SGSYPTPSPC HENFVVGANR ASHRAAAPPR LLPPLPTCYG PLKVGGTNPS CGHPEVGRLG
  1021  GGPALYPPPE GQVCNPLDSL DLDNTQLDFV AILDEPQGLS PPPSHDQRGS SGHTPPPSGP
  1081  PNMAVGNMSV LLRSLPGETE FLNSSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.66
Highest tissue expression: 10 nTPM

Expression across tissuesHPA

Tissue

cervix: 10 nTPM
endometrium: 8.8 nTPM
epididymis: 6.3 nTPM
gallbladder: 5.1 nTPM
testis: 5.1 nTPM
prostate: 4.3 nTPM

Single-cell type

peritubular myoid cells: 54 nCPM
leydig cells: 51 nCPM
bergmann glia: 38 nCPM
tuft cells: 12 nCPM
decidual stromal cells: 9.5 nCPM
fibroblasts: 7.6 nCPM

Immune cell

neutrophil: 1.9 nTPM
basophil: 0.8 nTPM
eosinophil: 0.3 nTPM
memory B-cell: 0.3 nTPM
naive B-cell: 0.2 nTPM
T-reg: 0.2 nTPM

Brain region

thalamus: 8.5 nTPM
cerebellum: 7.1 nTPM
midbrain: 4.8 nTPM
hypothalamus: 4.6 nTPM
medulla oblongata: 3.8 nTPM
spinal cord: 3.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLI1.

Disease | AllUniProt

Conditions GLI1 is implicated in, by any mechanism.

Polydactyly, postaxial, A8 (PAPA8) MIM:618123
Polydactyly, preaxial 1 (PPD1) MIM:174400

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 224 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Polydactyly, postaxial, type A8
GLI1-related disorder
Autosomal recessive GLI1-related disorders
Polydactyly of a biphalangeal thumb

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.92
gnomAD pLI: 0
gnomAD missense Z: 1.08
DepMap mean gene effect: -0.28
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GLI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GLI1 as an antibody target. Whether an autoantibody or antibody against GLI1 could matter depends on whether native GLI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GLI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GLI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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