GLI1 - GLI family zinc finger 1 Gene
Also Known as GLI; PPD1; PAPA8
Species: Homo sapiens
About GLI1
This gene has 8 transcripts (splice variants), 201 orthologues, 14 paralogues and is associated with 98 phenotypes. Broad expression in endometrium (RPKM 5.6), testis (RPKM 2.9) and 15 other tissues.
Summary
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]
GLI1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001160045.2 | NP_001153517.1 | zinc finger protein GLI1 isoform 2 |
| NM_005269.3 | NP_005260.1 | zinc finger protein GLI1 isoform 1 |
| XM_011538190.3 | XP_011536492.1 | zinc finger protein GLI1 isoform X2 |
| XM_011538189.3 | XP_011536491.1 | zinc finger protein GLI1 isoform X1 |
| NM_001167609.2 | NP_001161081.1 | zinc finger protein GLI1 isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
9118802 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
18298960 | GOA |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
19706761 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10564661 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
19706761 | GOA |
| enables transcription cis-regulatory region binding |
IDA
IDA: Inferred from direct assay
|
17035233 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of GLI-SUFU complex |
IPI
IPI: Inferred from physical interaction
|
24311597 | GOA |
| is active in cytoplasm |
IDA
IDA: Inferred from direct assay
|
24076122 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10504446 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
18559511 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10806483 | GOA |
GLI1 Protein Structure
zf-H2C2_2: Zinc-finger double domain (288 - 313)
zf-H2C2_2: Zinc-finger double domain (317 - 344)
zf-C2H2: Zinc finger, C2H2 type (362 - 387)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1106 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
zinc finger protein GLI1 |
|
|
GLI1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GLI1 | P08151 | PRKAA2 | Homo sapiens | P54646 | 25416956 | |
|
Intra
|
GLI1 | P08151 | ITCH | Homo sapiens | Q96J02 | 20818436 | |
|
Intra
|
GLI1 | P08151 | RPS6KB1 | Homo sapiens | P23443 | 22439934 | |
|
Intra
|
GLI1 | P08151 | VHL | Homo sapiens | P40337-3 | 23395608 | |
|
Cross
|
GLI1 | P08151 | Zic1 | Mus musculus | P46684 | 11238441 | |
|
Cross
|
GLI1 | P08151 | Zic1 | Mus musculus | P46684 | 11238441 | |
|
Intra
|
GLI1 | P08151 | VHL | Homo sapiens | P40337-1 | 23395608 | |
|
Cross
|
GLI1 | P08151 | Numb | Mus musculus | Q9QZS3-2 | 20818436 | |
|
Cross
|
GLI1 | P08151 | Numb | Mus musculus | Q9QZS3-2 | 20818436 | |
|
Intra
|
GLI1 | P08151 | TRIM42 | Homo sapiens | Q8IWZ5 | 25416956 | |
|
Intra
|
GLI1 | P08151 | TRIM42 | Homo sapiens | Q8IWZ5 | 25416956 | |
|
Intra
|
GLI1 | P08151 | PIN1 | Homo sapiens | Q13526 | 32296183 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 20211142 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24311597 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 32296183 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24311597 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 25609649 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24311597 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24311597 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 25241761 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 22439934 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24217340 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1 | 24311597 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1-1 | 10564661 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1-2 | 10564661 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1-2 | 10564661 | |
|
Intra
|
GLI1 | P08151 | SUFU | Homo sapiens | Q9UMX1-2 | 10564661 | |
|
Intra
|
GLI1 | P08151 | CATSPER1 | Homo sapiens | Q8NEC5 | 32296183 | |
|
Intra
|
GLI1 | P08151 | AQP1 | Homo sapiens | P29972 | 32296183 | |
|
Intra
|
GLI1 | P08151 | AQP1 | Homo sapiens | P29972 | 32296183 | |
|
Intra
|
GLI1 | P08151 | GCC1 | Homo sapiens | Q96CN9 | 25416956 | |
|
Intra
|
GLI1 | P08151 | GCC1 | Homo sapiens | Q96CN9 | 25416956 | |
|
Intra
|
GLI1 | P08151 | GCC1 | Homo sapiens | Q96CN9 | 25416956 |
GLI1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83731 | Gli1 Antibody | WB, IHC-P, IHC-F, ICC/IF, FC | Human, Mouse, Rat |
| HY-P84001 | Gli1 Antibody (YA3698) | IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84001A | Gli1 Antibody (YA3698)(PBS only) | IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Skin Carcinoma |
|
|
| Cerebellar Medulloblastoma |
|
|
| Ameloblastoma |
|
|
| Sarcoma |
|
|
| Basosquamous Carcinoma |
|
|
| Glioma |
|
|
| Rhabdomyosarcoma |
|
|
| Cerebellum Cancer |
|
|
| Fibroepithelial Basal Cell Carcinoma |
|
|
| Bardet-Biedl Syndrome |
|
|
| Polydactyly, Postaxial, Type A8 |
|
|
| Acrocapitofemoral Dysplasia |
|
|
| Myelofibrosis |
|
|
| Greig Cephalopolysyndactyly Syndrome |
|
|
| Polycystic Kidney Disease |
|
|
| Penis Carcinoma In Situ |
|
|
| Pallister-Hall Syndrome |
|
|
| Polydactyly |
|
|
| Colorectal Cancer |
|
|
| Leukemia, Acute Myeloid |
|
|
| Basal Cell Carcinoma |
|
|
| Gastric Cancer |
|
|
| Cleft Palate, Isolated |
|
|
| Craniosynostosis |
|
|
| Polydactyly, Preaxial I |
|
|
| Chondroma |
|
|
| Nervous System Disease |
|
|
| Medulloblastoma |
|
|
| Granuloma Annulare |
|
|
| Prostate Cancer |
|
|
| Brain Cancer |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Congenital Nervous System Abnormality |
|
|
| Meningioma, Familial |
|
|
| Brachydactyly, Type A1 |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Infratentorial Cancer |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Joubert Syndrome 1 |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Childhood Medulloblastoma |
|
|
| Muscle Cancer |
|
|
| Polydactyly, Postaxial, Type A1 |
|
|
| Pericytoma With T(7;12) |
|
|
| Focal Dermal Hypoplasia |
|
|
| Anus, Imperforate |
|
|
| Ellis-Van Creveld Syndrome |
|
|
| Skeletal Muscle Cancer |
|
|
| Necrobiosis Lipoidica |
|
|
| Apert Syndrome |
|
|
| Pancreatic Cancer |
|
|
| Brachydactyly |
|
|
| Burkitt Lymphoma |
|
|
| Glioblastoma |
|
|
| Nodular Medulloblastoma |
|
|
| Nephronophthisis |
|
|
| Retinitis Pigmentosa |
|
|
| Orofacial Cleft |
|
|
| Holoprosencephaly |
|
|
| Acrocallosal Syndrome |
|
|
| Vacterl Association |
|
|
| Joubert Syndrome 32 |
|
|
| Trachea Leiomyoma |
|
|
| Skin Benign Neoplasm |
|
|
| Skin Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | GLI1 | VGNC | VGNC:41256 |
| Felis catus | GLI1 | VGNC | VGNC:62578 |
| Macaca mulatta | GLI1 | VGNC | VGNC:73069 |
| Rattus norvegicus | GLI1 | RGD | RGD:621673 |
| Bos taurus | GLI1 | VGNC | VGNC:29399 |
| Mus musculus | GLI1 | MGD | MGI:95727 |
| Others | GLI1 | NCBI |