GLIS1 (GLIS family zinc finger 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
148979
Gene name Gene Name - the full gene name approved by the HGNC.
GLIS family zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLIS1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez Gene.
GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610378 29525 ENSG00000174332
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NBF1
Protein name Zinc finger protein GLIS1 (GLI-similar 1)
Protein function Acts both as a repressor and an activator of transcription (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). By controlling the expression of genes involved in cell differentiation inhibits the lineage commitme
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 263 → 286 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 292 → 316 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 322 → 346 Zinc finger, C2H2 type Domain
Sequence 
MAEARTSLSAHCRGPLATGLHPDLDLPGRSLATPAPSCYLLGSEPSSGLGLQPETHLPEG
SLKRCCVLGLPPTSPASSSPCASSDVTSIIRSSQTSLVTCVNGLRSPPLTGDLGGPSKRA
RPGPASTDSHEGSLQLEACRKASFLKQEPADEFSELFGPHQQGLPPPYPLSQLPPGPSLG
GLGLGLAGRVVAGRQACRWVDCCAAYEQQEELVRHIEKSHIDQRKGEDFTCFWAGCVRRY
KPFNARYKLLIHMRVHSGEKPNKCMFEGCSKAFSRLENLKIHLRSHTGEKPYLCQHPGCQ
KAFSNSSDRAKHQRTHLDTKPYACQIPGCSKRYTDPSSLRKHVKAHSAKEQQVRKKLHAG
PDTEADVLTECLVLQQLHTSTQLAASDGKGGCGLGQELLPGVYPGSITPHNGLASGLLPP
AHDVPSRHHPLDATTSSHHHLSPLPMAESTRDGLGPGLLSPIVSPLKGLGPPPLPPSSQS
HSPGGQPFPTLPSKPSYPPFQSPPPPPLPSPQGYQGSFHSIQSCFPYGDCYRMAEPAAGG
DGLVGETHGFNPLRPNGYHSLSTPLPATGYEALAEASCPTALPQQPSEDVVSSGPEDCGF
FPNGAFDHCLGHIPSIYTDT
Sequence length 620
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Mitral valve prolapse Mitral Valve Prolapse Syndrome rs768737101 26301497
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 30648929, 31273314
Alzheimer Disease Associate 28247064
Autism Spectrum Disorder Associate 26398136
Carcinoma Hepatocellular Associate 35865652
Coronary Artery Disease Associate 23233742
Encephalomyelitis Equine Associate 30404192
Fibrosis Inhibit 37852548
Mitochondrial Diseases Associate 37852548
Neoplasm Metastasis Associate 35216340
Neoplasms Associate 30239619, 35216340, 38203661