Gene Gene information from NCBI Gene database.
Entrez ID 84232
Gene name MAF1 negative regulator of RNA polymerase III
Gene symbol MAF1
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q24.3
Summary This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and repress
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT041940 hsa-miR-484 CLASH 23622248
MIRT439156 hsa-let-7c-5p 3'LIFE 25074381
MIRT439156 hsa-let-7c-5p 3'LIFE 25074381
MIRT1125193 hsa-miR-103a CLIP-seq
MIRT1125194 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000994 Function RNA polymerase III core binding IBA
GO:0001002 Function RNA polymerase III type 1 promoter sequence-specific DNA binding IDA 20233713
GO:0001003 Function RNA polymerase III type 2 promoter sequence-specific DNA binding IDA 20233713
GO:0001006 Function RNA polymerase III type 3 promoter sequence-specific DNA binding IDA 20233713
GO:0005515 Function Protein binding IPI 18377933, 19060904, 21383183, 26030842, 28514442, 32814053, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610210 24966 ENSG00000179632
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H063
Protein name Repressor of RNA polymerase III transcription MAF1 homolog
Protein function Plays a role in the repression of RNA polymerase III-mediated transcription in response to changing nutritional, environmental and cellular stress conditions to balance the production of highly abundant tRNAs, 5S rRNA, and other small non-coding
PDB 3NR5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09174 Maf1 25 202 Maf1 regulator Family
Sequence
Sequence length 256
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of PTEN gene transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 37801436 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30628658
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30628658, 37801436 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 17499043
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 17499043 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 17499043
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31645432
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 29108454 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 30628658 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26173035, 29407795, 31645432
★☆☆☆☆
Found in Text Mining only