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Aliases for MAF1 Gene

Aliases for MAF1 Gene

  • MAF1 Homolog, Negative Regulator Of RNA Polymerase III 2 3 5
  • MAF1 Homolog (S. Cerevisiae) 2

External Ids for MAF1 Gene

Previous GeneCards Identifiers for MAF1 Gene

  • GC00U990992
  • GC08M145276
  • GC08P144934
  • GC08P145265
  • GC08P145231
  • GC08P145160
  • GC08P140435
  • GC08P145161

Summaries for MAF1 Gene

Entrez Gene Summary for MAF1 Gene

  • 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 represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAF1 Gene

MAF1 (MAF1 Homolog, Negative Regulator Of RNA Polymerase III) is a Protein Coding gene. Among its related pathways are mTOR signaling pathway (KEGG). GO annotations related to this gene include RNA polymerase III type 1 promoter DNA binding and RNA polymerase III type 3 promoter DNA binding.

UniProtKB/Swiss-Prot for MAF1 Gene

  • Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA.

Gene Wiki entry for MAF1 Gene

Additional gene information for MAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAF1 Gene

Genomics for MAF1 Gene

Regulatory Elements for MAF1 Gene

Enhancers for MAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H143531 2.3 VISTA ENCODE dbSUPER 16 -572.5 -572533 1.1 ELF3 HDGF RB1 ARID4B RAD21 RFX5 SLC30A9 EGR1 ZNF143 RCOR1 ENSG00000254859 MAF1 NAPRT MAFA-AS1 ENSG00000253931 PLEC ZC3H3 GC08P143571 GC08P143506
GH08H144077 1.4 ENCODE dbSUPER 22.1 -25.6 -25635 3.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF623 ZNF7 WDR97 ZNF16 EEF1D MAF1 ENSG00000255224 GPAA1 CPSF1 ZNF251
GH08H143914 2.2 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -167.3 -167272 45.2 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 MEF2D ZNF610 GLIS1 RCOR2 PLEC ZNF251 ZNF517 ZNF250 ZNF7 LOC105375803 EEF1D ZNF623 CPSF1 VPS28
GH08H144425 1.7 FANTOM5 ENCODE dbSUPER 16 +324.5 324537 6.8 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 VPS28 ZNF517 SLC39A4 CPSF1 ZNF7 TONSL MAF1 ZNF623 ZNF250 ZNF251
GH08H145051 1.1 ENCODE 24.5 +948.1 948054 2.4 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 MAF1 C8orf33 ZNF252P SLC39A4 RPL8 PIR53567 GC08P145056
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAF1 on UCSC Golden Path with GeneCards custom track

Promoters for MAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232206 -202 2401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766

Genomic Locations for MAF1 Gene

Genomic Locations for MAF1 Gene
chr8:144,104,402-144,107,612
(GRCh38/hg38)
Size:
3,211 bases
Orientation:
Plus strand
chr8:145,159,305-145,162,515
(GRCh37/hg19)

Genomic View for MAF1 Gene

Genes around MAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAF1 Gene

Proteins for MAF1 Gene

  • Protein details for MAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H063-MAF1_HUMAN
    Recommended name:
    Repressor of RNA polymerase III transcription MAF1 homolog
    Protein Accession:
    Q9H063
    Secondary Accessions:
    • D3DWL4

    Protein attributes for MAF1 Gene

    Size:
    256 amino acids
    Molecular mass:
    28771 Da
    Quaternary structure:
    • Interacts with BRF2.

    Three dimensional structures from OCA and Proteopedia for MAF1 Gene

neXtProt entry for MAF1 Gene

Post-translational modifications for MAF1 Gene

  • Phosphorylated at Ser-60, Ser-68 and Ser-75; the major sites of phosphorylation. Nuclear accumulation correlates with a concomitant dephosphorylation. Phosphorylation may attenuate its RNA polymerase III-repressive function.
  • Sumoylated with SUMO1 and SUMO2, mainly on Lys-35. Desumoylated by SENP1. SUMOylation promotes the ability of MAF1 to repress transcription and suppress colony formation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAF1 Gene

Domains & Families for MAF1 Gene

Gene Families for MAF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H063

UniProtKB/Swiss-Prot:

MAF1_HUMAN :
  • Belongs to the MAF1 family.
Family:
  • Belongs to the MAF1 family.
genes like me logo Genes that share domains with MAF1: view

Function for MAF1 Gene

Molecular function for MAF1 Gene

UniProtKB/Swiss-Prot Function:
Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA.

Phenotypes From GWAS Catalog for MAF1 Gene

Gene Ontology (GO) - Molecular Function for MAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000994 RNA polymerase III core binding IBA --
GO:0001030 RNA polymerase III type 1 promoter DNA binding IDA 20233713
GO:0001031 RNA polymerase III type 2 promoter DNA binding IDA 20233713
GO:0001032 RNA polymerase III type 3 promoter DNA binding IDA 20233713
GO:0050811 GABA receptor binding IEA --
genes like me logo Genes that share ontologies with MAF1: view
genes like me logo Genes that share phenotypes with MAF1: view

Animal Models for MAF1 Gene

MGI Knock Outs for MAF1:

Animal Model Products

miRNA for MAF1 Gene

miRTarBase miRNAs that target MAF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAF1 Gene

Localization for MAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAF1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAF1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
cytoskeleton 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA 20233713
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 20233713
genes like me logo Genes that share ontologies with MAF1: view

Pathways & Interactions for MAF1 Gene

SuperPathway Contained pathways
1 mTOR signaling pathway (KEGG)
genes like me logo Genes that share pathways with MAF1: view

Pathways by source for MAF1 Gene

1 R&D Systems pathway for MAF1 Gene

SIGNOR curated interactions for MAF1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016480 negative regulation of transcription from RNA polymerase III promoter IDA,IEA 20233713
genes like me logo Genes that share ontologies with MAF1: view

Drugs & Compounds for MAF1 Gene

No Compound Related Data Available

Transcripts for MAF1 Gene

Unigene Clusters for MAF1 Gene

MAF1 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: -
SP3: - - -
SP4:
SP5:

Relevant External Links for MAF1 Gene

GeneLoc Exon Structure for
MAF1
ECgene alternative splicing isoforms for
MAF1

Expression for MAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAF1 Gene

This gene is overexpressed in Adrenal (37.7), Peripheral blood mononuclear cells (7.5), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAF1 Gene



Protein tissue co-expression partners for MAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAF1 Gene:

MAF1

SOURCE GeneReport for Unigene cluster for MAF1 Gene:

Hs.19673

Evidence on tissue expression from TISSUES for MAF1 Gene

  • Nervous system(4.6)
  • Lung(4.5)
  • Liver(4.3)
  • Muscle(2.9)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with MAF1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAF1 Gene

Orthologs for MAF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAF1 33 34
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia MAF1 33 34
  • 90.94 (n)
oppossum
(Monodelphis domestica)
Mammalia MAF1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAF1 33
  • 89.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAF1 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maf1 33 16 34
  • 87.24 (n)
rat
(Rattus norvegicus)
Mammalia Maf1 33
  • 87.11 (n)
chicken
(Gallus gallus)
Aves MAF1 33 34
  • 85.28 (n)
lizard
(Anolis carolinensis)
Reptilia MAF1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20177 33
African clawed frog
(Xenopus laevis)
Amphibia maf1-pending-prov 33
zebrafish
(Danio rerio)
Actinopterygii maf1 33
  • 70.63 (n)
MAF1 34
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5208 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008411 33
  • 64.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta Maf1 33 34
  • 55.23 (n)
worm
(Caenorhabditis elegans)
Secernentea C43H8.2 33
  • 45.6 (n)
mafr-1 34
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAF1 34 36
  • 17 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G13240 33
  • 48.31 (n)
rice
(Oryza sativa)
Liliopsida Os04g0662900 33
  • 49.38 (n)
corn
(Zea mays)
Liliopsida Zm.17804 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3101 34
  • 54 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04597 33
  • 51.44 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes maf1 33
  • 45.24 (n)
Species where no ortholog for MAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAF1 Gene

ENSEMBL:
Gene Tree for MAF1 (if available)
TreeFam:
Gene Tree for MAF1 (if available)

Paralogs for MAF1 Gene

Pseudogenes.org Pseudogenes for MAF1 Gene

genes like me logo Genes that share paralogs with MAF1: view

No data available for Paralogs for MAF1 Gene

Variants for MAF1 Gene

Sequence variations from dbSNP and Humsavar for MAF1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000048438 -- 144,104,070(+) GCACC(G/T)GCCAC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000142958 -- 144,104,206(+) CTTCG(C/T)CCGCA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000481167 -- 144,107,419(+) TATTT(C/G)TACTG upstream-variant-2KB, utr-variant-3-prime
rs1001144884 -- 144,103,415(+) CCCCA(C/T)TTCAC intron-variant, upstream-variant-2KB
rs1001681091 -- 144,102,563(+) CCACC(C/G)CACCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MAF1 Gene

Variant ID Type Subtype PubMed ID
nsv950015 CNV deletion 24416366
nsv824802 CNV gain 20364138
nsv6448 CNV insertion 18451855
nsv612915 CNV loss 21841781
nsv612914 CNV loss 21841781
nsv515809 CNV gain+loss 19592680
nsv470249 CNV loss 18288195
nsv466014 CNV loss 19166990
nsv428208 CNV gain 18775914
nsv1025071 CNV gain 25217958
esv29971 CNV loss 17803354
esv2759651 CNV gain 17122850
dgv906n27 CNV loss 19166990
dgv12433n54 CNV gain 21841781
dgv12431n54 CNV loss 21841781

Variation tolerance for MAF1 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAF1 Gene

Disorders for MAF1 Gene

Relevant External Links for MAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAF1

No disorders were found for MAF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAF1 Gene

Publications for MAF1 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 60
  2. Covalent small ubiquitin-like modifier (SUMO) modification of Maf1 protein controls RNA polymerase III-dependent transcription repression. (PMID: 23673667) Rohira AD … Johnson DL (The Journal of biological chemistry 2013) 3 4 60
  3. Requirement of the mTOR kinase for the regulation of Maf1 phosphorylation and control of RNA polymerase III-dependent transcription in cancer cells. (PMID: 20233713) Shor B … Yu K (The Journal of biological chemistry 2010) 3 4 60
  4. mTOR associates with TFIIIC, is found at tRNA and 5S rRNA genes, and targets their repressor Maf1. (PMID: 20543138) Kantidakis T … White RJ (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 60
  5. Human Maf1 negatively regulates RNA polymerase III transcription via the TFIIB family members Brf1 and Brf2. (PMID: 17505538) Rollins J … Schramm L (International journal of biological sciences 2007) 3 4 60

Products for MAF1 Gene

Sources for MAF1 Gene

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