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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAF1 Gene

protein-coding   GIFtS: 50
GCID: GC08P145161

MAF1 Homolog (S. Cerevisiae)

  Search for MAF1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MAF1 Homolog (S. Cerevisiae)1 2
Homolog Of Yeast MAF12
Repressor Of RNA Polymerase III Transcription MAF1 Homolog2

External Ids:    HGNC: 249661   Entrez Gene: 842322   Ensembl: ENSG000001796327   OMIM: 6102105   UniProtKB: Q9H0633   

Export aliases for MAF1 gene to outside databases

Previous GC identifers: GC00U990992 GC08M145276 GC08P144934 GC08P145265 GC08P145231 GC08P145160 GC08P140435


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (S. cerevisiae)) is a protein-coding gene. 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: MAF1_HUMAN, Q9H063
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

Gene Wiki entry for MAF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAF1 gene promoter:
         NF-1/L   STAT1   Elk-1   COUP   STAT1beta   YY1   STAT1alpha   c-Ets-1   Max   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

MAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAF1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P145161:  view genomic region     (about GC identifiers)

Start:
145,159,305 bp from pter      End:
145,162,515 bp from pter
Size:
3,211 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAF1_HUMAN, Q9H063 (See protein sequence)
Recommended Name: Repressor of RNA polymerase III transcription MAF1 homolog  
Size: 256 amino acids; 28771 Da
Subunit: Interacts with BRF2
Subcellular location: Nucleus. Cytoplasm
1 PDB 3D structure from and Proteopedia for MAF1:
3NR5 (3D)    
Secondary accessions: D3DWL4

Explore the universe of human proteins at neXtProt for MAF1: NX_Q9H063

Explore proteomics data for MAF1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H063

  • MAF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAF1 Protein Expression
    REFSEQ proteins: NP_115648.2  
    ENSEMBL proteins: 
     ENSP00000318604   ENSP00000433979   ENSP00000436720   ENSP00000431907   ENSP00000436030  
     ENSP00000436639  

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    Cloud-Clone Corp. Proteins for MAF1 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--

    MAF1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR017152 RNA_pol_III_tscrpt_repres_MAF1
     IPR015257 Maf1

    Graphical View of Domain Structure for InterPro Entry Q9H063

    ProtoNet protein and cluster: Q9H063

    UniProtKB/Swiss-Prot: MAF1_HUMAN, Q9H063
    Similarity: Belongs to the MAF1 family


    MAF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAF1_HUMAN, Q9H063
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001030RNA polymerase III type 1 promoter DNA binding IDA--
    GO:0001031RNA polymerase III type 2 promoter DNA binding IDA--
    GO:0001032RNA polymerase III type 3 promoter DNA binding IDA--
         
    MAF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Maf1):
     no phenotypic analysis 

    MAF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Maf1tm1Lnh for MAF1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAF1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/71 Interacting proteins for MAF1 (Q9H0632, 3 ENSP000003186044) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMTOR5O435042, 3MINT-63154 I2D: score=5 
    SUMO2P619562, 3MINT-65173 I2D: score=4 
    NUDT3O959892, 3MINT-8264810 I2D: score=2 
    CCND3P302813, ENSP000003620824I2D: score=4 STRING: ENSP00000362082
    ARMCX3Q9UH623, ENSP000003406724I2D: score=2 STRING: ENSP00000340672
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0016480negative regulation of transcription from RNA polymerase III promoter IDA--

    MAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAF1

    Search CenterWatch for drugs/clinical trials and news about MAF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAF1 gene: 
    NM_032272.4  

    Unigene Cluster for MAF1:

    MAF1 homolog (S. cerevisiae)
    Hs.19673  [show with all ESTs]
    Unigene Representative Sequence: NM_032272
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322428(uc003zbc.1) ENST00000534585 ENST00000532522 ENST00000527572
    ENST00000527058 ENST00000534811
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMAF1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAF1

    Additional mRNA sequence: 

    AL136937.1 BC014082.2 BC018714.1 BC031273.1 CR533463.1 

    19 DOTS entries:

    DT.456226  DT.95370014  DT.97855651  DT.92433869  DT.95370026  DT.86854204  DT.95370023  DT.100059461 
    DT.214349  DT.92447789  DT.95370020  DT.95370021  DT.100653825  DT.100694224  DT.100847506  DT.97792575 
    DT.100834273  DT.97855652  DT.97855654 

    24/509 AceView cDNA sequences (see all 509):

    BU727533 AI197822 AI081928 BU730617 CB854752 AI074361 AA721469 AI817120 
    CD365687 BM705477 BG314753 AL040071 BX490677 BQ709491 CD369052 BM762763 
    AI085917 BE222230 BQ086309 BQ670022 BM789545 CD366217 AI494521 BQ933142 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MAF1    About this scheme

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


    ECgene alternative splicing isoforms for MAF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGGCCGG
    MAF1 Expression
    About this image


    See MAF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAF1

    SOURCE GeneReport for Unigene cluster: Hs.19673
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAF1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Maf11 , 5 MAF1 homolog (S. cerevisiae)1, 5 87.24(n)1
    94.53(a)1
      15 (35.75 cM)5
    688771  NM_026859.31  NP_081135.31 
     763512945 
    chicken
    (Gallus gallus)
    Aves LOC1008576131 repressor of RNA polymerase III transcription MAF1 more 85.28(n)
    93.2(a)
      100857613  XM_003643541.1  XP_003643589.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAF16
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343789.1(195815-215875)
    African clawed frog
    (Xenopus laevis)
    Amphibia maf1-pending-prov2 MAF1 homolog (yeast) 77.26(n)    BC046951.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056831.12   -- 75.96(n)    BC056831.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG401961 CG40196 54.65(n)
    58.56(a)
      3354925  NM_001015168.3  NP_001015168.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C43H8.21 Protein C43H8.2 46.85(n)
    35.59(a)
      172953  NM_060376.3  NP_492777.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAF1(YDR005C)4 Negative regulator of RNA polymerase III; component more   --   4(458103-456836) 851568  NP_010288.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G132401 transcription regulator 48.31(n)
    41.18(a)
      831164  NM_121327.3  NP_196828.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g06629001 hypothetical protein 49.51(n)
    43.2(a)
      4337299  NM_001060695.1  NP_001054160.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAF1 gene

    MAF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAF1
    PGOHUM00000238197


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    1 SNPs in MAF1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0604084
    ----see VAR_0604082 G R mis40--------

    HapMap Linkage Disequilibrium report for MAF1 (145159305 - 145162515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for MAF1 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6448CNV Insertion18451855
    nsv891809CNV Loss21882294
    dgv7949n71CNV Loss21882294
    dgv7950n71CNV Loss21882294
    dgv906n27CNV Loss19166990
    nsv891812CNV Loss21882294
    dgv7955n71CNV Loss21882294
    nsv891807CNV Loss21882294
    dgv7954n71CNV Loss21882294
    esv29971CNV Loss17803354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MAF1 for disorders           About MalaCards
    OMIM gene information: 610210    OMIM disorders: --


    MAF1 for disorders           About GeneDecksing


    Export disorders for MAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MAF1 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with MAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    2. mTOR associates with TFIIIC, is found at tRNA and 5S rRNA genes, and targets their repressor Maf1. (PubMed id 20543138)1, 2 Kantidakis T....White R.J. (2010)
    3. Requirement of the mTOR kinase for the regulation of Maf1 phosphorylation and control of RNA polymerase III-dependent transcription in cancer cells. (PubMed id 20233713)1, 2 Shor B....Yu K. (2010)
    4. Human Maf1 negatively regulates RNA polymerase III transcription via the TFIIB family members Brf1 and Brf2. (PubMed id 17505538)1, 2 Rollins J.... Schramm L. (2007)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Maf1p, a negative effector of RNA polymerase III in Saccharomyces cerevisiae. (PubMed id 11438659)1, 3 Pluta K....Boguta M. (2001)
    8. Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases. (PubMed id 17499043)1, 9 Johnson S.S....Johnson D.L. (2007)
    9. Covalent small ubiquitin-like modifier (SUMO) modifica tion of Maf1 protein controls RNA polymerase III-dependent transcription repress ion. (PubMed id 23673667)1 Rohira A.D....Johnson D.L. (2013)
    10. Recovery of RNA polymerase III transcription from the glycerol-repressed state: revisiting the role of protein kinase CK2 in Maf1 phos phoregulation. (PubMed id 22810236)1 Moir R.D....Willis I.M. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84232 HGNC: 24966 AceView: MAF1 Ensembl:ENSG00000179632 euGenes: HUgn84232
    ECgene: MAF1 H-InvDB: MAF1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for MAF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MAF1 gene:
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