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MAFA Gene

protein-coding   GIFtS: 53

GC08M144582
v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
RIPE3B1 5
RIPE3b1 1, 2
hMafA 1, 2
Descriptions
Pancreatic beta-cell-specific transcriptional activator 3
Transcription factor RIPE3b1 3
V-maf musculoaponeurotic fibrosarcoma oncogene homolog A 2, 3
v-maf musculoaponeurotic fibrosarcoma oncogene homolog A
(avian) 2
External Ids
HGNC: 231451
Entrez Gene: 3896922
UniProtKB: Q8NHW33
Ensembl: ENSG000001827597
Search outside databases for aliases for MAFA gene

Previous GC identifers: GC08U900345 GC08M144617

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

EntrezGene summary for MAFA:
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates
pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al.,
2002 [PubMed 12011435]).[supplied by OMIM]

UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3
Function: Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b
and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1.
Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic
activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context

Gene Wiki entry for MAFA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAFA gene  

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

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

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144582:     (about GC identifiers)

Start:
144,582,658 bp from pter
End:
144,583,719 bp from pter
Size:
1,062 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000008.9  NT_023684.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3 (See protein sequence)
Recommended Name: Transcription factor MafA  
Size: 352 amino acids; 36845 Da
Subunit: Binds DNA as a homodimer (Probable). Interacts with NEUROD1, PCAF and PDX1
Subcellular location: Nucleus. Note=Detected in nuclei of pancreas islet beta cells (By similarity)

Post-translational modifications:

  • Ubiquitinated, leading to its degradation by the proteasome1
  • Ser-14 and Ser-65 appear to be the major phosphorylation sites. Phosphorylated by MAPK13 on serine
    and threonine residues (Probable). Phosphorylation by GSK3 requires prior phosphorylation of
    Ser-65 by another kinase. Phosphorylation proceeds then from Ser-61 to Thr-57, Thr-53 and Ser-49.
    GSK3-mediated phosphorylation increases its transcriptional activity through the recruitment of
    the coactivator PCAF, is required for its transforming activity and leads to its degradation
    through an ubiquitin/proteasome-dependent pathway1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_963883.2  

    ENSEMBL proteins: 
    ENSP00000328364 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MafA, MAFA)
    Human Recombinant Proteins from Abnova (MAFA)
                  OriGene Purified Recombinant Human Protein: MAFA 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA12368292
    About this table

    Antibodies for MAFA: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for MAFA
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (MafA, MAFA), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MAFA)
    Novus Biologicals Antibodies for MAFA

    Assays for MAFA: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR004827 TF_bZIP
     IPR013592 Maf_TF_N
     IPR004826 TF_Maf


       GeneDecks  MAFA for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8NHW3

    ProtoNet protein and cluster: Q8NHW3

    2 Blocks protein families:
    IPB004826 Maf transcription factor
    IPB013592 Maf transcription factor


    UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3
    Similarity: Belongs to the bZIP family. Maf subfamily
    Similarity: Contains 1 bZIP domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MAFA)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAFA)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_201589

                  Applied Biosystems Silencer® siRNAs for MAFA

                  Sigma-Aldrich siRNA for MAFA  
                         Sigma-Aldrich shRNA for MAFA  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_201589
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_201589
                                     untagged cDNA clone in CMV expression vector: NM_201589 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_201589

    UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3
    Function: Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b
    and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1.
    Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic
    activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context
    Induction: Up-regulated by glucose

    5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mafa):

    digestive/alimentaryendocrine/exocrine glandgrowth/sizehomeostasis/metabolismrenal/urinary system

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity TAS12368292
    GO:0016563 transcription activator activity IEA--
    GO:0042803 protein homodimerization activity TAS12368292
    GO:0043565 sequence-specific DNA binding IEA--
    GO:0046982 protein heterodimerization activity NAS12368292
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  MAFA  (Your Favorite Gene powered by Ingenuity) 
     Type II Diabetes Mellitus Signaling

       GeneDecks  MAFA for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for MAFA):
     hsa04930 Type II diabetes mellitus
     hsa04950 Maturity onset diabetes of the young

       GeneDecks  MAFA for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  MAFA 


    5/9 Interacting proteins for MAFA (ENSP000003283643) via UniProtKB, MINT, and/or STRING (see all 9 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDX1ENSP000003704213STRING (score=.993)
    INSENSP000003707313STRING (score=.975)
    NEUROD1ENSP000002951083STRING (score=.88)
    IGF1RENSP000002680353STRING (score=.817)
    IGF1ENSP000003026653STRING (score=.814)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent TAS12368292
    GO:0007263 nitric oxide mediated signal transduction IDA17941991
    GO:0009749 response to glucose stimulus IDA12368292
    GO:0030073 insulin secretion IDA17941991
    GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MAFA
    1 Novoseek chemical compound relationship for MAFA gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 44.41 39 8613527 (4), 17682063 (4), 12368292 (3), 8289826 (2) (see all 9)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MAFA)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAFA)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_201589

                  Sigma-Aldrich siRNA for MAFA  
                         Sigma-Aldrich shRNA for MAFA  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_201589  

    REFSEQ mRNAs for MAFA gene: 

    NM_201589.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_201589  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_201589
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_201589
                                     untagged cDNA clone in CMV expression vector: NM_201589 

    1 DOTS entry:

    DT.97838907 

    1 AceView cDNA sequence:

    AI761030 

    highest scoring ESTs for MAFA:

    BE676631 BM052845 BM127748 AA452554 AI761030 AI805256 BE621358 BM052615 NM_201589 BM126790 

    Unigene Cluster for MAFA:

    V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)
    Hs.670866  [show with all ESTs]
    Unigene Representative Sequence: NM_201589


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000333480  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MAFA expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MAFA

    1 / 3Data from (Publications) and GNF BioGPS
        About these images

    About these images

    CGAP SAGE TAG: TCGGTGCGCG

    SOURCE GeneReport for Unigene cluster: Hs.670866
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MAFA gene from 3 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    rat
    (Rattus norvegicus)
    Mafa1   -- v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 90.88(n)
    94.3(a)
    366949  XM_345846.2  XP_345847.2 
    mouse
    (Mus musculus)
    Mafa1, 5 155
    v-maf musculoaponeurotic fibrosarcoma oncogene family, more1, 5 91.93(n)1
    95.16(a)1
    3784351  NM_194350.11  NP_919331.11 
     AB0869615  BC1561905  (see all 6)
    zebrafish
    (Danio rerio)
    mafl2   -- v-maf musculoaponeurotic fibrosarcoma (avian) oncogene more 82.63(n) 114468  AB006324.2 
    About this table        Species with no ortholog for MAFA

    ENSEMBL Gene Tree for MAFA
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MAFA gene
    NRL2  MAF2  MAFB2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/21 NCBI SNPs in MAFA are shown (see all 21 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 57)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 8 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs19944481,2
    A,C,F,H144585526(+) GTCCCA/GGAGGG 1 -- ng313Minor allele frequency- G:0.42EA WA 294
    --
    rs20548441,2
    A,C144584725(+) CCGGCG/TTGTGG 1 -- ng310--------
    --
    rs73866851,2
    C144582532(+) TGGCAC/GCGGGG 1 -- ng510--------
    --
    rs78306821,2
    C144584346(+) TCCCAC/GACCCG 1 -- ng310--------
    rs117743141,2
    H144585259(+) CACGGT/CGCCGC 1 -- ng314Minor allele frequency- C:0.00EU EA WA 412
    --
    rs48741151,2
    --144582428(+) TTAGAA/TATCAC 1 -- ng510--------
    rs355417091,2
    --144585257(+) GTCACA/GGCGCC 1 -- ng310--------
    --
    rs625218741,2
    --144582681(+) CGTGCA/CCTTGG 1 G/C mis10--------
    --
    rs591766011,2
    --144583124(+) GGTGG-/TGGGCGGC 2 H/ H/P fra10--------
    --
    rs345409421,2
    --144585160(+) AGCAA-/TTTAAA 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for MAFA (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 610303

    2 Novoseek disease relationships for MAFA gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrosarcoma 58.66 4 18778246 (1), 17131142 (1), 17149590 (1), 18851698 (1)
    insulinoma 47.28 1 14765989 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/38 PubMed articles for MAFA gene (see all 38 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 389692 HGNC: 23145 AceView: MAFA Ensembl:ENSG00000182759 euGenes: HUgn389692
    ECgene: MAFA H-InvDB: MAFA
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for MAFA Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for MAFA:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for MAFA-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for MAFA Antibodies for MAFA
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for MAFA Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (MAFA)
     Antibodies (MAFA)
     Chimera RNAi (MAFA)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (MafA, MAFA)
     Antibodies (MafA, MAFA)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for MAFA




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for MAFA

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