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Aliases & Descriptions for MAFA
(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 |
|
| | Search outside databases for aliases for MAFA genePrevious GC identifers: GC08U900345 GC08M144617 |
Summaries for MAFA(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, Q8NHW3Function: 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 contextGene Wiki entry for MAFA |
Genomic Location 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: 8q24.3MAFA 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
| Proteins for MAFA
(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)
About This Section
| 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               OriGene Purified Recombinant Human Protein: MAFA 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for MAFA: Assays for MAFA: | Protein
Domains/ Families for MAFA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q8NHW3Similarity: Belongs to the bZIP family. Maf subfamilySimilarity: Contains 1 bZIP domain | Gene Function for MAFA
(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
|               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 
              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, Q8NHW3Function: 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 contextInduction: Up-regulated by glucose5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mafa):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for MAFA
(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) 
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
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for MAFA(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 Tocris compounds for MAFA 1 Novoseek chemical compound relationship for MAFA gene
About this table
|
Transcripts for MAFA(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
|               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
|
Expression for MAFA
(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 / 3 Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TCGGTGCGCG
SOURCE GeneReport for Unigene cluster: Hs.670866
|
Orthologs for MAFA
(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
About this table Species with no ortholog for MAFA
ENSEMBL Gene Tree for MAFA | Paralogs for MAFA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MAFA gene
- NRL2 MAF2 MAFB2
|
SNPs/Variants for MAFA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for MAFA (up to first 250kb)
|
Disorders & Mutations for MAFA
(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
About this table
|
Medical News for MAFA(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MAFA (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
):- MafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin gene. (PubMed id 12368292)1, 3, 4 Kataoka K.... Handa H. (2002)
- Synergistic activation of the insulin gene promoter by the beta-cell enriched transcription factors MafA, Beta2, and Pdx1. (PubMed id 15993959)1, 3, 4 Aramata S....Kataoka K. (2005)
- GSK-3-mediated phosphorylation enhances Maf-transforming activity. (PubMed id 18042454)3, 4 Rocques N....Pouponnot C. (2007)
- The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription. (PubMed id 15665000)3, 4 Zhao L....Stein R. (2005)
- Identification of beta-cell-specific insulin gene transcription factor RIPE3b1 as mammalian MafA. (PubMed id 12011435)3, 4 Olbrot M.... Sharma A. (2002)
- Phosphorylation of MafA is essential for its transcriptional and biological properties. (PubMed id 11416124)3, 4 Benkhelifa S....Felder-Schmittbuhl M.P. (2001)
- FoxA2, Nkx2.2, and PDX-1 regulate islet beta-cell-specific mafA expression through conserved sequences located between base pairs -8118 and -7750 upstream from the transcription start site. (PubMed id 16847327)1, 3 Raum J.C....Stein R. (2006)
- PDX-1 functions as a master factor in the pancreas. (PubMed id 18508668)1, 3 Kaneto H....Matsuhisa M. (2008)
- MafA and MafB regulate Pdx1 transcription through the Area II control region in pancreatic beta cells. (PubMed id 18522939)3 Vanhoose A.M....Stein R. (2008)
- A new MAFia in cancer. (PubMed id 18701893)3 Eychene A....Pouponnot C. (2008)
|
Search for MAFA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MAFA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MAFA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MAFA(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
|
| About This Section
| --
| Services for MAFA(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
| 
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Incremental update: 13 Oct 2009
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