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Aliases for MAFA Gene

Aliases for MAFA Gene

  • MAF BZIP Transcription Factor A 2 3 5
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 2 3
  • Pancreatic Beta-Cell-Specific Transcriptional Activator 3 4
  • Transcription Factor RIPE3b1 3 4
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 4
  • Transcription Factor MafA 3
  • RIPE3b1 3
  • HMafA 3

External Ids for MAFA Gene

Previous GeneCards Identifiers for MAFA Gene

  • GC08U900345
  • GC08M144617
  • GC08M144582
  • GC08M144511
  • GC08M139764

Summaries for MAFA Gene

Entrez Gene Summary for MAFA Gene

  • 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, Mar 2008]

GeneCards Summary for MAFA Gene

MAFA (MAF BZIP Transcription Factor A) is a Protein Coding gene. Diseases associated with MAFA include Fibrosarcoma and Monogenic Diabetes. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is MAF.

UniProtKB/Swiss-Prot for MAFA Gene

  • 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 Gene

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

Genomics for MAFA Gene

Regulatory Elements for MAFA Gene

Enhancers for MAFA 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
GH08G143430 1.3 ENCODE dbSUPER 8.2 -0.7 -650 1.6 PKNOX1 AGO1 ARID4B SIN3A ZNF2 GLIS2 CBX5 ZNF207 ZNF143 DEK MAFA LOC105375798 GSDMD ZNF696 GRINA PIR44330
GH08G143914 2.2 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -506.7 -506699 45.2 CREB3L1 MLX AGO1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 PLEC ZNF251 ZNF517 ZNF250 LOC105375803 LRRC14 ZNF696 ZNF34 ZNF623 CYHR1
GH08G143428 1.1 ENCODE dbSUPER 8.1 +1.5 1539 1.9 HDGF TBL1XR1 AGO1 ZFP64 BMI1 ZNF48 ZNF2 ZEB1 ZNF263 SP3 JRK ZNF696 ZNF623 VPS28 TOP1MT MAFA MROH6 ENSG00000254859 MAFA-AS1
GH08G143427 1.2 ENCODE dbSUPER 7.4 +3.1 3127 0.2 HDAC1 HNRNPUL1 PTBP1 FUS AGO1 KLF17 SIN3A ZNF335 ZNF121 GLIS2 ZNF623 TIGD5 GPAA1 ADCK5 HGH1 HSF1 MAFA MAFA-AS1
GH08G143383 1.4 Ensembl ENCODE 5 +45.4 45378 4.3 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ENSG00000253931 MAFA-AS1 MINCR TOP1MT RHPN1 MROH6 MAFA OPLAH GC08M143377
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAFA on UCSC Golden Path with GeneCards custom track

Promoters for MAFA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232082 -568 1201 PKNOX1 AGO1 ARID4B SIN3A ZNF2 GLIS2 CBX5 ZNF207 ZNF143 DEK

Genomic Location for MAFA Gene

Chromosome:
8
Start:
143,419,182 bp from pter
End:
143,430,432 bp from pter
Size:
11,251 bases
Orientation:
Minus strand

Genomic View for MAFA Gene

Genes around MAFA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MAFA Gene

Proteins for MAFA Gene

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

    Protein Symbol:
    Q8NHW3-MAFA_HUMAN
    Recommended name:
    Transcription factor MafA
    Protein Accession:
    Q8NHW3

    Protein attributes for MAFA Gene

    Size:
    353 amino acids
    Molecular mass:
    36982 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Interacts with NEUROD1, PCAF and PDX1.

    Three dimensional structures from OCA and Proteopedia for MAFA Gene

neXtProt entry for MAFA Gene

Post-translational modifications for MAFA Gene

  • 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 a ubiquitin/proteasome-dependent pathway.
  • Ubiquitinated, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAFA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAFA Gene

Domains & Families for MAFA Gene

Gene Families for MAFA Gene

Suggested Antigen Peptide Sequences for MAFA Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHW3

UniProtKB/Swiss-Prot:

MAFA_HUMAN :
  • Belongs to the bZIP family. Maf subfamily.
Family:
  • Belongs to the bZIP family. Maf subfamily.
genes like me logo Genes that share domains with MAFA: view

Function for MAFA Gene

Molecular function for MAFA Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by glucose.

Gene Ontology (GO) - Molecular Function for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IDA 12368292
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 12368292
GO:0042803 protein homodimerization activity TAS 12368292
genes like me logo Genes that share ontologies with MAFA: view
genes like me logo Genes that share phenotypes with MAFA: view

Animal Models for MAFA Gene

MGI Knock Outs for MAFA:

Animal Model Products

Targeted motifs for MAFA Gene
HOMER Transcription Factor Regulatory Elements motif MAFA
  • Consensus sequence: TGCTGACTCA Submotif: canonical Cell Type: Islet GEO ID: GSE30298

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFA

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

Localization for MAFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFA Gene

Nucleus. Note=Detected in nuclei of pancreas islet beta cells. {ECO:0000250}.

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 MAFA gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12368292
genes like me logo Genes that share ontologies with MAFA: view

Pathways & Interactions for MAFA Gene

genes like me logo Genes that share pathways with MAFA: view

SIGNOR curated interactions for MAFA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 12368292
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007263 nitric oxide mediated signal transduction IDA 17941991
GO:0009749 response to glucose IDA 12368292
genes like me logo Genes that share ontologies with MAFA: view

Drugs & Compounds for MAFA Gene

(1) Drugs for MAFA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MAFA: view

Transcripts for MAFA Gene

mRNA/cDNA for MAFA Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAFA Gene

V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFA

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

No ASD Table

Relevant External Links for MAFA Gene

GeneLoc Exon Structure for
MAFA
ECgene alternative splicing isoforms for
MAFA

Expression for MAFA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAFA Gene

This gene is overexpressed in Muscle - Skeletal (x30.3) and Testis (x6.0).

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



NURSA nuclear receptor signaling pathways regulating expression of MAFA Gene:

MAFA

SOURCE GeneReport for Unigene cluster for MAFA Gene:

Hs.521914

Evidence on tissue expression from TISSUES for MAFA Gene

  • Pancreas(3.1)
genes like me logo Genes that share expression patterns with MAFA: view

Primer Products

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

Orthologs for MAFA Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 95 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia MAFA 34 35
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia MAFA 34 35
  • 90.5 (n)
mouse
(Mus musculus)
Mammalia Mafa 34 16 35
  • 88.13 (n)
rat
(Rattus norvegicus)
Mammalia Mafa 34
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia MAFA 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFA 34 35
  • 72.61 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mafa 34
  • 72.78 (n)
zebrafish
(Danio rerio)
Actinopterygii mafa 34 35
  • 70.48 (n)
mafl 34
fruit fly
(Drosophila melanogaster)
Insecta tj 35
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
ManyToMany
Species where no ortholog for MAFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAFA Gene

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

Paralogs for MAFA Gene

Paralogs for MAFA Gene

(6) SIMAP similar genes for MAFA Gene using alignment to 2 proteins:

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

Variants for MAFA Gene

Sequence variations from dbSNP and Humsavar for MAFA Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000236441 -- 143,430,275(+) GGCAG(A/G)CGGTG reference, synonymous-codon
rs1000880922 -- 143,431,486(+) GGGCG(A/G)GGCCC upstream-variant-2KB
rs1000936167 -- 143,431,289(+) GGCTC(A/T)GACGC upstream-variant-2KB
rs1000975846 -- 143,428,747(+) GGAGG(A/G)GGCAG utr-variant-3-prime
rs1001598046 -- 143,429,203(+) CCCGC(A/G)CCCGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1199n67 CNV gain 20364138
esv2668424 CNV deletion 23128226
esv3619107 CNV gain 21293372
nsv1112971 CNV deletion 24896259
nsv1144240 CNV deletion 24896259
nsv470247 CNV loss 18288195
nsv612768 CNV loss 21841781
nsv612769 CNV loss 21841781
nsv824765 CNV gain 20364138
nsv950012 CNV deletion 24416366

Variation tolerance for MAFA Gene

Gene Damage Index Score: 4.03; 60.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAFA Gene

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

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

Disorders for MAFA Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAFA Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
fibrosarcoma
  • fibrocytic tumor
monogenic diabetes
- elite association - COSMIC cancer census association via MalaCards
Search MAFA in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAFA

Genetic Association Database (GAD)
MAFA
Human Genome Epidemiology (HuGE) Navigator
MAFA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAFA
genes like me logo Genes that share disorders with MAFA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAFA Gene

Publications for MAFA Gene

  1. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. (PMID: 19573128) Garin I. … Perez de Nanclares G. (Diabet. Med. 2009) 3 22 46 64
  2. Synergistic activation of the insulin gene promoter by the beta-cell enriched transcription factors MafA, Beta2, and Pdx1. (PMID: 15993959) Aramata S. … Kataoka K. (Biochim. Biophys. Acta 2005) 3 4 22 64
  3. MafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin gene. (PMID: 12368292) Kataoka K. … Handa H. (J. Biol. Chem. 2002) 3 4 22 64
  4. Role of MafA in pancreatic beta-cells. (PMID: 19393272) Kaneto H. … Matsuhisa M. (Adv. Drug Deliv. Rev. 2009) 3 22 64
  5. PDX-1 functions as a master factor in the pancreas. (PMID: 18508668) Kaneto H. … Matsuhisa M. (Front. Biosci. 2008) 3 22 64

Products for MAFA Gene

Sources for MAFA Gene

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