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Aliases for MAFA Gene

Aliases for MAFA Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 2 3 5
  • Pancreatic Beta-Cell-Specific Transcriptional Activator 3 4
  • Transcription Factor RIPE3b1 3 4
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 4
  • 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 (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A) is a Protein Coding gene. Diseases associated with MAFA include fibrosarcoma and monogenic diabetes. Among its related pathways are Type II diabetes mellitus and Developmental Biology. 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 MAFG.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAFA Gene

Genomics for MAFA Gene

Regulatory Elements for MAFA Gene

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

Proteomics data for MAFA Gene at MOPED

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 :
  • Contains 1 bZIP (basic-leucine zipper) domain.
  • Belongs to the bZIP family. Maf subfamily.
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.
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:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS 12368292
GO:0005515 protein binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0046982 protein heterodimerization activity NAS 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

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
Jensen Localization Image for MAFA Gene COMPARTMENTS Subcellular localization image for MAFA gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for MAFA Gene

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:0006355 regulation of transcription, DNA-templated IEA,TAS 12368292
genes like me logo Genes that share ontologies with MAFA: view

Drugs & Compounds for MAFA Gene

(1) Additional Compounds for MAFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 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



SOURCE GeneReport for Unigene cluster for MAFA Gene Hs.521914

genes like me logo Genes that share expression patterns with MAFA: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 -- 36
  • 95 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia MAFA 36
  • 94 (a)
OneToOne
MAFA 35
  • 90.5 (n)
  • 90.88 (a)
dog
(Canis familiaris)
Mammalia MAFA 35
  • 92.05 (n)
  • 89.83 (a)
MAFA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafa 16
Mafa 35
  • 88.13 (n)
  • 88.89 (a)
Mafa 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAFA 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mafa 35
  • 82.53 (n)
  • 81.77 (a)
chicken
(Gallus gallus)
Aves MAFA 35
  • 72.61 (n)
  • 77.62 (a)
MAFA 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mafa 35
  • 72.78 (n)
  • 75.43 (a)
zebrafish
(Danio rerio)
Actinopterygii mafa 36
  • 70 (a)
OneToOne
mafa 35
  • 70.48 (n)
  • 68.57 (a)
mafl 35
fruit fly
(Drosophila melanogaster)
Insecta tj 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
Species with no ortholog for MAFA:
  • 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
rs2054844 -- 143,431,412(+) CCGGC(G/T)TGTGG upstream-variant-2KB
rs4486223 -- 143,430,687(-) GCGGG(A/G)GCGGT upstream-variant-2KB
rs4577972 -- 143,430,616(-) CCGAG(A/G)CACCT upstream-variant-2KB
rs4874114 -- 143,429,029(+) GCAGG(A/G)CGAAG utr-variant-3-prime
rs4874115 -- 143,429,115(+) TTAGA(A/T)ATCAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv7920n71 CNV Loss 21882294
nsv891671 CNV Loss 21882294
nsv470247 CNV Loss 18288195
nsv891674 CNV Loss 21882294
nsv891675 CNV Loss 21882294
nsv891676 CNV Loss 21882294
dgv7924n71 CNV Loss 21882294
dgv7925n71 CNV Loss 21882294
nsv891682 CNV Loss 21882294
dgv7926n71 CNV Loss 21882294
nsv891687 CNV Loss 21882294
dgv7927n71 CNV Loss 21882294
dgv7928n71 CNV Loss 21882294
dgv7929n71 CNV Loss 21882294
nsv891696 CNV Loss 21882294
dgv1199n67 CNV Gain 20364138
nsv824765 CNV Gain 20364138
esv2668424 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
MAFA

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

Disorders for MAFA Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAFA Gene - From: GeneCards

Disorder Aliases PubMed IDs
fibrosarcoma
  • fibrocytic tumor
monogenic diabetes
maturity-onset diabetes of the young
  • mason-type 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. 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 23 67
  2. Role of MafA in pancreatic beta-cells. (PMID: 19393272) Kaneto H. … Matsuhisa M. (Adv. Drug Deliv. Rev. 2009) 3 23
  3. 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 23
  4. PDX-1 functions as a master factor in the pancreas. (PMID: 18508668) Kaneto H. … Matsuhisa M. (Front. Biosci. 2008) 3 23
  5. 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. (PMID: 16847327) Raum J.C. … Stein R. (Mol. Cell. Biol. 2006) 3 23

Products for MAFA Gene

Sources for MAFA Gene

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