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Aliases for MAFA Gene

Aliases for MAFA Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 2 3
  • Pancreatic Beta-Cell-Specific Transcriptional Activator 3 4
  • Transcription Factor RIPE3b1 3 4
  • RIPE3b1 3 6
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 4
  • Transcription Factor MafA 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 L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAFA Gene

Genomics for MAFA Gene

Regulatory Elements for MAFA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAFA Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MAFA Gene

Domains for MAFA Gene

Suggested Antigen Peptide Sequences for MAFA Gene

Graphical View of Domain Structure for InterPro Entry

Q8NHW3

UniProtKB/Swiss-Prot:

MAFA_HUMAN :
  • Q8NHW3
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

No data available for Gene Families for MAFA Gene

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:0003677 DNA binding IDA 12368292
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 12368292
GO:0042803 protein homodimerization activity TAS 12368292
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 Model Products

CRISPR Products

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA and Transcription Factor Targeting 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

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 for MAFA Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Terminal Differentiation Markers in human,mouse,rat

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:0007263 nitric oxide mediated signal transduction IDA 17941991
GO:0009749 response to glucose IDA 12368292
GO:0030073 insulin secretion IDA 17941991
genes like me logo Genes that share ontologies with MAFA: view

Compounds for MAFA Gene

(1) Novoseek inferred chemical compound relationships for MAFA Gene

Compound -log(P) Hits PubMed IDs
glucose 41.6 21
genes like me logo Genes that share compounds with MAFA: view

Transcripts for MAFA Gene

mRNA/cDNA for MAFA Gene

(0) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAFA

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MAFA

Flow Cytometry Products

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 (30.3) and Testis (6.0).

Integrated Proteomics: protein expression 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 expressions with MAFA: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 90.5 (n)
  • 90.88 (a)
MAFA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAFA 35
  • 92.05 (n)
  • 89.83 (a)
MAFA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafa 35
  • 88.13 (n)
  • 88.89 (a)
Mafa 16
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 35
  • 70.48 (n)
  • 68.57 (a)
mafa 36
  • 70 (a)
OneToOne
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

Selected 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 MAF
rs1466621 -- 143,428,467(-) AGAAA(A/C/T)TTTTT utr-variant-3-prime
rs1466622 -- 143,428,297(-) GCTCC(A/G)GGCCC utr-variant-3-prime
rs1872900 -- 143,429,825(-) CACCA(C/T)CACCA synonymous-codon, reference
rs1994448 -- 143,432,213(+) GTCCC(A/G)GAGGG upstream-variant-2KB
rs1994449 -- 143,432,273(+) CAGCA(A/G)AGCCA upstream-variant-2KB

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

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

MalaCards: The human disease database. (3) Diseases for MAFA Gene including...

Search for MAFA Gene in MalaCards »

(3) Novoseek inferred disease relationships for MAFA Gene

Disease -log(P) Hits PubMed IDs
fibrosarcoma 61.9 5
insulinoma 45 1
hyperglycemia 29.9 1

Relevant External Links for MAFA

Genetic Association Database (GAD)
MAFA
Human Genome Epidemiology (HuGE) Navigator
MAFA
genes like me logo Genes that share disorders with MAFA: view

No data available for UniProtKB/Swiss-Prot 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
  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 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 48
  4. The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription. (PMID: 15665000) Zhao L. … Stein R. (J. Biol. Chem. 2005) 3 4
  5. Phosphorylation of MafA is essential for its transcriptional and biological properties. (PMID: 11416124) Benkhelifa S. … Felder-Schmittbuhl M.-P. (Mol. Cell. Biol. 2001) 3 4

Products for MAFA Gene

Sources for MAFA Gene

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