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Aliases for MAF Gene

Aliases for MAF Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog 2 3
  • Proto-Oncogene C-Maf 3 4
  • CCA4 3 6
  • Avian Musculoaponeurotic Fibrosarcoma (MAF) Protooncogene 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog 4
  • T Lymphocyte C-Maf Long Form 3
  • Transcription Factor Maf 3
  • C-Maf Proto-Oncogene 3
  • CTRCT21 3
  • C-MAF 3

External Ids for MAF Gene

Previous GeneCards Identifiers for MAF Gene

  • GC16M070559
  • GC16M080589
  • GC16M079366
  • GC16M079407
  • GC16M078185
  • GC16M065384

Summaries for MAF Gene

Entrez Gene Summary for MAF Gene

  • The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

GeneCards Summary for MAF Gene

MAF (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog) is a Protein Coding gene. Diseases associated with MAF include cataract 21, multiple types and cerulean cataract. Among its related pathways are Transcriptional misregulation in cancer and C-MYB transcription factor network. 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 MAFA.

UniProtKB/Swiss-Prot for MAF Gene

  • Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5-[GT]G[GC]N[GT]NCTCAGNN-3 in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.

Gene Wiki entry for MAF Gene

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

Genomics for MAF Gene

Regulatory Elements for MAF Gene

Epigenetics Products

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

Genomic Location for MAF Gene

Start:
79,585,843 bp from pter
End:
79,600,725 bp from pter
Size:
14,883 bases
Orientation:
Minus strand

Genomic View for MAF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAF Gene

Proteins for MAF Gene

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

    Protein Symbol:
    O75444-MAF_HUMAN
    Recommended name:
    Transcription factor Maf
    Protein Accession:
    O75444
    Secondary Accessions:
    • Q66I47
    • Q9UP93

    Protein attributes for MAF Gene

    Size:
    373 amino acids
    Molecular mass:
    38492 Da
    Quaternary structure:
    • Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or as a heterodimer. Heterotetramer of two MAF and two USF2. Interacts with PAX6; the interaction is direct. Interacts with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through the TCR engagement. Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in response to differentiating signals. Interacts with USF2; the interaction inhibits its DNA-binding activity on the L7 promoter. Interacts with CREBBP, EP300 and ETS1 (By similarity).

    Alternative splice isoforms for MAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAF Gene

Proteomics data for MAF Gene at MOPED

Post-translational modifications for MAF Gene

  • Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription.
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAF Gene

No data available for DME Specific Peptides for MAF Gene

Domains for MAF Gene

Suggested Antigen Peptide Sequences for MAF Gene

Graphical View of Domain Structure for InterPro Entry

O75444

UniProtKB/Swiss-Prot:

MAF_HUMAN :
  • O75444
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 MAF: view

No data available for Gene Families for MAF Gene

Function for MAF Gene

Molecular function for MAF Gene

GENATLAS Biochemistry: avian musculoaponeurotic fibrosarcoma (v-maf) oncogene homolog
UniProtKB/Swiss-Prot Function: Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5-[GT]G[GC]N[GT]NCTCAGNN-3 in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.
UniProtKB/Swiss-Prot Induction: Up-regulated with tert-butyl hydroquinone (t-BHQ).

Gene Ontology (GO) - Molecular Function for MAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0005515 protein binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MAF: view
genes like me logo Genes that share phenotypes with MAF: view

Animal Models for MAF Gene

MGI Knock Outs for MAF:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MAF Gene

Localization for MAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAF Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAF Gene COMPARTMENTS Subcellular localization image for MAF gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin TAS 9616139
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MAF: view

Pathways for MAF Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for MAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001816 cytokine production IEA --
GO:0002088 lens development in camera-type eye --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 9616139
genes like me logo Genes that share ontologies with MAF: view

Compounds for MAF Gene

(4) Novoseek inferred chemical compound relationships for MAF Gene

Compound -log(P) Hits PubMed IDs
tbhq 71.4 1
leucine 63 8
glucose 0 1
arginine 0 1
genes like me logo Genes that share compounds with MAF: view

Transcripts for MAF Gene

Unigene Clusters for MAF Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MAF Gene

GeneLoc Exon Structure for
MAF
ECgene alternative splicing isoforms for
MAF

Expression for MAF Gene

mRNA expression in normal human tissues for MAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MAF Gene

SOURCE GeneReport for Unigene cluster for MAF Gene Hs.134859

mRNA Expression by UniProt/SwissProt for MAF Gene

O75444-MAF_HUMAN
Tissue specificity: Expressed in endothelial cells.
genes like me logo Genes that share expressions with MAF: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MAF Gene

Orthologs for MAF Gene

This gene was present in the common ancestor of animals.

Orthologs for MAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAF 35
  • 99.73 (n)
  • 99.73 (a)
MAF 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAF 35
  • 92.4 (n)
  • 91.96 (a)
MAF 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maf 35
  • 93.24 (n)
  • 94.05 (a)
Maf 16
Maf 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAF 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAF 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Maf 35
  • 91.87 (n)
  • 92.41 (a)
chicken
(Gallus gallus)
Aves MAF 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAF 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15477 35
zebrafish
(Danio rerio)
Actinopterygii maf 35
maf 36
  • 80 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tj 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
Species with no ortholog for MAF:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 MAF Gene

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

Paralogs for MAF Gene

Paralogs for MAF Gene

Selected SIMAP similar genes for MAF Gene using alignment to 3 proteins:

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

Variants for MAF Gene

Sequence variations from dbSNP and Humsavar for MAF Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs30408 -- 79,593,385(-) AGACA(A/G)ATCAT downstream-variant-500B
rs30409 -- 79,593,782(+) ATTTT(C/T)TTTTT downstream-variant-500B
rs30410 -- 79,593,795(-) GCTCC(C/T)ACTCA downstream-variant-500B
rs30411 -- 79,594,060(-) GCTTC(A/G)TTGTT utr-variant-3-prime
rs30412 -- 79,594,275(-) AGACC(C/G)GTAGG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv833295 CNV Gain 17160897
nsv827768 CNV Gain 20364138
nsv827769 CNV Gain 20364138
esv2672388 CNV Deletion 23128226
nsv819930 CNV Gain 19587683

Relevant External Links for MAF Gene

HapMap Linkage Disequilibrium report
MAF
Human Gene Mutation Database (HGMD)
MAF
Locus Specific Mutation Databases (LSDB)
MAF

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

Disorders for MAF Gene

(1) OMIM Diseases for MAF Gene (177075)

UniProtKB/Swiss-Prot

MAF_HUMAN
  • Note=A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus.
  • Cataract 21, multiple types (CTRCT21) [MIM:610202]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, pulverised appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269 PubMed:11772997, ECO:0000269 PubMed:16470690}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MAF Gene

(8) Novoseek inferred disease relationships for MAF Gene

Disease -log(P) Hits PubMed IDs
microcornea 65.5 2
plasma cell leukemia 57 1
congenital cataract 53.4 2
erythroleukemia 42.7 1
cataract 35.7 5

Relevant External Links for MAF

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

Publications for MAF Gene

  1. c-Maf negatively regulates ARE-mediated detoxifying enzyme genes expression and anti-oxidant induction. (PMID: 12149651) Dhakshinamoorthy S. … Jaiswal A.K. (Oncogene 2002) 3 4 23
  2. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (PMID: 11772997) Jamieson R.V. … Black G.C. (Hum. Mol. Genet. 2002) 3 4 23
  3. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. (PMID: 16470690) Vanita V. … Singh J.R. (Am. J. Med. Genet. A 2006) 3 4 23
  4. CD13/APN transcription is regulated by the proto-oncogene c-Maf via an atypical response element. (PMID: 17897790) Mahoney K.M. … Shapiro L.H. (Gene 2007) 3 4 23
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B. … Franks P.W. (Diabetologia 2010) 3 48

Products for MAF Gene

  • Addgene plasmids for MAF

Sources for MAF Gene

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