Human Gene MAF (uc002ffn.3) Description and Page Index
  Description: Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 2, mRNA.
RefSeq Summary (NM_001031804): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:79,627,745-79,634,622 Size: 6,878 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr16:79,632,678-79,633,799 Size: 1,122 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:79,627,745-79,634,622)mRNA (may differ from genome)Protein (373 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transcription factor Maf; AltName: Full=Proto-oncogene c-Maf; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in endothelial cells.
INDUCTION: Up-regulated with tert-butyl hydroquinone (t-BHQ).
PTM: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids.
PTM: Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription.
DISEASE: 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.
DISEASE: Defects in MAF are the cause of cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202]. A form of cataract with nuclear or cortical pulverulent opacities. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. The phenotype shows significant intra- and interfamilial variation, both in the distribution of the cataract and the degree of opacification. Some patients with cataract pulverulent juvenile-onset can present microcornea and bilateral iris colobomas in addition to cataract.
DISEASE: Defects in MAF are the cause of cataract congenital cerulean type 4 (CCA4) [MIM:610202]. A cerulean form of congenital cataract. 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.
SIMILARITY: Belongs to the bZIP family. Maf subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAF
CDC HuGE Published Literature: MAF
Positive Disease Associations: Albumins , Body Weight , Body Weights and Measures , gamma-Glutamyltransferase , Goiter , Myocardial Infarction , Natriuretic Peptide, Brain , obesity , Respiratory Function Tests , Socioeconomic Factors , Thyrotropin , Waist-Hip Ratio
Related Studies:
  1. Albumins
    , , . [PubMed 0]
  2. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MAF
Diseases sorted by gene-association score: ayme-gripp syndrome* (1330), cataract 21, multiple types* (1330), cerulean cataract* (389), cataract microcornea syndrome* (184), cataract 30, pulverulent* (175), fibrosarcoma (31), nephrogenic adenofibroma (16), cataract (16), multiple myeloma (12), placental choriocarcinoma (10), cataract 37 (9), epithelial predominant wilms' tumor (9), plasma cell leukemia (8), enterobiasis (7), perry syndrome (5), monoclonal gammopathy of uncertain significance (4), intellectual disability (2), connective tissue cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 32.27 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 564.73 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -420.40823-0.511 Picture PostScript Text
3' UTR -1282.504933-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR004826 - bZIP_Maf
IPR008917 - Euk_TF_DNA-bd
IPR013592 - Maf_TF_N
IPR024874 - Transciption_factor_Maf

Pfam Domains:
PF03131 - bZIP Maf transcription factor
PF08383 - Maf N-terminal region

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors

ModBase Predicted Comparative 3D Structure on O75444
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001816 cytokine production
GO:0002088 lens development in camera-type eye
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0010628 positive regulation of gene expression
GO:0032330 regulation of chondrocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048468 cell development
GO:0048839 inner ear development
GO:0070306 lens fiber cell differentiation

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  AF447709 - Homo sapiens T lymphocyte c-maf long form mRNA, 3' UTR and partial cds.
BC081542 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian), mRNA (cDNA clone MGC:71685 IMAGE:30347784), complete cds.
FW339970 - Screening.
AF055377 - Homo sapiens long form transcription factor C-MAF (c-maf) mRNA, complete cds.
JD440311 - Sequence 421335 from Patent EP1572962.
X79984 - H.sapiens AA1 mRNA.
AF055376 - Homo sapiens short form transcription factor C-MAF (c-maf) mRNA, complete cds.
BC038438 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian), mRNA (cDNA clone IMAGE:4755216).
JD320849 - Sequence 301873 from Patent EP1572962.
JD310672 - Sequence 291696 from Patent EP1572962.
JD217688 - Sequence 198712 from Patent EP1572962.
JD472831 - Sequence 453855 from Patent EP1572962.
JD099101 - Sequence 80125 from Patent EP1572962.
JD406048 - Sequence 387072 from Patent EP1572962.
JD458415 - Sequence 439439 from Patent EP1572962.
JD458224 - Sequence 439248 from Patent EP1572962.
JD406014 - Sequence 387038 from Patent EP1572962.
JD478927 - Sequence 459951 from Patent EP1572962.
JD082336 - Sequence 63360 from Patent EP1572962.
JD253888 - Sequence 234912 from Patent EP1572962.
JD389448 - Sequence 370472 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75444 (Reactome details) participates in the following event(s):

R-HSA-8984994 RUNX2 binds MAF
R-HSA-8877918 RUNX2:MAF complex binds the BGLAP gene promoter
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: MAF_HUMAN, NM_001031804, NP_001026974, O75444, Q66I47, Q9UP93
UCSC ID: uc002ffn.3
RefSeq Accession: NM_001031804
Protein: O75444 (aka MAF_HUMAN)
CCDS: CCDS42198.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MAF:
ayme-gripp (Ayme-Gripp Syndrome)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001031804.2
exon count: 1CDS single in 3' UTR: no RNA size: 6887
ORF size: 1122CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1402.50frame shift in genome: no % Coverage: 99.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.