Mouse Gene Mafa (ENSMUST00000062002.5) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A (avian) (Mafa), mRNA. (from RefSeq NM_194350)
Gencode Transcript: ENSMUST00000062002.5
Gencode Gene: ENSMUSG00000047591.5
Transcript (Including UTRs)
   Position: mm10 chr15:75,745,490-75,748,228 Size: 2,739 Total Exon Count: 1 Strand: -
Coding Region
   Position: mm10 chr15:75,746,843-75,747,922 Size: 1,080 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:75,745,490-75,748,228)mRNA (may differ from genome)Protein (359 aa)
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ReactomeSOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MAFA_MOUSE
DESCRIPTION: RecName: Full=Transcription factor MafA; AltName: Full=Pancreatic beta-cell-specific transcriptional activator; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog A;
FUNCTION: Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic activity (By similarity). Regulates the insulin gene transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context.
SUBUNIT: Binds DNA as a homodimer (By similarity). Interacts with PCAF (By similarity). Interacts with NEUROD1 and PDX1.
SUBCELLULAR LOCATION: Nucleus. Note=Detected in nuclei of pancreas islet beta cells.
TISSUE SPECIFICITY: Selectively expressed in pancreatic beta but not in alpha cells (at protein level). Expressed in eyes and at low levels in thymus. Expressed in brain, lung, spleen and kidney. Expressed in embryo.
DEVELOPMENTAL STAGE: Expressed on E14. During fetal period (12.5 dpc) detected in each formed somite and expression appears to be in the myotomal cells. Also expressed in the head neural tube and liver cells. Expressed at low levels some mesenchyme-like cells.
PTM: Ubiquitinated, leading to its degradation by the proteasome (By similarity).
PTM: 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 an ubiquitin/proteasome- dependent pathway (By similarity). Ser-14 and Ser-65 appear to be the major phosphorylation sites. Phosphorylated by MAPK13 on serine and threonine residues (Probable).
DISRUPTION PHENOTYPE: Mice show a normal pancreatic morphology at birth, but after birth a reduction in the proportion of beta-cells with resulting impaired glucose tolerance and diabetes.
SIMILARITY: Belongs to the bZIP family. Maf subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -175.80306-0.575 Picture PostScript Text
3' UTR -502.001353-0.371 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
46785 - "Winged helix" DNA-binding domain
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on Q8CF90
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-  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.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007263 nitric oxide mediated signal transduction
GO:0009749 response to glucose
GO:0030073 insulin secretion
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC156190 - Synthetic construct Mus musculus clone IMAGE:100061609, MGC:190257 v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A (avian) (Mafa) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
mmu04930 - Type II diabetes mellitus
mmu04950 - Maturity onset diabetes of the young

-  Other Names for This Gene
  Alternate Gene Symbols: MAFA_MOUSE, NM_194350, Q8CF90, uc007whe.1, uc007whe.2
UCSC ID: uc007whe.2
RefSeq Accession: NM_194350
Protein: Q8CF90 (aka MAFA_MOUSE)
CCDS: CCDS27549.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.