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Aliases for MAFF Gene

Aliases for MAFF Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog F 2 3 5
  • U-MAF 3 4
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Family Protein F 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog F 4
  • HMafF 3

External Ids for MAFF Gene

Previous GeneCards Identifiers for MAFF Gene

  • GC22P035212
  • GC22P036841
  • GC22P036922
  • GC22P038597
  • GC22P021564

Summaries for MAFF Gene

Entrez Gene Summary for MAFF Gene

  • The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

GeneCards Summary for MAFF Gene

MAFF (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog F) is a Protein Coding gene. Diseases associated with MAFF include fibrosarcoma and ulnar neuropathy. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Factors involved in megakaryocyte development and platelet production. 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 MAFA.

UniProtKB/Swiss-Prot for MAFF Gene

  • Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response.

Gene Wiki entry for MAFF Gene

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

Genomics for MAFF Gene

Regulatory Elements for MAFF Gene

Enhancers for MAFF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAFF on UCSC Golden Path with GeneCards custom track

Genomic Location for MAFF Gene

Chromosome:
22
Start:
38,200,767 bp from pter
End:
38,216,511 bp from pter
Size:
15,745 bases
Orientation:
Plus strand

Genomic View for MAFF Gene

Genes around MAFF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAFF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAFF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAFF Gene

Proteins for MAFF Gene

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

    Protein Symbol:
    Q9ULX9-MAFF_HUMAN
    Recommended name:
    Transcription factor MafF
    Protein Accession:
    Q9ULX9
    Secondary Accessions:
    • B4DV49
    • Q9Y525

    Protein attributes for MAFF Gene

    Size:
    164 amino acids
    Molecular mass:
    17760 Da
    Quaternary structure:
    • Monomer and homo- or heterodimer. Interacts with MIP.

    Alternative splice isoforms for MAFF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAFF Gene

Proteomics data for MAFF Gene at MOPED

Post-translational modifications for MAFF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MAFF Gene

Domains & Families for MAFF Gene

Gene Families for MAFF Gene

Protein Domains for MAFF Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULX9

UniProtKB/Swiss-Prot:

MAFF_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 MAFF: view

Function for MAFF Gene

Molecular function for MAFF Gene

GENATLAS Biochemistry:
V-maf musculoaponeurotic fibrosarcoma (ovarian) oncogene family protein F, expressed in kidney and in term myometrium where it binds to the oxytocin receptor
UniProtKB/Swiss-Prot Function:
Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response.
UniProtKB/Swiss-Prot Induction:
By oxidative stress.

Gene Ontology (GO) - Molecular Function for MAFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MAFF: view
genes like me logo Genes that share phenotypes with MAFF: view

Animal Models for MAFF Gene

MGI Knock Outs for MAFF:

Animal Model Products

Targeted motifs for MAFF Gene
HOMER Transcription Factor Regulatory Elements motif MAFF
  • Consensus sequence: HWWGTCAGCAWWTTT Submotif: canonical Cell Type: HepG2 GEO ID: GSE31477

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for MAFF Gene

Localization for MAFF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFF Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAFF Gene COMPARTMENTS Subcellular localization image for MAFF gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2

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

Pathways & Interactions for MAFF Gene

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

Pathways by source for MAFF Gene

Gene Ontology (GO) - Biological Process for MAFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007567 parturition TAS 10527846
GO:0045604 regulation of epidermal cell differentiation IEA --
genes like me logo Genes that share ontologies with MAFF: view

No data available for SIGNOR curated interactions for MAFF Gene

Drugs & Compounds for MAFF Gene

(2) Drugs for MAFF Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxytocin Approved Pharma Full agonist, Agonist Involved in uterine contraction and lactation 376
genes like me logo Genes that share compounds with MAFF: view

Transcripts for MAFF Gene

Unigene Clusters for MAFF Gene

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

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1:
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for MAFF Gene

GeneLoc Exon Structure for
MAFF
ECgene alternative splicing isoforms for
MAFF

Expression for MAFF Gene

mRNA expression in normal human tissues for MAFF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAFF Gene

This gene is overexpressed in Breast (32.0) and Placenta (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAFF Gene



SOURCE GeneReport for Unigene cluster for MAFF Gene Hs.517617

mRNA Expression by UniProt/SwissProt for MAFF Gene

Q9ULX9-MAFF_HUMAN
Tissue specificity: Expressed in the term myometrium and kidney.
genes like me logo Genes that share expression patterns with MAFF: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MAFF Gene

Orthologs for MAFF Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAFF 35
  • 95.27 (n)
  • 99.29 (a)
MAFF 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAFF 35
  • 95.71 (n)
  • 99.29 (a)
MAFF 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maff 35
  • 91.24 (n)
  • 94.23 (a)
Maff 16
Maff 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAFF 35
  • 99.8 (n)
  • 99.39 (a)
MAFF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Maff 35
  • 89.96 (n)
  • 94.87 (a)
oppossum
(Monodelphis domestica)
Mammalia MAFF 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAFF 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFF 35
  • 81.32 (n)
  • 85.82 (a)
MAFF 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAFF 36
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc63868 35
maff 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta maf-S 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for MAFF:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MAFF Gene

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

Paralogs for MAFF Gene

Paralogs for MAFF Gene

(5) SIMAP similar genes for MAFF Gene using alignment to 3 proteins:

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

Variants for MAFF Gene

Sequence variations from dbSNP and Humsavar for MAFF Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2235264 -- 38,213,943(+) ATGCA(A/G)AGCCT intron-variant
rs2267372 -- 38,202,227(+) GCGGG(A/G)CCAGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs2267373 -- 38,204,535(+) CCCTG(C/T)CCTCT intron-variant
rs2267374 -- 38,204,588(+) GAGAA(A/T)CAGGA intron-variant
rs2267375 -- 38,205,224(+) GCATA(G/T)TGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834194 CNV Loss 17160897
nsv519015 CNV Loss 19592680
nsv915060 CNV Loss 21882294
esv989237 CNV Deletion 20482838
nsv514970 CNV Complex 21397061

Variation tolerance for MAFF Gene

Gene Damage Index Score: 0.78; 16.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAFF Gene

HapMap Linkage Disequilibrium report
MAFF
Human Gene Mutation Database (HGMD)
MAFF

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

Disorders for MAFF Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAFF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fibrosarcoma
  • fibrocytic tumor
ulnar neuropathy
  • ulnar neuropathy [ambiguous]
placental choriocarcinoma
  • choriocarcinoma of the placenta
- elite association - COSMIC cancer census association via MalaCards
Search MAFF in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAFF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAFF
genes like me logo Genes that share disorders with MAFF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAFF Gene

Publications for MAFF Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 67
  2. Regulation of the MAFF transcription factor by proinflammatory cytokines in myometrial cells. (PMID: 16371591) Massrieh W. … Blank V. (Biol. Reprod. 2006) 3 23
  3. The novel human gene MIP functions as a co-activator of hMafF. (PMID: 16549056) Ye X. … Lu H. (Arch. Biochem. Biophys. 2006) 3 23
  4. Differential induction of mafF, mafG and mafK expression by electrophile-response-element activators. (PMID: 11772409) Moran J.A. … Mulcahy R.T. (Biochem. J. 2002) 3 23
  5. Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation. (PMID: 12490281) Marini M.G. … Moi P. (Blood Cells Mol. Dis. 2002) 3 23

Products for MAFF Gene

Sources for MAFF Gene

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