Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAFF Gene

Aliases for MAFF Gene

  • MAF BZIP Transcription Factor F 2 3 5
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog F 2 3
  • U-MAF 3 4
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Family Protein F 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog F 4
  • Transcription Factor MafF 3
  • 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 (MAF BZIP Transcription Factor F) is a Protein Coding gene. Diseases associated with MAFF include Fibrosarcoma and Ulnar Neuropathy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and NRF2 pathway. 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 MAFK.

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

Additional gene information for MAFF Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H038174 1.8 FANTOM5 ENCODE dbSUPER 36.7 -22.0 -21959 8 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC MEF2D DDX17 MAFF ENSG00000228274 CSNK1E ANKRD54 CBY1 ENSG00000230912 PLA2G6 TMEM184B TRIOBP
GH22H038171 1.7 FANTOM5 Ensembl ENCODE dbSUPER 26.6 -27.9 -27917 2 ELF3 PKNOX1 ARID4B RAD21 RARA YY1 ATF7 THAP11 SP5 CEBPB MAFF PLA2G6 BAIAP2L2 TMEM184B GCAT GC22P038194 ENSG00000279080
GH22H038147 1.3 FANTOM5 Ensembl ENCODE 20.8 -52.7 -52725 1 JUN ZMYM3 MAX RAD21 YY1 EED FOS ETV6 RUNX3 SOX6 PLA2G6 TMEM184B MAFF BAIAP2L2 DDX17 ENSG00000279080 GC22P038194
GH22H038227 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +28.8 28772 4 SOX13 CTCF TFAP4 KLF1 FOXA2 SAP130 JUN MAX RAD21 ZFHX2 TMEM184B MAFF PICK1 GTPBP1 JOSD1 CSNK1E ENSG00000235246 GC22P038220
GH22H038309 1.7 FANTOM5 ENCODE dbSUPER 10.8 +113.5 113470 11 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS TMEM184B PICK1 MAFF KCNJ4 KDELR3 POLR2F SOX10 PDXP GGA1 SUN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAFF on UCSC Golden Path with GeneCards custom track

Promoters for MAFF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146141 1833 2001 ARNT ZFP64 ARID4B SIN3A FOS SP3 REST MIER3 ZNF610 ZNF585B

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

Post-translational modifications for MAFF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAFF Gene

Domains & Families for MAFF Gene

Gene Families for MAFF Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MAFF Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULX9

UniProtKB/Swiss-Prot:

MAFF_HUMAN :
  • Belongs to the bZIP family. Maf subfamily.
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.

Phenotypes From GWAS Catalog for MAFF Gene

Gene Ontology (GO) - Molecular Function for MAFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IC --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0043565 sequence-specific DNA binding IDA 23332764
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

CRISPR Products

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAFF gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with MAFF: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 10527846
GO:0007567 parturition TAS 10527846
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, Vet_approved Pharma Full agonist, Agonist Involved in uterine contraction and lactation 459
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAFF Gene



NURSA nuclear receptor signaling pathways regulating expression of MAFF Gene:

MAFF

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.

Evidence on tissue expression from TISSUES for MAFF Gene

  • Muscle(4.4)
  • Intestine(4.2)
  • Skin(4.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with MAFF: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAFF 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia MAFF 33 34
  • 95.71 (n)
cow
(Bos Taurus)
Mammalia MAFF 33 34
  • 95.27 (n)
mouse
(Mus musculus)
Mammalia Maff 33 16 34
  • 91.24 (n)
rat
(Rattus norvegicus)
Mammalia Maff 33
  • 89.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MAFF 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAFF 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFF 33 34
  • 81.32 (n)
lizard
(Anolis carolinensis)
Reptilia MAFF 34
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii maff 34
  • 58 (a)
OneToOne
zgc63868 33
fruit fly
(Drosophila melanogaster)
Insecta maf-S 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for MAFF was found in the sources mined by GeneCards:
  • 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
rs1000073683 -- 38,201,968(+) TTTAT(C/G/T)AATGA upstream-variant-2KB, utr-variant-5-prime
rs1000203848 -- 38,211,328(+) TTCAA(A/G)CGATT intron-variant
rs1000417023 -- 38,201,815(+) CCCAG(A/C)GAGCC upstream-variant-2KB
rs1000593906 -- 38,212,698(+) CCCCA(A/G)GAGGT intron-variant
rs1000659085 -- 38,211,085(+) AAAAA(C/T)GCCAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv989237 CNV deletion 20482838
nsv514970 CNV gain 21397061
nsv519015 CNV loss 19592680
nsv834194 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
MAFF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, 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 novel human gene MIP functions as a co-activator of hMafF. (PMID: 16549056) Ye X … Lu H (Archives of biochemistry and biophysics 2006) 3 4 22 60
  2. Differential induction of mafF, mafG and mafK expression by electrophile-response-element activators. (PMID: 11772409) Moran JA … Mulcahy RT (The Biochemical journal 2002) 3 4 22 60
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 60
  4. Molecular cloning of a human MafF homologue, which specifically binds to the oxytocin receptor gene in term myometrium. (PMID: 10527846) Kimura T … Murata Y (Biochemical and biophysical research communications 1999) 3 4 22 60
  5. Regulation of the MAFF transcription factor by proinflammatory cytokines in myometrial cells. (PMID: 16371591) Massrieh W … Blank V (Biology of reproduction 2006) 3 22 60

Products for MAFF Gene

Sources for MAFF Gene

Content
Loading form....