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

Aliases for MAFB Gene

Aliases for MAFB Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog B 2 3
  • KRML 3 4 6
  • MCTO 3 6
  • MAFB/Kreisler Basic Region/Leucine Zipper Transcription Factor 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B 4
  • Kreisler (Mouse) Maf-Related Leucine Zipper Homolog 2
  • Kreisler Maf-Related Leucine Zipper Homolog 3
  • Transcription Factor MafB 3
  • Maf-B 4

External Ids for MAFB Gene

Previous HGNC Symbols for MAFB Gene

  • KRML

Previous GeneCards Identifiers for MAFB Gene

  • GC20M039043
  • GC20M039952
  • GC20M039999
  • GC20M038747
  • GC20M039314
  • GC20M036052

Summaries for MAFB Gene

Entrez Gene Summary for MAFB Gene

  • The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAFB Gene

MAFB (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog B) is a Protein Coding gene. Diseases associated with MAFB include multicentric carpotarsal osteolysis syndrome and multicentric osteolysis nephropathy. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is MAFA.

UniProtKB/Swiss-Prot for MAFB Gene

  • Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.

Gene Wiki entry for MAFB Gene

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

Genomics for MAFB Gene

Regulatory Elements for MAFB Gene

Epigenetics Products

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

Genomic Location for MAFB Gene

Start:
40,685,848 bp from pter
End:
40,689,240 bp from pter
Size:
3,393 bases
Orientation:
Minus strand

Genomic View for MAFB Gene

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

RefSeq DNA sequence for MAFB Gene

Proteins for MAFB Gene

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

    Protein Symbol:
    Q9Y5Q3-MAFB_HUMAN
    Recommended name:
    Transcription factor MafB
    Protein Accession:
    Q9Y5Q3
    Secondary Accessions:
    • B3KNE1
    • Q9H1F1

    Protein attributes for MAFB Gene

    Size:
    323 amino acids
    Molecular mass:
    35792 Da
    Quaternary structure:
    • Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or a heterodimer. Forms homodimers and heterodimers with FOS, FOSB and FOSL2, but not with JUN proteins (JUN, JUNB and JUND). Interacts with PAX6; the interaction is direct. Interacts with ETS1 and LRP1 (By similarity). Interacts with the intracellular cytoplasmic domain of LRP1 (LRPICD); the interaction results in a moderate reduction of MAFB transcriptional potential.

neXtProt entry for MAFB Gene

Proteomics data for MAFB Gene at MOPED

Post-translational modifications for MAFB Gene

  • Phosphorylated by GSK3 and MAPK13 on serine and threonine residues.
  • Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAFB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MAFB Gene

Domains for MAFB Gene

Suggested Antigen Peptide Sequences for MAFB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5Q3

UniProtKB/Swiss-Prot:

MAFB_HUMAN :
  • Q9Y5Q3
Domain:
  • The leucine-zipper domain is involved in the interaction with LRPICD
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. Maf subfamily.
genes like me logo Genes that share domains with MAFB: view

No data available for Gene Families for MAFB Gene

Function for MAFB Gene

Molecular function for MAFB Gene

UniProtKB/Swiss-Prot Function: Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.

Gene Ontology (GO) - Molecular Function for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 10698492
GO:0008134 transcription factor binding IDA 10698492
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with MAFB: view
genes like me logo Genes that share phenotypes with MAFB: view

Animal Models for MAFB Gene

MGI Knock Outs for MAFB:

Animal Model Products

CRISPR Products

miRNA for MAFB Gene

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

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

Localization for MAFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFB Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with MAFB: view

Pathways for MAFB Gene

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

Pathways by source for MAFB Gene

1 PharmGKB pathway for MAFB Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0007379 segment specification IEA --
GO:0007423 sensory organ development TAS 8001130
genes like me logo Genes that share ontologies with MAFB: view

Transcripts for MAFB Gene

mRNA/cDNA for MAFB Gene

(178) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAFB Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MAFB Gene

GeneLoc Exon Structure for
MAFB
ECgene alternative splicing isoforms for
MAFB

Expression for MAFB Gene

mRNA expression in normal human tissues for MAFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAFB Gene

This gene is overexpressed in Spleen (6.4) and Skin - Sun Exposed (Lower leg) (4.5).

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

SOURCE GeneReport for Unigene cluster for MAFB Gene Hs.169487

mRNA Expression by UniProt/SwissProt for MAFB Gene

Q9Y5Q3-MAFB_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with MAFB: view

In Situ Assay Products

Orthologs for MAFB Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAFB 35
  • 99.9 (n)
  • 99.69 (a)
MAFB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAFB 35
  • 94.53 (n)
  • 98.14 (a)
MAFB 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAFB 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafb 35
  • 92.88 (n)
  • 97.21 (a)
Mafb 16
Mafb 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAFB 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mafb 35
  • 93.09 (n)
  • 97.83 (a)
chicken
(Gallus gallus)
Aves MAFB 35
  • 81.45 (n)
  • 84.14 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24839 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mafb 35
  • 75.9 (n)
  • 75.9 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10331 35
zebrafish
(Danio rerio)
Actinopterygii mafba 36
  • 63 (a)
OneToMany
mafbb 36
  • 49 (a)
OneToMany
val 35
fruit fly
(Drosophila melanogaster)
Insecta tj 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
ManyToMany
Species with no ortholog for MAFB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 MAFB Gene

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

Paralogs for MAFB Gene

Paralogs for MAFB Gene

Selected SIMAP similar genes for MAFB Gene using alignment to 2 proteins:

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

Variants for MAFB Gene

Sequence variations from dbSNP and Humsavar for MAFB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs3577 -- 40,686,030(+) GTTGC(A/G)GCAGG utr-variant-3-prime
rs2425416 -- 40,685,433(+) GGCCC(A/G)GGTCA downstream-variant-500B
rs3215567 -- 40,686,287(-) TTTTT(-/T)CTGCA utr-variant-3-prime
rs6029274 -- 40,688,136(+) CTTCA(A/C/G)GCGGA reference, missense, synonymous-codon
rs6029275 -- 40,690,545(+) AGGGC(C/T)ACCGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv833978 CNV Gain 17160897

Relevant External Links for MAFB Gene

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

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

Disorders for MAFB Gene

(1) OMIM Diseases for MAFB Gene (608968)

UniProtKB/Swiss-Prot

MAFB_HUMAN
  • Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. {ECO:0000269 PubMed:22387013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MAFB Gene

Relevant External Links for MAFB

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

Publications for MAFB Gene

  1. Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (PMID: 10444328) Wang P.W. … Le Beau M.M. (Genomics 1999) 2 3 4 23
  2. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C. … Gregersen P.K. (Mol. Med. 2008) 3 23 48
  3. The vitamin D3/Hox-A10 pathway supports MafB function during the monocyte differentiation of human CD34+ hemopoietic progenitors. (PMID: 18832725) Gemelli C. … Ferrari S. (J. Immunol. 2008) 3 23
  4. Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate. (PMID: 15598817) Bakri Y. … Sieweke M.H. (Blood 2005) 3 23
  5. Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells. (PMID: 16456583) Gemelli C. … Ferrari S. (Cell Death Differ. 2006) 3 23

Products for MAFB Gene

Sources for MAFB Gene

Back to Top

Content