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Aliases for MAFK Gene

Aliases for MAFK Gene

  • MAF BZIP Transcription Factor K 2 3 5
  • Erythroid Transcription Factor NF-E2 P18 Subunit 2 3 4
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog K 2 3
  • Basic-Leucine Zipper Transcription Factor MafK 2 3
  • Nuclear Factor Erythroid-2, Ubiquitous (P18) 2 3
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Family, Protein K 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog K 3
  • Transcription Factor MafK 3
  • NFE2U 3
  • P18 3

External Ids for MAFK Gene

Previous GeneCards Identifiers for MAFK Gene

  • GC07P001214
  • GC07P001314
  • GC07P001343
  • GC07P001536
  • GC07P001570

Summaries for MAFK Gene

Entrez Gene Summary for MAFK Gene

  • The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]

GeneCards Summary for MAFK Gene

MAFK (MAF BZIP Transcription Factor K) is a Protein Coding gene. Diseases associated with MAFK include Fibrosarcoma. 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 transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is MAFG.

UniProtKB/Swiss-Prot for MAFK Gene

  • Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor.

Gene Wiki entry for MAFK Gene

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

Genomics for MAFK Gene

Regulatory Elements for MAFK Gene

Enhancers for MAFK 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
GH07G001529 1.8 FANTOM5 ENCODE dbSUPER 13.4 +4.1 4099 10.5 CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC INTS1 TMEM184A MAFK ADAP1 ZFAND2A PSMG3-AS1 LOC100128653
GH07G001512 2 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -15.4 -15404 6.2 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 FOS INTS1 TMEM184A MAFK MICALL2 ZFAND2A ENSG00000231927
GH07G001579 1.1 Ensembl ENCODE 12.3 +48.9 48887 0.4 RB1 ZSCAN4 WRNIP1 ARID4B KLF17 ZNF48 ZBTB40 RAD21 ZNF366 ZNF143 MAFK PSMG3 LOC105375122
GH07G001575 1 FANTOM5 ENCODE 13.2 +46.0 46000 2.0 BCOR ESRRA CBX3 TEAD4 MAX ZMYM3 YBX1 CHD7 CTBP1 ZNF366 MAFK ENSG00000231927 INTS1 PSMG3-AS1 ELFN1 PSMG3 LOC105375122
GH07G001950 1.4 FANTOM5 Ensembl ENCODE 7.5 +420.6 420640 1.1 HDAC1 ESRRA KLF1 ETV1 ZNF175 MAX ELK1 POLR2A ZNF584 EGR2 MRM2 MAFK SNX8 GC07P001949 GC07M001985
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAFK on UCSC Golden Path with GeneCards custom track

Promoters for MAFK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000207622 386 1801 HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Genomic Location for MAFK Gene

Chromosome:
7
Start:
1,530,714 bp from pter
End:
1,543,043 bp from pter
Size:
12,330 bases
Orientation:
Plus strand

Genomic View for MAFK Gene

Genes around MAFK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MAFK Gene

Proteins for MAFK Gene

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

    Protein Symbol:
    O60675-MAFK_HUMAN
    Recommended name:
    Transcription factor MafK
    Protein Accession:
    O60675
    Secondary Accessions:
    • A4D214

    Protein attributes for MAFK Gene

    Size:
    156 amino acids
    Molecular mass:
    17523 Da
    Quaternary structure:
    • Homodimer or heterodimer. It can form high affinity heterodimers with members of the CNC-bZIP family such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3.

neXtProt entry for MAFK Gene

Post-translational modifications for MAFK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAFK Gene

No data available for DME Specific Peptides for MAFK Gene

Domains & Families for MAFK Gene

Gene Families for MAFK Gene

Protein Domains for MAFK Gene

Graphical View of Domain Structure for InterPro Entry

O60675

UniProtKB/Swiss-Prot:

MAFK_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 MAFK: view

Function for MAFK Gene

Molecular function for MAFK Gene

GENATLAS Biochemistry:
small MAF protein K,interacting with BACH1,heterodimerizing with NFE2 to form an erythroid and megakaryocytic cell specific transcription factor,also expressed in neurones from an alternative promoter at least in mouse,homolog to v-maf fibrosarcoma (avian) oncogene
UniProtKB/Swiss-Prot Function:
Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor.

Gene Ontology (GO) - Molecular Function for MAFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0001221 transcription cofactor binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS,IEA --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with MAFK: view
genes like me logo Genes that share phenotypes with MAFK: view

Animal Models for MAFK Gene

MGI Knock Outs for MAFK:

Animal Model Products

Targeted motifs for MAFK Gene
HOMER Transcription Factor Regulatory Elements motif MAFK
  • Consensus sequence: GCTGASTCAGCA Submotif: canonical Cell Type: C2C12 GEO ID: GSE36030

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

Localization for MAFK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFK 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 MAFK gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for MAFK Gene

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

Pathways & Interactions for MAFK Gene

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

Pathways by source for MAFK Gene

Gene Ontology (GO) - Biological Process for MAFK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007399 nervous system development IEA --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with MAFK: view

No data available for SIGNOR curated interactions for MAFK Gene

Drugs & Compounds for MAFK Gene

(1) Drugs for MAFK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MAFK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAFK: view

Transcripts for MAFK Gene

Unigene Clusters for MAFK Gene

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

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

No ASD Table

Relevant External Links for MAFK Gene

GeneLoc Exon Structure for
MAFK
ECgene alternative splicing isoforms for
MAFK

Expression for MAFK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAFK Gene

Protein differential expression in normal tissues from HIPED for MAFK Gene

This gene is overexpressed in Placenta (42.8), Lung (10.9), and NK cells (6.1).

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



Protein tissue co-expression partners for MAFK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAFK Gene:

MAFK

SOURCE GeneReport for Unigene cluster for MAFK Gene:

Hs.520612

Evidence on tissue expression from TISSUES for MAFK Gene

  • Lung(2.5)
genes like me logo Genes that share expression patterns with MAFK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAFK Gene

Orthologs for MAFK Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFK Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia MAFK 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAFK 34 35
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia MAFK 34 35
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Mafk 34
  • 91.45 (n)
mouse
(Mus musculus)
Mammalia Mafk 34 16 35
  • 89.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAFK 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFK 34 35
  • 84.83 (n)
lizard
(Anolis carolinensis)
Reptilia MAFK 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mafk 34
  • 79.06 (n)
zebrafish
(Danio rerio)
Actinopterygii mafk 34 35
  • 78.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta maf-S 34 35
  • 62.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010405 34
  • 61.86 (n)
worm
(Caenorhabditis elegans)
Secernentea maf-1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for MAFK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MAFK Gene

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

Paralogs for MAFK Gene

Paralogs for MAFK Gene

(18) SIMAP similar genes for MAFK Gene using alignment to 4 proteins:

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

Variants for MAFK Gene

Sequence variations from dbSNP and Humsavar for MAFK Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000144443 -- 1,540,571(+) CTGCA(C/T)GCCGG downstream-variant-500B, utr-variant-3-prime
rs1000186244 -- 1,533,257(+) TTGGG(G/T)TGGAG intron-variant, nc-transcript-variant
rs1000260687 -- 1,540,975(+) GGGCA(C/T)GGTGT utr-variant-3-prime
rs1000587956 -- 1,533,982(+) GCTCT(C/G)TGCTG intron-variant, nc-transcript-variant
rs1000689717 -- 1,534,169(+) GTGCC(C/T)CCCGC intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv11135n54 CNV loss 21841781
dgv11136n54 CNV loss 21841781
esv2759499 CNV loss 17122850
esv3891010 CNV loss 25118596
nsv1017606 CNV loss 25217958
nsv1112920 CNV deletion 24896259
nsv1145122 CNV deletion 24896259
nsv464247 CNV loss 19166990
nsv471182 CNV loss 18288195
nsv482100 CNV gain 20164927
nsv5615 CNV deletion 18451855
nsv605819 CNV loss 21841781
nsv605820 CNV loss 21841781
nsv823970 CNV gain 20364138
nsv823974 CNV loss 20364138
nsv830879 CNV gain+loss 17160897
nsv830880 CNV loss 17160897
nsv950786 CNV deletion 24416366

Variation tolerance for MAFK Gene

Gene Damage Index Score: 0.80; 16.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAFK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAFK

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

Disorders for MAFK Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAFK Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fibrosarcoma
  • fibrocytic tumor
- elite association - COSMIC cancer census association via MalaCards
Search MAFK in MalaCards View complete list of genes associated with diseases

Relevant External Links for MAFK

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

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

Publications for MAFK Gene

  1. Structure and chromosome mapping of the human small maf-genes MAFG and MAFK. (PMID: 9763667) Iwata T. … Ito E. (Cytogenet. Cell Genet. 1998) 2 3 22 64
  2. Human small Maf proteins form heterodimers with CNC family transcription factors and recognize the NF-E2 motif. (PMID: 9150357) Toki T. … Ito E. (Oncogene 1997) 3 4 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for MAFK Gene

Sources for MAFK Gene

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