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Aliases for MAFK Gene

Aliases for MAFK Gene

  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog K 2 3 5
  • Erythroid Transcription Factor NF-E2 P18 Subunit 2 3 4
  • Basic-Leucine Zipper Transcription Factor MafK 2 3
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Family, Protein K 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog K 3
  • Nuclear Factor Erythroid-2, Ubiquitous (P18) 3
  • Nuclear Factor Erythroid-2 2
  • Ubiquitous (P18) 2
  • 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 (V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog K) is a Protein Coding gene. Diseases associated with MAFK include fibrosarcoma. Among its related pathways are Platelet activation, signaling and aggregation 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 MAFA.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAFK Gene

Genomics for MAFK Gene

Regulatory Elements for MAFK Gene

Promoters for MAFK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAFK on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MAFK Gene at MOPED

Post-translational modifications for MAFK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAFK Gene

ENSEMBL proteins:
REFSEQ proteins:

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 :
  • 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 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:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,NAS 9150357
GO:0005515 protein binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0071535 RING-like zinc finger domain binding IEA --
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
Jensen Localization Image for MAFK Gene COMPARTMENTS Subcellular localization image for MAFK gene
Compartment Confidence
nucleus 5

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

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

None

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 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, MOPED, and MaxQB for MAFK Gene



SOURCE GeneReport for Unigene cluster for MAFK Gene Hs.520612

genes like me logo Genes that share expression patterns with MAFK: view

Protein tissue co-expression partners for MAFK Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MAFK 35
  • 91.67 (n)
  • 92.95 (a)
MAFK 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAFK 35
  • 92.31 (n)
  • 95.51 (a)
MAFK 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafk 35
  • 89.74 (n)
  • 98.08 (a)
Mafk 16
Mafk 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mafk 35
  • 91.45 (n)
  • 97.44 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MAFK 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAFK 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFK 35
  • 84.83 (n)
  • 93.59 (a)
MAFK 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAFK 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mafk 35
  • 79.06 (n)
  • 89.74 (a)
zebrafish
(Danio rerio)
Actinopterygii mafk 35
  • 78.14 (n)
  • 84.42 (a)
mafk 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010405 35
  • 61.86 (n)
  • 59.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta maf-S 35
  • 62.89 (n)
  • 55.67 (a)
maf-S 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for MAFK:
  • 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
rs892522 -- 1,539,638(+) GGGCC(A/G)GCTCA intron-variant
rs1055475 -- 1,540,268(+) CCGTG(G/T)CCCGG reference, missense
rs3217410 -- 1,539,540(+) TGGCC(-/AGCGTGGCC)TCTGG intron-variant
rs3824071 -- 1,539,735(+) TTTCC(C/T)GTTCA intron-variant
rs3829898 -- 1,529,575(+) CAAGT(A/G)GGGGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv887128 CNV Loss 21882294
nsv471182 CNV Loss 18288195
dgv2045e1 CNV Complex 17122850
dgv7090n71 CNV Loss 21882294
dgv7093n71 CNV Loss 21882294
dgv7095n71 CNV Loss 21882294
nsv464247 CNV Loss 19166990
dgv7098n71 CNV Loss 21882294
nsv823970 CNV Gain 20364138
dgv7099n71 CNV Loss 21882294
nsv887218 CNV Gain+Loss 21882294
nsv887219 CNV Loss 21882294
dgv7100n71 CNV Loss 21882294
nsv887221 CNV Gain 21882294
nsv830879 CNV Gain+Loss 17160897
nsv830880 CNV Loss 17160897
nsv887223 CNV Loss 21882294
nsv887224 CNV Loss 21882294
dgv7101n71 CNV Loss 21882294
dgv7102n71 CNV Loss 21882294
nsv5615 CNV Loss 18451855
nsv887231 CNV Loss 21882294
nsv887232 CNV Loss 21882294
nsv887233 CNV Loss 21882294
nsv823974 CNV Loss 20364138
nsv482100 CNV Gain 20164927

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

HapMap Linkage Disequilibrium report
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: 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 23 67
  2. Small maf (MafG and MafK) proteins negatively regulate antioxidant response element-mediated expression and antioxidant induction of the NAD(P)H:Quinone oxidoreductase1 gene. (PMID: 11013233) Dhakshinamoorthy S. … Jaiswal A.K. (J. Biol. Chem. 2000) 3 23
  3. 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 23
  4. Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner. (PMID: 8355703) Ney P.A. … Neinhuis A.W. (Mol. Cell. Biol. 1993) 3 23
  5. Poly(ADP-ribose) polymerase-1 modulates Nrf2-dependent transcription. (PMID: 24140708) Wu T. … Zhang D.D. (Free Radic. Biol. Med. 2014) 3

Products for MAFK Gene

Sources for MAFK Gene

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