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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]
MAFK (MAF BZIP Transcription Factor K) is a Protein Coding gene. Diseases associated with MAFK include Fibrosarcoma and Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is MAFG.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001221 | transcription cofactor binding | IEA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 9150357 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tacrolimus/Cyclosporine Pathway, Pharmacodynamics | ||
2 | Factors involved in megakaryocyte development and platelet production | ||
3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 9150357 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0007596 | blood coagulation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Isoniazid | Approved, Investigational | Pharma | 215 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | MAFK 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAFK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAFK 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mafk 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mafk 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAFK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAFK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAFK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mafk 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mafk 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | maf-S 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010405 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | maf-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fibrosarcoma |
|
|
autosomal dominant adult-onset proximal spinal muscular atrophy |
|
|
ayme-gripp syndrome |
|
|