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The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
MAF (MAF BZIP Transcription Factor) is a Protein Coding gene. Diseases associated with MAF include Ayme-Gripp Syndrome and Cataract 21, Multiple Types. Among its related pathways are Transcriptional misregulation in cancer and C-MYB transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is MAFA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | TAS | 9616139 |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001816 | cytokine production | IEA | -- |
GO:0002088 | lens development in camera-type eye | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 9616139 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Deoxyuridine-5'-Triphosphate | Experimental | Pharma | Target | 0 |
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 |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAF 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Maf 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAF 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Maf 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAF 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAF 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAF 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAF 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.15477 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | maf 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | tj 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | maf-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645483 | Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 1 | 79,211,735(-) | G/A | MISSENSE_VARIANT | |
655246 | Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 1 | 79,211,669(-) | G/T | MISSENSE_VARIANT | |
661599 | Uncertain Significance: Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 1 | 79,211,701(-) | C/T | MISSENSE_VARIANT | |
664291 | Pathogenic: Ayme-gripp syndrome; Cataract 21, multiple types | 79,599,022(-) | C/T | MISSENSE_VARIANT | |
668843 | Benign: not provided | 79,211,342(-) | T/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
ayme-gripp syndrome |
|
|
cataract 21, multiple types |
|
|
cerulean cataract |
|
|
cataract microcornea syndrome |
|
|
cataract 30, multiple types |
|
|