Gene
mafa
- ID
- ZDB-GENE-010605-2
- Name
- MAF bZIP transcription factor a
- Symbol
- mafa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Ayme-Gripp syndrome; cataract; and cataract 21 multiple types. Is expressed in pronephric mesoderm; pronephric proximal convoluted tubule; pronephric proximal straight tubule; and solid lens vesicle. Orthologous to human MAF (MAF bZIP transcription factor).
- Genome Resources
- Note
-
This gene, the ortholog and one of the zebrafish genome duplicates of the human MAF gene, has the same gene symbol as a different human gene (MAFA). This zebrafish mafa gene is not the ortholog of human MAFA. The identical gene symbol for non-orthologous genes is due to the genome duplicate naming conventions of the zebrafish nomenclature guidelines. The zebrafish ortholog of the human MAFA gene is mafaa (ZDB-GENE-010605-3).
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ayme-Gripp syndrome | Alliance | Ayme-Gripp syndrome | 601088 |
| cataract 21 multiple types | Alliance | Cataract 21, multiple types | 610202 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004826 | Basic leucine zipper domain, Maf-type |
| Domain | IPR004827 | Basic-leucine zipper domain |
| Domain | IPR013592 | Maf transcription factor, N-terminal |
| Family | IPR024874 | Transcription factor Maf family |
| Homologous_superfamily | IPR008917 | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
| Homologous_superfamily | IPR046347 | Basic-leucine zipper domain superfamily |
Domain Details Per Protein
| Protein | Length | Basic-leucine zipper domain | Basic leucine zipper domain, Maf-type | Basic-leucine zipper domain superfamily | Maf transcription factor, N-terminal | Transcription factor Maf family | Transcription factor, Skn-1-like, DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9P0X6
|
333 | ||||||
|
UniProtKB:Q6NZW9
|
325 |
Interactions and Pathways
No data available
Plasmids
No data available