Gene
aebp1b
- ID
- ZDB-GENE-030131-8546
- Name
- AE binding protein 1b
- Symbol
- aebp1b Nomenclature History
- Previous Names
-
- fb14g01
- si:ch1073-459j12.1
- wu:fb14g01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within proteolysis. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome classic-like 2. Orthologous to human AEBP1 (AE binding protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Ehlers-Danlos syndrome classic-like 2 | Alliance | Ehlers-Danlos syndrome, classic-like, 2 | 618000 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000421 | Coagulation factor 5/8, C-terminal domain |
| Domain | IPR000834 | Peptidase M14, carboxypeptidase A |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Family | IPR050753 | Peptidase M14 domain-containing protein |
| Homologous_superfamily | IPR008969 | Carboxypeptidase-like, regulatory domain superfamily |
| Homologous_superfamily | IPR008979 | Galactose-binding-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Carboxypeptidase-like, regulatory domain superfamily | Coagulation factor 5/8, C-terminal domain | Galactose-binding-like domain superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Peptidase M14, carboxypeptidase A | Peptidase M14 domain-containing protein |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BFA8
|
1246 | ||||||||||
|
UniProtKB:F1RAC0
|
1247 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch1073-459j12.1-201
(1)
|
Ensembl | 3,007 nt | ||
| mRNA |
si:ch1073-459j12.1-202
(1)
|
Ensembl | 3,966 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance