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 have metallocarboxypeptidase activity and transcription corepressor activity. Predicted to be involved in peptide metabolic process and protein processing. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. 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