Gene
cep55l
- ID
- ZDB-GENE-050522-222
- Name
- centrosomal protein 55 like
- Symbol
- cep55l Nomenclature History
- Previous Names
-
- cep55 (1)
- zgc:112184
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Involved in cerebellum development; cranial skeletal system development; and regulation of intracellular signal transduction. Predicted to localize to midbody. Used to study hydranencephaly. Human ortholog(s) of this gene implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. Is expressed in several structures, including caudal fin; integument; nervous system; pleuroperitoneal region; and proliferative region. Orthologous to human CEP55 (centrosomal protein 55).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112184 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly | Alliance | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | 236500 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Centrosomal protein of 55kDa | TSG101 and ALIX binding domain of CEP55 |
|---|---|---|---|
|
UniProtKB:Q502I3
|
435 | ||
|
UniProtKB:A0A8M2B241
|
434 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
cep55l-201
(1)
|
Havana | 2200 nt |
Interactions and Pathways
No data available
Plasmids
No data available