Gene
dnajc5aa
- ID
- ZDB-GENE-031113-20
- Name
- DnaJ (Hsp40) homolog, subfamily C, member 5aa
- Symbol
- dnajc5aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 4B. Is expressed in nervous system and neural tube. Orthologous to human DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb995 (6 images)
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 |
|---|---|---|---|
| neuronal ceroid lipofuscinosis 4 | Alliance | Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant | 162350 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Chaperone J-domain superfamily | DnaJ domain | DnaJ domain, conserved site | DnaJ homolog subfamily C member 5 |
|---|---|---|---|---|---|
|
UniProtKB:Q6DGJ0
|
202 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dnajc5aa-201
(1)
|
Ensembl | 1,019 nt | ||
| mRNA |
dnajc5aa-202
(1)
|
Ensembl | 628 nt |
Interactions and Pathways
No data available
Plasmids
No data available