Gene
otulina
- ID
- ZDB-GENE-040426-2157
- Name
- OTU deubiquitinase with linear linkage specificity a
- Symbol
- otulina Nomenclature History
- Previous Names
-
- fam105ba
- wu:fj43e01
- zgc:64095
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein linear deubiquitination. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in alar plate midbrain region; lens; optic tectum; retina; and solid lens vesicle. Human ortholog(s) of this gene implicated in otulipenia and primary immunodeficiency disease. Orthologous to several human genes including OTULIN (OTU deubiquitinase with linear linkage specificity).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64095 (4 images)
- IMAGE:6909406 (5 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Cheung et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
otulipenia | Alliance | Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | 617099 |
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant | 621030 | ||
{Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} | 619986 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Essential protein Yae1, N-terminal | Yae1-like |
---|---|---|---|
UniProtKB:Q7T354
|
220 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
aberrant processed transcript |
otulina-205
(1)
|
Ensembl | 931 nt | ||
mRNA |
otulina-201
(1)
|
Ensembl | 1,268 nt | ||
mRNA |
otulina-202
(1)
|
Ensembl | 535 nt | ||
mRNA |
otulina-204
(1)
|
Ensembl | 3,081 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance