Gene
dclre1c
- ID
- ZDB-GENE-041210-72
- Name
- DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae)
- Symbol
- dclre1c Nomenclature History
- Previous Names
-
- im:7141637
- si:dkey-153k10.3
- zgc:136877
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have 5'-3' exodeoxyribonuclease activity and damaged DNA binding activity. Predicted to be involved in double-strand break repair via nonhomologous end joining; interstrand cross-link repair; and protection from non-homologous end joining at telomere. Predicted to localize to nonhomologous end joining complex and nuclear chromosome, telomeric region. Human ortholog(s) of this gene implicated in Omenn syndrome; common variable immunodeficiency; severe combined immunodeficiency; and severe combined immunodeficiency with sensitivity to ionizing radiation. Orthologous to human DCLRE1C (DNA cross-link repair 1C).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7141637 (1 image)
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 |
---|---|---|---|
Omenn syndrome | Alliance | Omenn syndrome | 603554 |
severe combined immunodeficiency with sensitivity to ionizing radiation | Alliance | Severe combined immunodeficiency, Athabascan type | 602450 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | DNA repair metallo-beta-lactamase | Metallo-beta-lactamase | Ribonuclease Z/Hydroxyacylglutathione hydrolase-like |
---|---|---|---|---|
UniProtKB:A0A8M9Q5Y8
|
639 | |||
UniProtKB:Q5RGE5
|
639 | |||
UniProtKB:A0A8M9Q5Y6
|
680 | |||
UniProtKB:A0A8M9PHC7
|
379 | |||
UniProtKB:A0A8M6YZK4
|
663 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
dclre1c-201
(1)
|
Ensembl | 2,400 nt | ||
mRNA |
dclre1c-203
(1)
|
Ensembl | 689 nt | ||
ncRNA |
dclre1c-002
(1)
|
Ensembl | 880 nt |
Interactions and Pathways
No data available
Plasmids
No data available