Gene

ercc6

ID
ZDB-GENE-070228-1
Name
excision repair cross-complementation group 6
Symbol
ercc6 Nomenclature History
Previous Names
  • CSB (1)
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have DNA-dependent ATPase activity. Involved in cellular response to DNA damage stimulus and response to UV. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Cockayne syndrome; UV-sensitive syndrome; age related macular degeneration 5; lung cancer; and premature ovarian failure. Orthologous to human ERCC6 (ERCC excision repair 6, chromatin remodeling factor).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Wei et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ercc6 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
age related macular degeneration 5 Alliance {Macular degeneration, age-related, susceptibility to, 5} 613761
cerebrooculofacioskeletal syndrome 1 Alliance Cerebrooculofacioskeletal syndrome 1 214150
Cockayne syndrome B Alliance Cockayne syndrome, type B 133540
De Sanctis-Cacchione syndrome Alliance ?De Sanctis-Cacchione syndrome 278800
lung cancer Alliance {Lung cancer, susceptibility to} 211980
primary ovarian insufficiency 11 Alliance Premature ovarian failure 11 616946
UV-sensitive syndrome Alliance UV-sensitive syndrome 1 600630
Associated With ercc6 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000330 SNF2, N-terminal
Domain IPR001650 Helicase, C-terminal domain-like
Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
Domain IPR049730 SNF2/RAD5-like, C-terminal helicase domain
Family IPR050496 SNF2/RAD54 Helicase and DNA Repair
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR038718 SNF2-like, N-terminal domain superfamily
Domain Details Per Protein
Protein Length Helicase, C-terminal domain-like Helicase superfamily 1/2, ATP-binding domain P-loop containing nucleoside triphosphate hydrolase SNF2-like, N-terminal domain superfamily SNF2, N-terminal SNF2/RAD54 Helicase and DNA Repair SNF2/RAD5-like, C-terminal helicase domain
UniProtKB:A0A8M6Z974 1390
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA ercc6-201 (1) Ensembl 2,915 nt
mRNA ercc6-202 (1) Ensembl 4,313 nt
mRNA ercc6-203 (1) Ensembl 2,783 nt
mRNA ercc6-204 (1) Ensembl 2,260 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations