Gene
lrsam1
- ID
- ZDB-GENE-060526-97
- Name
- leucine rich repeat and sterile alpha motif containing 1
- Symbol
- lrsam1 Nomenclature History
- Previous Names
-
- si:ch211-208h16.3
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Acts upstream of or within hematopoietic stem cell differentiation and neuron development. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2P. Orthologous to human LRSAM1 (leucine rich repeat and sterile alpha motif containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Charcot-Marie-Tooth disease axonal type 2P | Alliance | Charcot-Marie-Tooth disease, axonal, type 2P | 614436 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001660 | Sterile alpha motif domain |
Domain | IPR001841 | Zinc finger, RING-type |
Domain | IPR055414 | Disease resistance R13L4/SHOC-2-like, LRR domain |
Family | IPR050216 | Leucine-rich repeat domain-containing protein |
Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
Repeat | IPR001611 | Leucine-rich repeat |
Repeat | IPR003591 | Leucine-rich repeat, typical subtype |
Domain Details Per Protein
Protein | Additional Resources | Length | Disease resistance R13L4/SHOC-2-like, LRR domain | Leucine-rich repeat | Leucine-rich repeat domain-containing protein | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M1NF66 | InterPro | 721 | |||||||||
UniProtKB:A0AB32TRZ3 | InterPro | 694 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
lrsam1-201
(1)
|
Ensembl | 2,166 nt |
Interactions and Pathways
No data available
Plasmids
No data available