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 have metal ion binding activity. Involved in 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 |
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 | Length | 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
|
721 |
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