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

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With lrsam1 Human Ortholog

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

Associated With lrsam1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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