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Gene: LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) Homo sapiens
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Symbol: LRSAM1
Name: leucine rich repeat and sterile alpha motif containing 1
Description: Exhibits ubiquitin protein ligase activity. Involved in several processes, including positive regulation of macroautophagy; protein ubiquitination; and ubiquitin-dependent endocytosis. Localizes to the cytosol and membrane. Implicated in Charcot-Marie-Tooth disease axonal type 2P.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2P; E3 ubiquitin-protein ligase LRSAM1; FLJ31641; leucine-rich repeat and sterile alpha motif-containing protein 1; RIFLE; RING finger leucine repeat rich; RING-type E3 ubiquitin transferase LRSAM1; TAL; Tsg101-associated ligase
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,451,486 - 127,503,501 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,213,765 - 130,265,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,253,613 - 129,305,599 (+)NCBINCBI36hg18NCBI36
Build 349127,293,570 - 127,345,332NCBI
Celera9100,864,640 - 100,916,667 (+)NCBI
Cytogenetic Map9q33.3-q34.11NCBI
HuRef999,829,749 - 99,881,715 (+)NCBIHuRef
CHM1_19130,365,060 - 130,417,083 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on LRSAM1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1343012
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.