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Lrsam1
Gene Detail
 Symbol
Name
ID
Lrsam1
leucine rich repeat and sterile alpha motif containing 1
MGI:2684789
Synonyms MGC:56830
Feature Type protein coding gene
Genetic Map
Chromosome 2
22.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:32925220-32961614 bp, - strand
From VEGA annotation of GRCm38

  36395 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:44526  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Lrsam1

Human
homologs
Human Homolog LRSAM1, leucine rich repeat and sterile alpha motif containing 1
NCBI Gene ID 90678
neXtProt AC  NX_Q6UWE0
Human Synonyms  CMT2P, RIFLE, TAL
Human Chr (Location)  9q33.3; chr9:127451486-127503501 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human LRSAM1
Mutations,
alleles, and
phenotypes
All mutations/alleles(23) : Gene trapped(20) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice.
 
Human Diseases Modeled Using Mouse Lrsam1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Lrsam1 interacts with 180 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process negative regulation of endocytosis, protein autoubiquitination, ...
Component cytoplasm, membrane
Function coenzyme F420-0 gamma-glutamyl ligase activity, coenzyme F420-2 alpha-glutamyl ligase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (47)    Tissues (8)    Images (19)
Theiler Stages: 23
Assay TypeResults
RNA in situ 47
cDNA source data(42)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(42) cDNA(42)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000012573 (Evidence)
Ensembl Gene ModelENSMUSG00000026792 (Evidence)
Entrez Gene227738 (Evidence)
UniGene248037
DFCITC1581667
DoTSDT.101377631
NIA Mouse Gene IndexU022513
EC6.3.2.-
Consensus CDS ProjectCCDS15935.1
International Mouse Knockout Project StatusLrsam1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012573 VEGA Gene Model | MGI Sequence Detail 36395 C57BL/6J ±  kb
transcript OTTMUST00000029945 VEGA | MGI Sequence Detail 4030 Not Applicable 
polypeptide OTTMUSP00000013464 VEGA | MGI Sequence Detail 727 Not Applicable 

For the selected sequences
All sequences(72) RefSeq(25) UniProt(6)
Polymorphisms SNPs within 2kb(166 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001611 Leucine-rich repeat
InterPro IPR025875 Leucine rich repeat 4
InterPro IPR003591 Leucine-rich repeat, typical subtype
InterPro IPR001660 Sterile alpha motif domain
InterPro IPR013761 Sterile alpha motif/pointed domain
InterPro IPR011510 Sterile alpha motif, type 2
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000009950 E3 ubiquitin-protein ligase LRSAM1
References (Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:196447 Bogdanik LP, et al., Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease. Dis Model Mech. 2013 May-Jun;6(3):780-92
All references(37)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory