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LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)

Identity

Alias_symbol (synonym)FLJ31641
CMT2P
Other aliasRIFLE
TAL
HGNC (Hugo) LRSAM1
LocusID (NCBI) 90678
Atlas_Id 68675
Location 9q33.3  [Link to chromosome band 9q33]
Location_base_pair Starts at 127451486 and ends at 127503501 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LRSAM1 (9q33.3) / DENND1A (9q33.3)LRSAM1 (9q33.3) / GARNL3 (9q33.3)LRSAM1 (9q33.3) / PER2 (2q37.3)
LRSAM1 DENND1ALRSAM1 GARNL3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LRSAM1   25135
LRG (Locus Reference Genomic)LRG_373
Cards
Entrez_Gene (NCBI)LRSAM1  90678  leucine rich repeat and sterile alpha motif containing 1
AliasesCMT2P; RIFLE; TAL
GeneCards (Weizmann)LRSAM1
Ensembl hg19 (Hinxton)ENSG00000148356 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148356 [Gene_View]  ENSG00000148356 [Sequence]  chr9:127451486-127503501 [Contig_View]  LRSAM1 [Vega]
ICGC DataPortalENSG00000148356
TCGA cBioPortalLRSAM1
AceView (NCBI)LRSAM1
Genatlas (Paris)LRSAM1
WikiGenes90678
SOURCE (Princeton)LRSAM1
Genetics Home Reference (NIH)LRSAM1
Genomic and cartography
GoldenPath hg38 (UCSC)LRSAM1  -     chr9:127451486-127503501 +  9q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRSAM1  -     9q33.3   [Description]    (hg19-Feb_2009)
GoldenPathLRSAM1 - 9q33.3 [CytoView hg19]  LRSAM1 - 9q33.3 [CytoView hg38]
ImmunoBaseENSG00000148356
Mapping of homologs : NCBILRSAM1 [Mapview hg19]  LRSAM1 [Mapview hg38]
OMIM610933   614436   
Gene and transcription
Genbank (Entrez)AF086398 AI364608 AK056203 AK056305 AK091589
RefSeq transcript (Entrez)NM_001005373 NM_001005374 NM_001190723 NM_138361
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRSAM1
Cluster EST : UnigeneHs.495188 [ NCBI ]
CGAP (NCI)Hs.495188
Alternative Splicing GalleryENSG00000148356
Gene ExpressionLRSAM1 [ NCBI-GEO ]   LRSAM1 [ EBI - ARRAY_EXPRESS ]   LRSAM1 [ SEEK ]   LRSAM1 [ MEM ]
Gene Expression Viewer (FireBrowse)LRSAM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90678
GTEX Portal (Tissue expression)LRSAM1
Human Protein AtlasENSG00000148356-LRSAM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UWE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UWE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UWE0
Splice isoforms : SwissVarQ6UWE0
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ6UWE0
Domaine pattern : Prosite (Expaxy)LRR (PS51450)    SAM_DOMAIN (PS50105)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    LRR_dom_sf    SAM    SAM/pointed_sf    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)LRR_8 (PF13855)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam13855    pfam07647   
Domain families : Smart (EMBL)LRR_TYP (SM00369)  SAM (SM00454)  
Conserved Domain (NCBI)LRSAM1
DMDM Disease mutations90678
Blocks (Seattle)LRSAM1
SuperfamilyQ6UWE0
Human Protein Atlas [tissue]ENSG00000148356-LRSAM1 [tissue]
Peptide AtlasQ6UWE0
HPRD14325
IPIIPI00300805   IPI00289113   IPI00550437   
Protein Interaction databases
DIP (DOE-UCLA)Q6UWE0
IntAct (EBI)Q6UWE0
FunCoupENSG00000148356
BioGRIDLRSAM1
STRING (EMBL)LRSAM1
ZODIACLRSAM1
Ontologies - Pathways
QuickGOQ6UWE0
Ontology : AmiGOprotein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  protein binding  cytoplasm  cytoplasm  cytosol  autophagy  membrane  membrane  protein catabolic process  negative regulation of endocytosis  viral budding  metal ion binding  protein autoubiquitination  ubiquitin protein ligase activity  ubiquitin protein ligase activity  ubiquitin-dependent endocytosis  ubiquitin-dependent endocytosis  positive regulation of xenophagy  positive regulation of xenophagy  positive regulation of autophagosome assembly  positive regulation of autophagosome assembly  
Ontology : EGO-EBIprotein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  protein binding  cytoplasm  cytoplasm  cytosol  autophagy  membrane  membrane  protein catabolic process  negative regulation of endocytosis  viral budding  metal ion binding  protein autoubiquitination  ubiquitin protein ligase activity  ubiquitin protein ligase activity  ubiquitin-dependent endocytosis  ubiquitin-dependent endocytosis  positive regulation of xenophagy  positive regulation of xenophagy  positive regulation of autophagosome assembly  positive regulation of autophagosome assembly  
Pathways : KEGGTryptophan metabolism   
NDEx NetworkLRSAM1
Atlas of Cancer Signalling NetworkLRSAM1
Wikipedia pathwaysLRSAM1
Orthology - Evolution
OrthoDB90678
GeneTree (enSembl)ENSG00000148356
Phylogenetic Trees/Animal Genes : TreeFamLRSAM1
HOGENOMQ6UWE0
Homologs : HomoloGeneLRSAM1
Homology/Alignments : Family Browser (UCSC)LRSAM1
Gene fusions - Rearrangements
Fusion PortalLRSAM1 DENND1A
Fusion PortalLRSAM1 GARNL3
Fusion : QuiverLRSAM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRSAM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRSAM1
dbVarLRSAM1
ClinVarLRSAM1
1000_GenomesLRSAM1 
Exome Variant ServerLRSAM1
ExAC (Exome Aggregation Consortium)ENSG00000148356
GNOMAD BrowserENSG00000148356
Varsome BrowserLRSAM1
Genetic variants : HAPMAP90678
Genomic Variants (DGV)LRSAM1 [DGVbeta]
DECIPHERLRSAM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRSAM1 
Mutations
ICGC Data PortalLRSAM1 
TCGA Data PortalLRSAM1 
Broad Tumor PortalLRSAM1
OASIS PortalLRSAM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRSAM1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLRSAM1
Mutations and Diseases : HGMDLRSAM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LRSAM1
DgiDB (Drug Gene Interaction Database)LRSAM1
DoCM (Curated mutations)LRSAM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRSAM1 (select a term)
intoGenLRSAM1
Cancer3DLRSAM1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610933    614436   
Orphanet21110   
DisGeNETLRSAM1
MedgenLRSAM1
Genetic Testing Registry LRSAM1
NextProtQ6UWE0 [Medical]
TSGene90678
GENETestsLRSAM1
Target ValidationLRSAM1
Huge Navigator LRSAM1 [HugePedia]
snp3D : Map Gene to Disease90678
BioCentury BCIQLRSAM1
ClinGenLRSAM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD90678
Chemical/Pharm GKB GenePA134890010
Clinical trialLRSAM1
Miscellaneous
canSAR (ICR)LRSAM1 (select the gene name)
DataMed IndexLRSAM1
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRSAM1
EVEXLRSAM1
GoPubMedLRSAM1
iHOPLRSAM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 3 15:51:17 CEST 2019

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