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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 130213765 and ends at 130265780 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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]  chr9:130213765-130265780 [Contig_View]  LRSAM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000148356 [Gene_View]  chr9:130213765-130265780 [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 hg19 (UCSC)LRSAM1  -     chr9:130213765-130265780 +  9q33.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LRSAM1  -     9q33.3   [Description]    (hg38-Dec_2013)
EnsemblLRSAM1 - 9q33.3 [CytoView hg19]  LRSAM1 - 9q33.3 [CytoView hg38]
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)NC_000009 NC_018920 NG_032008 NT_008470 NW_004929366
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)90678
GTEX Portal (Tissue expression)LRSAM1
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)Insulin-like    Leu-rich_rpt    Leu-rich_rpt_4    SAM    SAM/pointed    SAM_2    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)LRR_4 (PF12799)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam12799    pfam07647   
Domain families : Smart (EMBL)IlGF (SM00078)  RING (SM00184)  SAM (SM00454)  
Conserved Domain (NCBI)LRSAM1
DMDM Disease mutations90678
Blocks (Seattle)LRSAM1
SuperfamilyQ6UWE0
Human Protein AtlasENSG00000148356
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  ubiquitin-protein transferase activity  hormone activity  protein binding  extracellular region  cytoplasm  zinc ion binding  membrane  ligase activity  protein catabolic process  negative regulation of endocytosis  viral budding  protein autoubiquitination  ubiquitin-dependent endocytosis  
Ontology : EGO-EBIprotein polyubiquitination  ubiquitin-protein transferase activity  hormone activity  protein binding  extracellular region  cytoplasm  zinc ion binding  membrane  ligase activity  protein catabolic process  negative regulation of endocytosis  viral budding  protein autoubiquitination  ubiquitin-dependent endocytosis  
NDEx NetworkLRSAM1
Atlas of Cancer Signalling NetworkLRSAM1
Wikipedia pathwaysLRSAM1
Orthology - Evolution
OrthoDB90678
GeneTree (enSembl)ENSG00000148356
Phylogenetic Trees/Animal Genes : TreeFamLRSAM1
HOVERGENQ6UWE0
HOGENOMQ6UWE0
Homologs : HomoloGeneLRSAM1
Homology/Alignments : Family Browser (UCSC)LRSAM1
Gene fusions - Rearrangements
Fusion: TCGALRSAM1 DENND1A
Fusion: TCGALRSAM1 GARNL3
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)LRSAM1 (select the gene name)
Genetic variants : HAPMAP90678
Genomic Variants (DGV)LRSAM1 [DGVbeta]
DECIPHER (Syndromes)9:130213765-130265780  ENSG00000148356
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610933    614436   
Orphanet21110   
MedgenLRSAM1
Genetic Testing Registry LRSAM1
NextProtQ6UWE0 [Medical]
TSGene90678
GENETestsLRSAM1
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)
Probes
Litterature
PubMed41 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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indexed on : Tue Mar 14 12:27:17 CET 2017

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