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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LRSAM1 Gene

protein-coding   GIFtS: 56
GCID: GC09P130215

Leucine Rich Repeat And Sterile Alpha Motif Containing 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine Rich Repeat And Sterile Alpha Motif Containing 11 2     E3 Ubiquitin-Protein Ligase LRSAM12
TAL2 3 5     EC 6.3.2.-3
Tsg101-Associated Ligase2 3     hTAL3
RIFLE2 5     Leucine-Rich Repeat And Sterile Alpha Motif-Containing Protein 13
CMT2P2     

External Ids:    HGNC: 251351   Entrez Gene: 906782   Ensembl: ENSG000001483567   OMIM: 6109335   UniProtKB: Q6UWE03   

Export aliases for LRSAM1 gene to outside databases

Previous GC identifers: GC09P125590 GC09P127293 GC09P129253 GC09P099831


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LRSAM1 Gene:
This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling
pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor
endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript
variants encoding different isoforms have been identified for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for LRSAM1 Gene: 
LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) is a protein-coding gene. Diseases associated with LRSAM1 include charcot-marie-tooth neuropathy type 2p, and horner's syndrome, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and hormone activity. An important paralog of this gene is LRRC8E.

UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0
Function: E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to
inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos

Gene Wiki entry for LRSAM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRSAM1 gene promoter:
         FAC1   E2F   E2F-1   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRSAM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRSAM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRSAM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33.3   Ensembl cytogenetic band:  9q33.3   HGNC cytogenetic band: 9q34.13

LRSAM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRSAM1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P130215:  view genomic region     (about GC identifiers)

Start:
130,213,765 bp from pter      End:
130,265,780 bp from pter
Size:
52,016 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase LRSAM1  
Size: 723 amino acids; 83594 Da
Subunit: Interacts with TSG101
Subcellular location: Cytoplasm. Note=Displays a punctuate distribution and localizes to a submembranal ring
Secondary accessions: Q5VVV0 Q8NB40 Q96GT5 Q96MX5 Q96MZ7
Alternative splicing: 3 isoforms:  Q6UWE0-1   Q6UWE0-2   Q6UWE0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LRSAM1: NX_Q6UWE0

Explore proteomics data for LRSAM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UWE0

  • LRSAM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRSAM1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001005373.1  NP_001005374.1  NP_001177652.1  NP_612370.3  

    ENSEMBL proteins: 
     ENSP00000362421   ENSP00000322937   ENSP00000362419   ENSP00000300417  
    Reactome Protein details: Q6UWE0
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IDA--
    GO:0016020membrane IDA15256501
    GO:0044425membrane part ----

    LRSAM1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SAMD: Sterile alpha motif (SAM) domain containing

    5/8 InterPro protein domains (see all 8):
     IPR001841 Znf_RING
     IPR016179 Insulin-like
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q6UWE0

    ProtoNet protein and cluster: Q6UWE0

    4 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB001841 Zn-finger
    IPB004825 Insulin/IGF/relaxin
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0
    Domain: The coiled coil domains interact with the SB domain of TSG101
    Domain: The PTAP motifs mediate the binding to UEV domains
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    LRSAM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRSM1_HUMAN, Q6UWE0
    Function: E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to
    inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA15256501
    GO:0005179hormone activity IEA--
    GO:0005351sugar:hydrogen symporter activity ----
    GO:0005515protein binding IPI15256501
    GO:0008270zinc ion binding IEA--
         
    LRSAM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LRSAM1:
     Decreased viability with pacli 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LRSAM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for LRSAM1
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0
    Pathway: Protein modification; protein ubiquitination


    LRSAM1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LRSAM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/46 Interacting proteins for LRSAM1 (Q6UWE02, 3 ENSP000003004174) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NINLQ9Y2I62, 3, ENSP000002788864MINT-64682 I2D: score=5 STRING: ENSP00000278886
    TSG101Q998162, 3, ENSP000002519684MINT-66554 I2D: score=5 STRING: ENSP00000251968
    PHF23Q9BUL52, 3, ENSP000003225794MINT-64687 I2D: score=4 STRING: ENSP00000322579
    ATXN1P542532, 3, ENSP000002447694MINT-2877872 I2D: score=3 STRING: ENSP00000244769
    KLC1Q078662, 3MINT-64684 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA18077552
    GO:0009401phosphoenolpyruvate-dependent sugar phosphotransferase system ----
    GO:0015031protein transport IEA--
    GO:0030163protein catabolic process IMP18077552
    GO:0045806negative regulation of endocytosis IMP15256501

    LRSAM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for LRSAM1 (LRSM1)

    4 HMDB Compounds for LRSAM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about LRSAM1 / LRSM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LRSAM1 gene (4 alternative transcripts): 
    NM_001005373.3  NM_001005374.3  NM_001190723.2  NM_138361.5  

    Unigene Cluster for LRSAM1:

    Leucine rich repeat and sterile alpha motif containing 1
    Hs.495188  [show with all ESTs]
    Unigene Representative Sequence: NM_138361
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373324 ENST00000323301(uc004brc.2) ENST00000486587 ENST00000485704
    ENST00000373322(uc004brd.2) ENST00000498513 ENST00000483302(uc004bre.2)
    ENST00000472068 ENST00000476755 ENST00000300417(uc004brb.2 uc010mxk.2)

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    Additional mRNA sequence: 

    AF086398.1 AK056203.1 AK056305.1 AK091589.1 AK226106.1 AY358830.1 BC009239.2 

    16 DOTS entries:

    DT.100684954  DT.97783250  DT.91666535  DT.40308302  DT.100833777  DT.40197366  DT.100788585  DT.100024672 
    DT.100001485  DT.100788582  DT.40124898  DT.100024671  DT.100788588  DT.121170802  DT.121170828  DT.92419781 

    24/138 AceView cDNA sequences (see all 138):

    CA428739 BM010953 BM676281 AX747077 BG683320 BM987675 BF515422 BI915149 
    BM728141 BQ029522 AK091589 BQ129393 CB142288 BM722753 CB145491 AL519742 
    BP341834 NM_138361 AK056305 AK056203 CR622763 BX372139 W73962 AF086398 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for LRSAM1 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:              -           -     -                                   -                                                                 -                     
    SP2:              -           -     -                                   -                                                                 -                     
    SP3:                          -     -                                   -                                                                 -                     
    SP4:                                -                                   -                                                                 -                     
    SP5:                                                                                                                                      -                     

    ExUns: 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29
    SP1:              -     -                                 
    SP2:  -           -     -                                 
    SP3:              -     -                                 
    SP4:              -     -                                 
    SP5:              -     -                                 


    ECgene alternative splicing isoforms for LRSAM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LRSAM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCTCGATC
    LRSAM1 Expression
    About this image


    See LRSAM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRSAM1

    SOURCE GeneReport for Unigene cluster: Hs.495188

    UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0
    Tissue specificity: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle
    tissue

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LRSAM1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrsam11 , 5 leucine rich repeat and sterile alpha motif containing more1, 5 86.08(n)1
    87.97(a)1
      2 (22.09 cM)5
    2277381  NM_199302.21  NP_955006.11 
     329252205 
    chicken
    (Gallus gallus)
    Aves LRSAM11 leucine rich repeat and sterile alpha motif containing more 73.08(n)
    72.48(a)
      417265  XM_415540.3  XP_415540.2 
    lizard
    (Anolis carolinensis)
    Reptilia LRSAM16
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL344004.1(34737-73729)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.194142 Xenopus laevis transcribed sequence with weak similarity more 72.53(n)    BJ074206.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lrsam11 leucine rich repeat and sterile alpha motif containing more 60.92(n)
    58.62(a)
      562066  NM_001100004.1  NP_001093474.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0050531 AGAP005053-PA 44.11(n)
    30.93(a)
      4576263  XM_001230956.2  XP_001230957.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C14F11.26
    Protein C14F11.2
    10(a)
    1 ↔ 1
    X(6208766-6213911)


    ENSEMBL Gene Tree for LRSAM1 (if available)
    TreeFam Gene Tree for LRSAM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRSAM1 gene
    LRRC8E2  LRCH22  RSU12  LRRC182  LRRC8A2  ENSG000002719492  PIDD2  LRCH32  
    LRRC8D2  LRRC282  LRRC572  LRRC8B2  LRRC8C2  LRCH42  LRCH12  

    LRSAM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1302 SNPs in LRSAM1 are shown (see all 1302)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349682741,2
    C--99831696(+) ATAACT/-GAGGG 4 -- int12Minor allele frequency- -:0.41CSA NS 150
    rs673555601,2
    C--99831697(+) TAACG-/TAGGGT 4 -- int10--------
    rs344597661,2
    C--99834427(+) TATGCAA/-AAAAA 4 -- int11Minor allele frequency- -:0.50NA 2
    rs343711451,2
    C--99834677(+) TTTTT-/AG    
       T
    /TAG
    AGAGA
    8 -- cds10--------
    rs796627281,2
    C--99834679(+) TTTAG-/T/TAG 
            
    AGATG
    8 -- int1 cds10--------
    rs1134721841,2
    C,F--99834787(+) ACCACG/ACCCAG 4 -- int12Minor allele frequency- A:0.10CSA WA 120
    rs2001910271,2
    --99836680(+) AACAA-/CAACAA 4 -- int10--------
    rs78746401,2
    C--99836681(+) aacaaC/Aacaaa 4 -- int11Minor allele frequency- A:0.50NA 2
    rs78747431,2
    C--99836683(+) caaaaC/Aaaaaa 4 -- int11Minor allele frequency- A:0.50NA 2
    rs2008771371,2
    --99836683(+) CAAAA-/CAAAAA 4 -- int10--------

    HapMap Linkage Disequilibrium report for LRSAM1 (130213765 - 130265780 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for LRSAM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739052CNV Deletion23290073
    esv1080051CNV Deletion17803354
    nsv466569CNV Loss19166990
    nsv893865CNV Loss21882294
    dgv8286n71CNV Loss21882294
    nsv416166CNV Loss16902084
    nsv893859CNV Loss21882294
    nsv893860CNV Gain21882294


    Human Gene Mutation Database (HGMD): LRSAM1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LRSAM1
    DNA2.0 Custom Variant and Variant Library Synthesis for LRSAM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610933    OMIM disorders: --

    UniProtKB/Swiss-Prot: LRSM1_HUMAN, Q6UWE0
  • Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of
    obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 15 diseases for LRSAM1:    About MalaCards
    charcot-marie-tooth neuropathy type 2p    horner's syndrome    autosomal dominant charcot-marie-tooth disease type 2p    mixed malaria
    hemopneumothorax    charcot-marie-tooth neuropathy type 2    charcot-marie-tooth disease    tooth disease
    charcot-marie-tooth neuropathy    axonal neuropathy    polyneuropathy    macular degeneration
    malaria    ataxia    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for LRSAM1:
    Kidney failure     Mixed malaria

    LRSAM1 for disorders           About GeneDecksing


    Export disorders for LRSAM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LRSAM1 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with LRSAM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding. (PubMed id 15256501)1, 2, 9 Amit I.... Yarden Y. (2004)
    3. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. (PubMed id 22012984)1, 2 Weterman M.A.... Baas F. (2012)
    4. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. (PubMed id 20865121)1, 2 Guernsey D.L....Samuels M.E. (2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Regulation of Tsg101 Expression by the Steadiness Box: A Role of Tsg101-associated Ligase. (PubMed id 18077552)1, 9 McDonald B. and Martin-Serrano J. (2008)
    9. A novel LRSAM1 mutation is associated with autosomal d ominant axonal Charcot-Marie-Tooth disease. (PubMed id 22781092)1 Nicolaou P....Christodoulou K. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90678 HGNC: 25135 AceView: LRSAM1 Ensembl:ENSG00000148356 euGenes: HUgn90678
    ECgene: LRSAM1 H-InvDB: LRSAM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LRSAM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRSAM1 gene:
    Search GeneIP for patents involving LRSAM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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