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LRSAM1 Gene

protein-coding   GIFtS: 57
GCID: GC09P130215

Leucine Rich Repeat And Sterile Alpha Motif Containing 1

  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)
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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
CMT2P2 5     Leucine-Rich Repeat And Sterile Alpha Motif-Containing Protein 13
RIFLE2 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 mixed malaria. GO annotations related to this gene include ubiquitin-protein ligase activity and hormone activity. An important paralog of this gene is LRRC2.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for LRSAM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys491, Lys564
  • Modification sites at PhosphoSitePlus

  • See LRSAM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    LRSAM1 Human Recombinant Protein Products:

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

    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LRSAM1
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    hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidLRSAM1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LRSM1_HUMAN, Q6UWE0: Cytoplasm. Note=Displays a punctuate distribution and localizes to a submembranal ring
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    LRSAM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LRSAM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for LRSAM1
        Antigen processing: Ubiquitination & Proteasome degradation


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


    LRSAM1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including LRSAM1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LRSAM1

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

    Selected Interacting proteins for LRSAM1 (Q6UWE02, 3 ENSP000003004174) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    1 qRT-PCR Assays for microRNA that regulate LRSAM1:
    hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidLRSAM1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LRSAM1
      QuantiFast Probe-based Assays in human, mouse, rat LRSAM1

    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.100788585  DT.40197366  DT.100024672 
    DT.100001485  DT.100788582  DT.40124898  DT.100024671  DT.100788588  DT.121170802  DT.121170828  DT.92419781 

    Selected AceView cDNA sequences (see all 138):

    AI804371 BX342312 CA425440 BQ721284 BU607630 AW182750 BC009239 BQ129393 
    CB142288 BM722753 CB145491 AL519742 BP341834 NM_138361 AK056305 AK056203 
    CR622763 BX372139 W73962 AF086398 BF916364 AA777476 CA428739 BM010953 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    LRSAM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    LRSAM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRSAM1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including LRSAM1: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRSAM1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LRSAM1 gene from Selected species (see all 16)    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 85.98(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_004945779.1  XP_004945836.1 
    lizard
    (Anolis carolinensis)
    Reptilia LRSAM16
    leucine rich repeat and sterile alpha motif contai...
    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 60.89(n)
    58.45(a)
      562066  NM_001100004.1  NP_001093474.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG34946
    --
    25(a)
    1 ↔ 1
    2R(20361822-20362784)
    worm
    (Caenorhabditis elegans)
    Secernentea C14F11.26
    Protein C14F11.2 (C14F11.2) mRNA, complete cds
    13(a)
    many ↔ many
    X(6208766-6213911) WBGene00015779


    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)
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    Paralogs for LRSAM1 gene
    LRRC22  LRCH22  LRRC182  LRRC302  PIDD2  LRCH32  LRRC572  LRRC10B2  
    LRRC392  LRCH42  LRRC102  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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LRSAM1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610933   
    OMIM disorders: 614436  
    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

  • 16 diseases for LRSAM1:    
    About MalaCards
    charcot-marie-tooth neuropathy type 2p    mixed malaria    charcot-marie-toothe disease, axonal, type 2p    horner's syndrome
    hemopneumothorax    charcot-marie-tooth neuropathy type 2    tooth disease    charcot-marie-tooth disease
    axonal neuropathy    polyneuropathy    neuropathy    malaria
    ataxia    hiv-1    multiple myeloma    myeloma

    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)
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    PubMed articles for LRSAM1 gene, integrated from 10 sources (see all 38):
    (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. (Genome Res. 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. (Genes Dev. 2004)
    3. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. (PubMed id 22012984)1, 2 Weterman M.A.... Baas F. (Hum. Mol. Genet. 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. (PLoS Genet. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 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. (Genome Res. 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. (Mol. Biol. Cell 2008)
    9. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. (PubMed id 22781092)1 Nicolaou P....Christodoulou K. (Eur. J. Hum. Genet. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 90678 HGNC: 25135 AceView: LRSAM1 Ensembl:ENSG00000148356 euGenes: HUgn90678
    ECgene: LRSAM1 H-InvDB: LRSAM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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