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FLASH GENE
Symbol LRSAM1 contributors: mct/npt - updated : 24-12-2013
HGNC name leucine rich repeat and sterile alpha motif containing 1
HGNC id 25135
Corresponding disease
CMT2P Charcot-Marie-Tooth disease, axonal, type 2P
Location 9q34.11      Physical location : 130.213.764 - 130.265.780
Synonym name
  • Tsg101-associated ligase
  • ring zinc finger-leucine-rich repeat containing protein
  • Synonym symbol(s) FLJ31641, RIFLE, TAL, CMT2P
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 52.02 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    ZNF297B 9p24.1-q22.33 zinc finger protein 297B RALGPS1A 9q34.11-q34.12 zinc finger protein 297B ANGPTL2 9q34 angiopoietin-like 2 DKFZp761J1523 9q34.13 hypothetical protein DKFZp761J1523 SLC2A8 9q34.1-q34.2 solute carrier family 2, (facilitated glucose transporter) member 8 ZNF79 9q34.1 zinc finger protein 79 (pT7) RPL12 9q34 ribosomal protein L12 LRSAM1 9q34.13 leucine rich repeat and sterile alpha motif containing 1 DKFZP434H0820 9q34.13 hypothetical protein DKFZp434H0820 STXBP1 9q34.1 syntaxin binding protein 1 LOC286207 9q34.13 hypothetical protein LOC286207 LOC138428 9q34.13 hypothetical protein LOC138428 TTC16 9q34.13 tetratricopeptide repeat domain 16 TOR2A 9q34.11 torsin family 2, member A SH2D3C 9q34.13 SH2 domain containing 3C CDK9 9q34.1 cyclin-dependent kinase 9 (CDC2-related kinase) FPGS 9cen-q34.11 folylpolyglutamate synthase ENG 9q34.1 endoglin (Osler-Rendu-Weber syndrome 1) AK1 9q34.12 adenylate kinase 1 ST6GALNAC6 9q34.13 adenylate kinase 1 SIAT7D 9q34.1 sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) MGC46424 9q34.13 hypothetical protein MGC46424 LOC389790 9 similar to phosphatidylinositol phosphate kinase-like protein DPM2 9q34.13 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit FLJ10232 9q34.13 hypothetical protein FLJ10232
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3152 - 723 - McDonald (2008)
    25 - 3186 - 723 - McDonald (2008)
    25 - 2884 - 723 - McDonald (2008)
    25 - 3065 - 696 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus     Homo sapiensAdult
    Nervousgangliasensory ganglia    Homo sapiensFetal
     spinal cordanterior horn    Homo sapiensAdult
     spinal cordanterior horn    Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium (mucosa)   Homo sapiens
    Muscularsmooth  highly Homo sapiensFetal
    Muscularstriatum  highly Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a RING finger domain necessary for multiple mono-ubiquitylation of TSG101 (Amit 2004)
  • conjugated PhosphoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells (Li 2003)
  • regulates a TSG101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane (Amit 2004)
  • polyubiquitinates lysine residues in the C-terminus of uncomplexed TSG101, resulting in proteasomal degradation (McDonald 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2P
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS