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    LRSAM1 leucine rich repeat and sterile alpha motif containing 1 [ Homo sapiens ]

    Gene ID: 90678, updated on 11-May-2012
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    Summary

    Official Symbol
    LRSAM1provided by HGNC
    Official Full Name
    leucine rich repeat and sterile alpha motif containing 1provided by HGNC
    Primary source
    HGNC:25135
    Locus tag
    UNQ6496/PRO21356
    See related
    Ensembl:ENSG00000148356; HPRD:14325; MIM:610933; Vega:OTTHUMG00000020701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAL; CMT2P; RIFLE; FLJ31641
    Summary
    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]
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    Genomic context

    Location :
    9q33.3
    Sequence :
    Chromosome: 9; NC_000009.11 (130213765..130265780)
    See LRSAM1 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 79 Neighboring gene small nucleolar RNA, H/ACA box 65 Neighboring gene ribosomal protein L12 Neighboring gene family with sequence similarity 129, member B Neighboring gene syntaxin binding protein 1 Neighboring gene microRNA 3911

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Weterman MA, et al. Hum Mol Genet, 2012 Jan 15. PMID 22012984.
    2. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (25) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy
      Title: A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
    2. LRSAM1 as a component of the antibacterial autophagic response.
      Title: Human leucine-rich repeat proteins: a genome-wide bioinformatic categorization and functional analysis in innate immunity.
    3. LRSAM1 is a strong candidate for the causal gene for the Charcot-Marie-Tooth disease.
      Title: Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
    4. Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation.
      Title: Regulation of Tsg101 expression by the steadiness box: a role of Tsg101-associated ligase.
    5. Results suggest that RIFLE represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells [RIFLE protein].
      Title: RIFLE: a novel ring zinc finger-leucine-rich repeat containing protein, regulates select cell adhesion molecules in PC12 cells.
    6. Tal 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
      Title: Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Charcot-Marie-Toothe disease, axonal, type 2P

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag TAL, a Tsg101-associated ligase, binds and ubiquitinates Tsg101; TAL-mediated binding and ubiquitination of Tsg101 cooperatively regulate release of HIV-1 Gag PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q6UWE0 P54253 ATXN1    HPRD  PubMed  
    Q6UWE0 Hypothetical protein LOC51252 FAM178B    HPRD  PubMed  
    Q6UWE0 P60520 GABARAPL2    HPRD  PubMed  
    Q6UWE0 Q16478 GRIK5    HPRD  PubMed  
    Q6UWE0 P49840 GSK3A    HPRD  PubMed  
    Q6UWE0 Q07866 KLC1    HPRD  PubMed  
    Q6UWE0 Q6UWE0 LRSAM1    HPRD  PubMed  
    Q6UWE0 Beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B MGAT4B    HPRD  PubMed  
    Q6UWE0 Q9UIF7 MUTYH    HPRD  PubMed  
    Q6UWE0 P10916 MYL2    HPRD  PubMed  
    Q6UWE0 KIAA0980 protein NINL    HPRD  PubMed  
    Q6UWE0 PHD finger protein 23 PHF23    HPRD  PubMed  
    Q6UWE0 P48443 RXRG    HPRD  PubMed  
    Q6UWE0 O14798 TNFRSF10C    HPRD  PubMed  
    Q6UWE0 Q99816 TSG101    HPRD  PubMed  
    BioGRID:124754 BioGRID:112221 ATXN7    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124754 BioGRID:119409 FAM178B    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:121254 GPR108    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:110029 KLC1    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:116630 NINL    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113102 TSG101    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:124754 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124754 BioGRID:113169 UBE2D1    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113170 UBE2D2    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113171 UBE2D3    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:119641 UBE2D4    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113172 UBE2E1    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113176 UBE2H    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:119555 UBE2J1    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:109340 UBE2K    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:113182 UBE2N    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:120572 UBE2W    BioGRID  PubMed Two-hybrid 
    BioGRID:124754 BioGRID:120580 UEVLD    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    negative regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    non-lytic virus budding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    ubiquitin-dependent endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane part IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase LRSAM1
    Names
    E3 ubiquitin-protein ligase LRSAM1
    Tsg101-associated ligase
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032008.1 RefSeqGene

      Range
      5001..57016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005373.3 → NP_001005373.1  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AY358830, BC009239, DA165729, DB309230
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      Related
      ENSP00000300417, ENST00000300417
      Conserved Domains (4) summary
      COG4886
      Location:81 – 189
      Blast Score: 165
      COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
      PRK12704
      Location:290 – 376
      Blast Score: 109
      PRK12704; phosphodiesterase; Provisional
      cd09523
      Location:567 – 631
      Blast Score: 246
      SAM_TAL; SAM domain of TAL subfamily
      cl15348
      Location:674 – 693
      Blast Score: 97
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    2. NM_001005374.3 → NP_001005374.1  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AI364608, AY358830, BC009239
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      Related
      ENSP00000362419, OTTHUMP00000022175, ENST00000373322, OTTHUMT00000054166
      Conserved Domains (4) summary
      COG4886
      Location:81 – 189
      Blast Score: 165
      COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
      PRK12704
      Location:290 – 376
      Blast Score: 109
      PRK12704; phosphodiesterase; Provisional
      cd09523
      Location:567 – 631
      Blast Score: 246
      SAM_TAL; SAM domain of TAL subfamily
      cl15348
      Location:674 – 693
      Blast Score: 97
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    3. NM_001190723.2 → NP_001177652.1  E3 ubiquitin-protein ligase LRSAM1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK056203, BC009239, DA165729, DB309230
      Consensus CDS
      CCDS55347.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      Related
      ENSP00000362421, OTTHUMP00000022173, ENST00000373324, OTTHUMT00000054163
      Conserved Domains (4) summary
      COG4886
      Location:81 – 189
      Blast Score: 166
      COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
      PRK12704
      Location:290 – 376
      Blast Score: 109
      PRK12704; phosphodiesterase; Provisional
      cd09523
      Location:540 – 604
      Blast Score: 246
      SAM_TAL; SAM domain of TAL subfamily
      cl15348
      Location:647 – 666
      Blast Score: 97
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    4. NM_138361.5 → NP_612370.3  E3 ubiquitin-protein ligase LRSAM1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AI364608, AK091589, BC009239, DA726792
      Consensus CDS
      CCDS6873.1
      UniProtKB/Swiss-Prot
      Q6UWE0
      Related
      ENSP00000322937, OTTHUMP00000022174, ENST00000323301, OTTHUMT00000054164
      Conserved Domains (4) summary
      COG4886
      Location:81 – 189
      Blast Score: 165
      COG4886; Leucine-rich repeat (LRR) protein [Function unknown]
      PRK12704
      Location:290 – 376
      Blast Score: 109
      PRK12704; phosphodiesterase; Provisional
      cd09523
      Location:567 – 631
      Blast Score: 246
      SAM_TAL; SAM domain of TAL subfamily
      cl15348
      Location:674 – 693
      Blast Score: 97
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      130213765..130265780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      99829749..99881715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL445222.9 CAH72930.1
      CAH72931.1
    genomic CH471090.1 EAW87671.1
      EAW87672.1
      EAW87673.1
      EAW87674.1
    mRNA AF086398.1 None
    mRNA AI364608.1 None
    mRNA AK056203.1 BAB71119.1
    mRNA AK056305.1 BAB71144.1
    mRNA AK091589.1 BAC03703.1
    mRNA AK097094.1 None
    mRNA AK226106.1 None
    mRNA AY358830.1 AAQ89189.1
    mRNA BC009239.2 AAH09239.1
    mRNA DA165729.1 None
    mRNA DA393757.1 None
    mRNA DA726792.1 None
    mRNA DB165274.1 None
    mRNA DB309230.1 None
    mRNA Z44095.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWE0.1 GenPept UniProtKB/Swiss-Prot:Q6UWE0
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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