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    Lrsam1 leucine rich repeat and sterile alpha motif containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 227738, updated on 2-Nov-2024

    Summary

    Official Symbol
    Lrsam1provided by MGI
    Official Full Name
    leucine rich repeat and sterile alpha motif containing 1provided by MGI
    Primary source
    MGI:MGI:2684789
    See related
    Ensembl:ENSMUSG00000026792 AllianceGenome:MGI:2684789
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including positive regulation of macroautophagy; protein ubiquitination; and ubiquitin-dependent endocytosis. Predicted to be located in cytosol and membrane. Is expressed in cranial ganglion; dorsal root ganglion; hindbrain; and olfactory epithelium. Used to study Charcot-Marie-Tooth disease axonal type 2P. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2P. Orthologous to human LRSAM1 (leucine rich repeat and sterile alpha motif containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 21.4), adrenal adult (RPKM 8.4) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Lrsam1 in Genome Data Viewer
    Location:
    2 B; 2 22.09 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32815227..32851666, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32925215..32961654, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 57701 Neighboring gene STARR-seq mESC enhancer starr_04214 Neighboring gene predicted gene 13523 Neighboring gene niban apoptosis regulator 2 Neighboring gene STARR-seq mESC enhancer starr_04216 Neighboring gene STARR-seq mESC enhancer starr_04223 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:32818510-32818663 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:32822577-32822686 Neighboring gene small nucleolar RNA, H/ACA box 65 Neighboring gene ribosomal protein L12 Neighboring gene solute carrier family 2, (facilitated glucose transporter), member 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC56830

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of autophagosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of xenophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein autoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ubiquitin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ubiquitin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in viral budding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in viral budding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase LRSAM1
    Names
    RING-type E3 ubiquitin transferase LRSAM1
    leucine-rich repeat and sterile alpha motif-containing protein 1
    tsg101-associated ligase
    NP_001366368.1
    NP_001366369.1
    NP_001366370.1
    NP_001366371.1
    NP_001366372.1
    NP_001396925.1
    NP_001396926.1
    NP_001396927.1
    NP_001396928.1
    NP_001396929.1
    NP_001396930.1
    NP_001396931.1
    NP_001396932.1
    NP_001396933.1
    NP_001396934.1
    NP_001396935.1
    NP_001396936.1
    NP_001396937.1
    NP_955006.1
    XP_006498026.1
    XP_006498028.1
    XP_006498029.1
    XP_006498030.1
    XP_006498031.1
    XP_036016776.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001379439.1NP_001366368.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1 and encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).
      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG1196
      Location:250559
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG4886
      Location:65189
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:678717
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    2. NM_001379440.1NP_001366369.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).
      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG1196
      Location:250559
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG4886
      Location:65189
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:678717
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    3. NM_001379441.1NP_001366370.1  E3 ubiquitin-protein ligase LRSAM1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      Conserved Domains (5) summary
      cd09523
      Location:548612
      SAM_TAL; SAM domain of TAL subfamily
      COG1196
      Location:231540
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG4886
      Location:46170
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3660
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:659698
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    4. NM_001379442.1NP_001366371.1  E3 ubiquitin-protein ligase LRSAM1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      Conserved Domains (6) summary
      PTZ00266
      Location:225361
      PTZ00266; NIMA-related protein kinase; Provisional
      cd09523
      Location:540604
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:65189
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      TIGR02168
      Location:300562
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:651690
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    5. NM_001379443.1NP_001366372.1  E3 ubiquitin-protein ligase LRSAM1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      Conserved Domains (6) summary
      PTZ00266
      Location:206342
      PTZ00266; NIMA-related protein kinase; Provisional
      cd09523
      Location:521585
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:46170
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      TIGR02168
      Location:281543
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00033
      Location:3660
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:632671
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    6. NM_001409996.1NP_001396925.1  E3 ubiquitin-protein ligase LRSAM1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    7. NM_001409997.1NP_001396926.1  E3 ubiquitin-protein ligase LRSAM1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    8. NM_001409998.1NP_001396927.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
    9. NM_001409999.1NP_001396928.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
    10. NM_001410000.1NP_001396929.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
    11. NM_001410001.1NP_001396930.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
    12. NM_001410002.1NP_001396931.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
      UniProtKB/Swiss-Prot
      Q80ZI6
    13. NM_001410003.1NP_001396932.1  E3 ubiquitin-protein ligase LRSAM1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    14. NM_001410004.1NP_001396933.1  E3 ubiquitin-protein ligase LRSAM1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    15. NM_001410005.1NP_001396934.1  E3 ubiquitin-protein ligase LRSAM1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    16. NM_001410006.1NP_001396935.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL731852
    17. NM_001410007.1NP_001396936.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL731852
    18. NM_001410008.1NP_001396937.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AL731852
    19. NM_199302.3NP_955006.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

      See identical proteins and their annotated locations for NP_955006.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1 and encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).
      Source sequence(s)
      AL731852, AL929154
      Consensus CDS
      CCDS15935.1
      UniProtKB/Swiss-Prot
      Q80ZI6
      Related
      ENSMUSP00000108825.2, ENSMUST00000113200.8
      Conserved Domains (5) summary
      cd09523
      Location:567631
      SAM_TAL; SAM domain of TAL subfamily
      COG1196
      Location:250559
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG4886
      Location:65189
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:3354
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:678717
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins

    RNA

    1. NR_176928.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    2. NR_176929.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    3. NR_176930.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    4. NR_176931.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154
    5. NR_176932.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL731852, AL929154

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      32815227..32851666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497965.3XP_006498028.1  E3 ubiquitin-protein ligase LRSAM1 isoform X1

      See identical proteins and their annotated locations for XP_006498028.1

      Conserved Domains (5) summary
      cd09523
      Location:598662
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:96220
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6485
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:709748
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:289505
      DUF5401; Family of unknown function (DUF5401)
    2. XM_036160883.1XP_036016776.1  E3 ubiquitin-protein ligase LRSAM1 isoform X5

      Conserved Domains (6) summary
      PTZ00266
      Location:237373
      PTZ00266; NIMA-related protein kinase; Provisional
      cd09523
      Location:552616
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:77201
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      TIGR02168
      Location:312574
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00033
      Location:6791
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:663702
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
    3. XM_006497967.3XP_006498030.1  E3 ubiquitin-protein ligase LRSAM1 isoform X2

      Conserved Domains (5) summary
      cd09523
      Location:579643
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:77201
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6791
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:690729
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:270486
      DUF5401; Family of unknown function (DUF5401)
    4. XM_006497968.3XP_006498031.1  E3 ubiquitin-protein ligase LRSAM1 isoform X3

      Conserved Domains (5) summary
      cd09523
      Location:571635
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:96220
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6485
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:682721
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:289506
      DUF5401; Family of unknown function (DUF5401)
    5. XM_006497963.4XP_006498026.1  E3 ubiquitin-protein ligase LRSAM1 isoform X1

      See identical proteins and their annotated locations for XP_006498026.1

      Conserved Domains (5) summary
      cd09523
      Location:598662
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:96220
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6485
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:709748
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:289505
      DUF5401; Family of unknown function (DUF5401)
    6. XM_006497966.4XP_006498029.1  E3 ubiquitin-protein ligase LRSAM1 isoform X1

      See identical proteins and their annotated locations for XP_006498029.1

      Conserved Domains (5) summary
      cd09523
      Location:598662
      SAM_TAL; SAM domain of TAL subfamily
      COG4886
      Location:96220
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6485
      LRR_RI; leucine-rich repeat [structural motif]
      cd16515
      Location:709748
      RING-HC_LRSAM1; RING finger, HC subclass, found in leucine-rich repeat and sterile alpha motif-containing protein 1 (LRSAM1) and similar proteins
      pfam17380
      Location:289505
      DUF5401; Family of unknown function (DUF5401)

    RNA

    1. XR_374086.4 RNA Sequence

    2. XR_004939676.1 RNA Sequence