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

Gene ID: 227738, updated on 27-Nov-2024

Summary

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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
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

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Related articles in PubMed

  1. Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease. Bogdanik LP, et al. Dis Model Mech, 2013 May. PMID 23519028, Free PMC Article
  2. C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model. Moiseev D, et al. Sci Rep, 2022 Jul 16. PMID 35842440, Free PMC Article
  3. Downregulation of microRNA-431-5p promotes enteric neural crest cell proliferation via targeting LRSAM1 in Hirschsprung's disease. Hu B, et al. Dev Growth Differ, 2019 May. PMID 31037734
  4. Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules. Cui Q, et al. Cell, 2023 Feb 16. PMID 36738734
  5. TLR4/NF-κB-responsive microRNAs and their potential target genes: a mouse model of skeletal muscle ischemia-reperfusion injury. Yang JC, et al. Biomed Res Int, 2015. PMID 25692136, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.
    Title: C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.
  2. downregulation of miR-431-5p promoted proliferation of enteric neural crest cells via targeting LRSAM1, which provides an innovative and candidate target for treatment of Hirschsprung's disease
    Title: Downregulation of microRNA-431-5p promotes enteric neural crest cell proliferation via targeting LRSAM1 in Hirschsprung's disease.
  3. TLR4/NF-kappaB-responsive microRNAs and their potential target genes: a mouse model of skeletal muscle ischemia-reperfusion injury.
    Title: TLR4/NF-κB-responsive microRNAs and their potential target genes: a mouse model of skeletal muscle ischemia-reperfusion injury.
  4. Lrsam1 mutant mice are more sensitive to challenge with acrylamide, a neurotoxic agent that causes axon degeneration, indicating that the axons in the mutant mice are indeed compromised.
    Title: Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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

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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)

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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_001379439.1 → NP_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:567 → 631
    SAM_TAL; SAM domain of TAL subfamily
    COG1196
    Location:250 → 559
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4886
    Location:65 → 189
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:33 → 54
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:678 → 717
    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_001379440.1 → NP_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:567 → 631
    SAM_TAL; SAM domain of TAL subfamily
    COG1196
    Location:250 → 559
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4886
    Location:65 → 189
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:33 → 54
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:678 → 717
    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_001379441.1 → NP_001366370.1  E3 ubiquitin-protein ligase LRSAM1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    Conserved Domains (5) summary
    cd09523
    Location:548 → 612
    SAM_TAL; SAM domain of TAL subfamily
    COG1196
    Location:231 → 540
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4886
    Location:46 → 170
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:36 → 60
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:659 → 698
    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_001379442.1 → NP_001366371.1  E3 ubiquitin-protein ligase LRSAM1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    Conserved Domains (6) summary
    PTZ00266
    Location:225 → 361
    PTZ00266; NIMA-related protein kinase; Provisional
    cd09523
    Location:540 → 604
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:65 → 189
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    TIGR02168
    Location:300 → 562
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    sd00033
    Location:33 → 54
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:651 → 690
    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_001379443.1 → NP_001366372.1  E3 ubiquitin-protein ligase LRSAM1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    Conserved Domains (6) summary
    PTZ00266
    Location:206 → 342
    PTZ00266; NIMA-related protein kinase; Provisional
    cd09523
    Location:521 → 585
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:46 → 170
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    TIGR02168
    Location:281 → 543
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    sd00033
    Location:36 → 60
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:632 → 671
    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_001409996.1 → NP_001396925.1  E3 ubiquitin-protein ligase LRSAM1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154

  7. NM_001409997.1 → NP_001396926.1  E3 ubiquitin-protein ligase LRSAM1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154

  8. NM_001409998.1 → NP_001396927.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    UniProtKB/Swiss-Prot
    Q80ZI6

  9. NM_001409999.1 → NP_001396928.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    UniProtKB/Swiss-Prot
    Q80ZI6

  10. NM_001410000.1 → NP_001396929.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    UniProtKB/Swiss-Prot
    Q80ZI6

  11. NM_001410001.1 → NP_001396930.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    UniProtKB/Swiss-Prot
    Q80ZI6

  12. NM_001410002.1 → NP_001396931.1  E3 ubiquitin-protein ligase LRSAM1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154
    UniProtKB/Swiss-Prot
    Q80ZI6

  13. NM_001410003.1 → NP_001396932.1  E3 ubiquitin-protein ligase LRSAM1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154

  14. NM_001410004.1 → NP_001396933.1  E3 ubiquitin-protein ligase LRSAM1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154

  15. NM_001410005.1 → NP_001396934.1  E3 ubiquitin-protein ligase LRSAM1 isoform g

    Status: VALIDATED

    Source sequence(s)
    AL731852, AL929154

  16. NM_001410006.1 → NP_001396935.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AL731852

  17. NM_001410007.1 → NP_001396936.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AL731852

  18. NM_001410008.1 → NP_001396937.1  E3 ubiquitin-protein ligase LRSAM1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AL731852

  19. NM_199302.3 → NP_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:567 → 631
    SAM_TAL; SAM domain of TAL subfamily
    COG1196
    Location:250 → 559
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG4886
    Location:65 → 189
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:33 → 54
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:678 → 717
    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_006497965.3 → XP_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:598 → 662
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:96 → 220
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:64 → 85
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:709 → 748
    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:289 → 505
    DUF5401; Family of unknown function (DUF5401)

  2. XM_036160883.1 → XP_036016776.1  E3 ubiquitin-protein ligase LRSAM1 isoform X5

    Conserved Domains (6) summary
    PTZ00266
    Location:237 → 373
    PTZ00266; NIMA-related protein kinase; Provisional
    cd09523
    Location:552 → 616
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:77 → 201
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    TIGR02168
    Location:312 → 574
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    sd00033
    Location:67 → 91
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:663 → 702
    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_006497967.3 → XP_006498030.1  E3 ubiquitin-protein ligase LRSAM1 isoform X2

    Conserved Domains (5) summary
    cd09523
    Location:579 → 643
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:77 → 201
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:67 → 91
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:690 → 729
    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:270 → 486
    DUF5401; Family of unknown function (DUF5401)

  4. XM_006497968.3 → XP_006498031.1  E3 ubiquitin-protein ligase LRSAM1 isoform X3

    Conserved Domains (5) summary
    cd09523
    Location:571 → 635
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:96 → 220
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:64 → 85
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:682 → 721
    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:289 → 506
    DUF5401; Family of unknown function (DUF5401)

  5. XM_006497963.4 → XP_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:598 → 662
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:96 → 220
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:64 → 85
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:709 → 748
    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:289 → 505
    DUF5401; Family of unknown function (DUF5401)

  6. XM_006497966.4 → XP_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:598 → 662
    SAM_TAL; SAM domain of TAL subfamily
    COG4886
    Location:96 → 220
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:64 → 85
    LRR_RI; leucine-rich repeat [structural motif]
    cd16515
    Location:709 → 748
    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:289 → 505
    DUF5401; Family of unknown function (DUF5401)

RNA

  1. XR_374086.4 RNA Sequence

  2. XR_004939676.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80ZI6.1 GenPept UniProtKB/Swiss-Prot:Q80ZI6

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