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

Gene ID: 227738, updated on 5-Mar-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 act upstream of or within autophagy and protein transport. 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, Apr 2022]
Expression
Ubiquitous expression in colon adult (RPKM 21.4), adrenal adult (RPKM 8.4) and 28 other tissues See more
Orthologs
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Genomic context

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
  • 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)
  • Gene trapped (2) 
  • Endonuclease-mediated (2)  1 citation

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 transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase activity ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin-protein transferase activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of endocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of autophagosome assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of xenophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in protein autoubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in protein polyubiquitination ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ubiquitin-dependent endocytosis ISO
Inferred from Sequence Orthology
more info
 
involved_in viral budding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
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)

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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_001379439.1NP_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