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

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: human all
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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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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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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

EC 2.3.2.27

NP_001366369.1

EC 2.3.2.27

NP_001366370.1

EC 2.3.2.27

NP_001366371.1

EC 2.3.2.27

NP_001366372.1

EC 2.3.2.27

NP_001396925.1

EC 2.3.2.27

NP_001396926.1

EC 2.3.2.27

NP_001396927.1

EC 2.3.2.27

NP_001396928.1

EC 2.3.2.27

NP_001396929.1

EC 2.3.2.27

NP_001396930.1

EC 2.3.2.27

NP_001396931.1

EC 2.3.2.27

NP_001396932.1

EC 2.3.2.27

NP_001396933.1

EC 2.3.2.27

NP_001396934.1

EC 2.3.2.27

NP_001396935.1

EC 2.3.2.27

NP_001396936.1

EC 2.3.2.27

NP_001396937.1

EC 2.3.2.27

NP_955006.1

EC 2.3.2.27

XP_006498026.1

EC 2.3.2.27

XP_006498028.1

EC 2.3.2.27

XP_006498029.1

EC 2.3.2.27

XP_006498030.1

EC 2.3.2.27

XP_006498031.1

EC 2.3.2.27

XP_036016776.1

EC 2.3.2.27

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)

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
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
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
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
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
NM_001409996.1 → NP_001396925.1 E3 ubiquitin-protein ligase LRSAM1 isoform e

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NM_001409997.1 → NP_001396926.1 E3 ubiquitin-protein ligase LRSAM1 isoform e

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NM_001409998.1 → NP_001396927.1 E3 ubiquitin-protein ligase LRSAM1 isoform a

Status: VALIDATED

Source sequence(s)

AL731852, AL929154

UniProtKB/Swiss-Prot

Q80ZI6
NM_001409999.1 → NP_001396928.1 E3 ubiquitin-protein ligase LRSAM1 isoform a

Status: VALIDATED

Source sequence(s)

AL731852, AL929154

UniProtKB/Swiss-Prot

Q80ZI6
NM_001410000.1 → NP_001396929.1 E3 ubiquitin-protein ligase LRSAM1 isoform a

Status: VALIDATED

Source sequence(s)

AL731852, AL929154

UniProtKB/Swiss-Prot

Q80ZI6
NM_001410001.1 → NP_001396930.1 E3 ubiquitin-protein ligase LRSAM1 isoform a

Status: VALIDATED

Source sequence(s)

AL731852, AL929154

UniProtKB/Swiss-Prot

Q80ZI6
NM_001410002.1 → NP_001396931.1 E3 ubiquitin-protein ligase LRSAM1 isoform a

Status: VALIDATED

Source sequence(s)

AL731852, AL929154

UniProtKB/Swiss-Prot

Q80ZI6
NM_001410003.1 → NP_001396932.1 E3 ubiquitin-protein ligase LRSAM1 isoform f

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NM_001410004.1 → NP_001396933.1 E3 ubiquitin-protein ligase LRSAM1 isoform c

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NM_001410005.1 → NP_001396934.1 E3 ubiquitin-protein ligase LRSAM1 isoform g

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NM_001410006.1 → NP_001396935.1 E3 ubiquitin-protein ligase LRSAM1 isoform h

Status: VALIDATED

Source sequence(s)

AL731852
NM_001410007.1 → NP_001396936.1 E3 ubiquitin-protein ligase LRSAM1 isoform h

Status: VALIDATED

Source sequence(s)

AL731852
NM_001410008.1 → NP_001396937.1 E3 ubiquitin-protein ligase LRSAM1 isoform h

Status: VALIDATED

Source sequence(s)

AL731852
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

NR_176928.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NR_176929.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NR_176930.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
NR_176931.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL731852, AL929154
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

32815227..32851666 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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)
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)
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)
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)