Lamp1 lysosomal-associated membrane protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lamp1provided by MGI
Official Full Name: lysosomal-associated membrane protein 1provided by MGI
Primary source: MGI:MGI:96745
See related: Ensembl:ENSMUSG00000031447 AllianceGenome:MGI:96745
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
Also known as: P2B; Perk; LGP-A; CD107a; Lamp-1; LGP-120
Summary: Enables protein domain specific binding activity. Involved in protein stabilization. Located in several cellular components, including cytoplasmic vesicle; sarcolemma; and vacuole. Is expressed in several structures, including 1-cell stage embryo; central nervous system; craniocervical region bone; extraembryonic component; and gut. Orthologous to human LAMP1 (lysosomal associated membrane protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 604.1), genital fat pad adult (RPKM 489.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 5.73 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (13209161..13225338)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (13159161..13175338)

Chromosome 8 - NC_000074.7 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?

Gut-licensed IFNgamma(+) NK cells drive LAMP1(+)TRAIL(+) anti-inflammatory astrocytes.
Title: Gut-licensed IFNγ(+) NK cells drive LAMP1(+)TRAIL(+) anti-inflammatory astrocytes.
Hyperglycosylated LAMP1 is associated with the neuro-inflammatory phenotype of Niemann-Pick disease, type C.
Title: Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.
Transcriptomic and bioinformatic analysis during autophagy in RAW264.7 macrophages revealed interaction of metastasis-associated lung adenocarcinoma transcript-1 (Malat1) lncRNA with microRNA (mir)-23-3p and lysosomal-associated membrane protein 1 (Lamp1). Malat1 releases inhibition of Lamp1 expression in macrophages through competitive adsorption of mir-23-3p.
Title: LncRNA expression profile during autophagy and Malat1 function in macrophages.
By whole-mount immunofluorescence on postnatal day 3 mouse cochlea, we show its expression in outer (OHC) and inner (IHC) hair cells cytosol co-localizing with Lamp-1 in lysosomes. Furthermore, we provide evidence that the variant alters the PDE1C hydrolytic activity for both cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP)
Title: A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
larger autophagic vacuoles that colocalize with early endosome antigen 1 (EEA1) but not with lysosomal-associated membrane protein (LAMP)-1 were much more frequently formed in Rab7(Deltapan) pancreatic acinar cells.
Title: Disruption of Small GTPase Rab7 Exacerbates the Severity of Acute Pancreatitis in Experimental Mouse Models.
LIN28A inhibits lysosomeassociated membrane glycoprotein 1 protein expression in embryonic stem and bladder cancer cells.
Title: LIN28A inhibits lysosome‑associated membrane glycoprotein 1 protein expression in embryonic stem and bladder cancer cells.
Both LAMP-1 and LAMP-2 are involved in C2C12 myotube formation and LAMP-2 may contribute dominantly to it.
Title: The Major Lysosomal Membrane Proteins LAMP-1 and LAMP-2 Participate in Differentiation of C2C12 Myoblasts.
A recombinant DNA vaccine, pVAX-LAMP/Gn was previously proved efficient, requiring long-term evaluations. pVAX-LAMP/Gn established memory responses within a long-term protection. Lysosome-targeted strategy showed promise on Gn-based DNA vaccine and further investigations are warranted in other immunogenic Hantaviral antigens.
Title: Recombinant DNA vaccine of Hantavirus Gn and LAMP1 induced long-term immune protection in mice.
The results presented here show the major role of LAMP-2 in caveolin traffic and membrane repair and consequently in T. cruzi invasion.
Title: LAMP-2 absence interferes with plasma membrane repair and decreases T. cruzi host cell invasion.
Here, we identify lamellar inclusions as the subcellular site of lipid accumulation in neurons, we uncover a vicious cycle of cholesterol synthesis and accretion, which may cause gradual neurodegeneration, and we reveal how beta-cyclodextrin, a potential therapeutic drug, reverts these changes. Our study provides new mechanistic insight in NPC disease and uncovers new targets for therapeutic approaches.
Title: Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:224778 (e-PCR)
- UniSTS:224778

Lamp1 (e-PCR), detects polymorphism
- UniSTS:143755

UniSTS:143756 (e-PCR)
- UniSTS:143756

Lamp1 (e-PCR), detects polymorphism
- UniSTS:143756

AI196048 (e-PCR)
- UniSTS:179698

J03881 (e-PCR)
- UniSTS:159736

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables ion channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in autophagic cell death	ISO Inferred from Sequence Orthology more info
involved_in establishment of protein localization to organelle	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of protein localization to organelle	ISO Inferred from Sequence Orthology more info
involved_in granzyme-mediated programmed cell death signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in lysosomal lumen acidification	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of natural killer cell degranulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of natural killer cell mediated cytotoxicity	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of organelle transport along microtubule	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in alveolar lamellar body	ISO Inferred from Sequence Orthology more info
located_in autolysosome	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytolytic granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytolytic granule membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in multivesicular body	IDA Inferred from Direct Assay more info	PubMed
located_in multivesicular body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
located_in phagolysosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysosome-associated membrane glycoprotein 1

Names: 120 kDa lysosomal membrane glycoprotein; CD107 antigen-like family member A; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN 1 PRECURSOR (LAMP-1) (LGP-A) (LGP-120) (CD107A) (P2B); Lamp I; lysosomal membrane glycoprotein 1; lysosomal membrane glycoprotein A; lysosome-associated membrane protein 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)

NM_001317353.1 → NP_001304282.1 lysosome-associated membrane glycoprotein 1 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI835725, AK004637, BC049097

UniProtKB/TrEMBL

Q3TX84, Q8VH34, Q9DC13

Conserved Domains (2) summary

cd12087
Location:372 → 401

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

pfam01299
Location:107 → 407

Lamp; Lysosome-associated membrane glycoprotein (Lamp)
NM_010684.3 → NP_034814.2 lysosome-associated membrane glycoprotein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_034814.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AI835725, AK159376, BC049097

Consensus CDS

CCDS22106.1

UniProtKB/Swiss-Prot

P11438, Q62020

UniProtKB/TrEMBL

Q3TA96, Q3TX84, Q8VH34

Related

ENSMUSP00000033824.7, ENSMUST00000033824.8

Conserved Domains (2) summary

cd12087
Location:371 → 400

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

pfam01299
Location:106 → 406

Lamp; Lysosome-associated membrane glycoprotein (Lamp)