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Aliases for LAMP1 Gene

Aliases for LAMP1 Gene

  • Lysosomal Associated Membrane Protein 1 2 3 5
  • Lysosome-Associated Membrane Protein 1 3 4
  • CD107 Antigen-Like Family Member A 3 4
  • LAMP-1 3 4
  • Lysosome-Associated Membrane Glycoprotein 1 3
  • Lysosomal-Associated Membrane Protein 1 2
  • CD107a Antigen 4
  • CD107a 3
  • LGP120 3
  • LAMPA 3

External Ids for LAMP1 Gene

Previous GeneCards Identifiers for LAMP1 Gene

  • GC13P112561
  • GC13P108588
  • GC13P113038
  • GC13P111899
  • GC13P112999
  • GC13P113951
  • GC13P094391

Summaries for LAMP1 Gene

Entrez Gene Summary for LAMP1 Gene

  • The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]

GeneCards Summary for LAMP1 Gene

LAMP1 (Lysosomal Associated Membrane Protein 1) is a Protein Coding gene. Diseases associated with LAMP1 include Salla Disease and Hermansky-Pudlak Syndrome 2. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is LAMP2.

UniProtKB/Swiss-Prot for LAMP1 Gene

  • Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis.

  • Acts as a receptor for Lassa virus protein.

Gene Wiki entry for LAMP1 Gene

Additional gene information for LAMP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMP1 Gene

Genomics for LAMP1 Gene

GeneHancer (GH) Regulatory Elements for LAMP1 Gene

Promoters and enhancers for LAMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J113296 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.6 573 2.6 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 LAMP1 CDC16 TUBGCP3 PCID2 UPF3A GAS6-DT GAS6 LINC01043 CUL4A SPACA7
GH13J113272 Enhancer 1.4 FANTOM5 Ensembl ENCODE 17.7 -22.9 -22918 3.3 RAD21 RARA RFX5 YY1 CHAMP1 ZNF614 FOS ATF7 ZNF362 SMARCC1 LAMP1 PROZ CUL4A GRTP1 PCID2 DCUN1D2-AS DCUN1D2 LDHBP1 MIR8075 GC13M113076
GH13J113206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 -88.3 -88279 5 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 PCID2 CUL4A TUBGCP3 PROZ GAS6-AS1 GAS6 LINC01043 DCUN1D2-AS SPACA7 LDHBP1
GH13J113182 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.6 -110.9 -110880 6.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 SLC30A9 FOS PROZ CUL4A PCID2 KARSP2 F10-AS1 F10 GRTP1 F7 LAMP1 ENSG00000269356
GH13J113192 Enhancer 0.7 ENCODE dbSUPER 10.4 -103.6 -103635 2 JUND CEBPB RCOR1 CEBPG ZNF600 EP300 ATF2 PROZ GRTP1-AS1 GRTP1 LAMP1 DCUN1D2-AS DCUN1D2 CUL4A PCID2 ENSG00000269125 GC13M113076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAMP1 gene promoter:
  • N-Myc
  • S8
  • USF2
  • USF1
  • USF-1:USF-2
  • USF-1
  • Max1
  • c-Myc

Genomic Locations for LAMP1 Gene

Genomic Locations for LAMP1 Gene
chr13:113,297,121-113,323,672
(GRCh38/hg38)
Size:
26,552 bases
Orientation:
Plus strand
chr13:113,951,469-113,977,987
(GRCh37/hg19)
Size:
26,519 bases
Orientation:
Plus strand

Genomic View for LAMP1 Gene

Genes around LAMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMP1 Gene

Proteins for LAMP1 Gene

  • Protein details for LAMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11279-LAMP1_HUMAN
    Recommended name:
    Lysosome-associated membrane glycoprotein 1
    Protein Accession:
    P11279
    Secondary Accessions:
    • B4DWL3
    • Q8WU33
    • Q96I40
    • Q9BRD2
    • Q9NP13

    Protein attributes for LAMP1 Gene

    Size:
    417 amino acids
    Molecular mass:
    44882 Da
    Quaternary structure:
    • (Microbial infection) Interacts with Lassa virus protein glycoprotein.

    Alternative splice isoforms for LAMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMP1 Gene

Post-translational modifications for LAMP1 Gene

  • O- and N-glycosylated; some of the 18 N-linked glycans are polylactosaminoglycans. The glycosylation of N-76 is essential for Lassa virus entry into cells.
  • Glycosylation at Thr331, isoforms=2322, Asn293, isoforms=2261, Asn249, isoforms=2241, Asn228, isoforms=2223, isoforms=2211, Ser209, isoforms=2207, isoforms=2200, Thr199, isoforms=2197, isoforms=181, Asn165, Asn130, Asn121, isoforms=2107, isoforms=2103, isoforms=284, isoforms=276, isoforms=262, Asn45, and isoforms=237
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMP1_HUMAN (355)

Other Protein References for LAMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for LAMP1 (LAMP-1/CD107a)
  • Abcam antibodies for LAMP1

No data available for DME Specific Peptides for LAMP1 Gene

Domains & Families for LAMP1 Gene

Gene Families for LAMP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for LAMP1 Gene

Suggested Antigen Peptide Sequences for LAMP1 Gene

Graphical View of Domain Structure for InterPro Entry

P11279

UniProtKB/Swiss-Prot:

LAMP1_HUMAN :
  • Belongs to the LAMP family.
Family:
  • Belongs to the LAMP family.
genes like me logo Genes that share domains with LAMP1: view

Function for LAMP1 Gene

Molecular function for LAMP1 Gene

UniProtKB/Swiss-Prot Function:
Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis.
UniProtKB/Swiss-Prot Function:
Acts as a receptor for Lassa virus protein.
GENATLAS Biochemistry:
lysosomal associated membrane protein 1

Phenotypes From GWAS Catalog for LAMP1 Gene

Gene Ontology (GO) - Molecular Function for LAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IPI 23394946
GO:0019899 enzyme binding IPI 22641697
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with LAMP1: view
genes like me logo Genes that share phenotypes with LAMP1: view

Animal Models for LAMP1 Gene

MGI Knock Outs for LAMP1:

Animal Model Products

Clone Products

  • Addgene plasmids for LAMP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAMP1 Gene

Localization for LAMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMP1 Gene

Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosome. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane (By similarity). Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). {ECO:0000250 UniProtKB:P05300, ECO:0000269 PubMed:16176980, ECO:0000269 PubMed:17897319}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21266579
GO:0005764 colocalizes_with lysosome IDA,TAS 15613468
GO:0005765 lysosomal membrane ISS --
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA 15052268
genes like me logo Genes that share ontologies with LAMP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LAMP1 Gene

Pathways & Interactions for LAMP1 Gene

genes like me logo Genes that share pathways with LAMP1: view

Pathways by source for LAMP1 Gene

1 BioSystems pathway for LAMP1 Gene
3 Reactome pathways for LAMP1 Gene
4 KEGG pathways for LAMP1 Gene
1 Cell Signaling Technology pathway for LAMP1 Gene

Gene Ontology (GO) - Biological Process for LAMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008626 granzyme-mediated apoptotic signaling pathway IMP 23632890
GO:0016032 viral process IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0043323 positive regulation of natural killer cell degranulation IMP 23632890
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity IMP 23632890
genes like me logo Genes that share ontologies with LAMP1: view

No data available for SIGNOR curated interactions for LAMP1 Gene

Drugs & Compounds for LAMP1 Gene

(9) Drugs for LAMP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for LAMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMP1: view

Transcripts for LAMP1 Gene

mRNA/cDNA for LAMP1 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(722) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LAMP1 Gene

Lysosomal-associated membrane protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for LAMP1

Alternative Splicing Database (ASD) splice patterns (SP) for LAMP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - -
SP2:
SP3:
SP4: - -
SP5: - -
SP6: - - - - -
SP7: -

Relevant External Links for LAMP1 Gene

GeneLoc Exon Structure for
LAMP1
ECgene alternative splicing isoforms for
LAMP1

Expression for LAMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMP1 Gene

This gene is overexpressed in Nasal epithelium (12.9) and Amniocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LAMP1 Gene:

LAMP1

SOURCE GeneReport for Unigene cluster for LAMP1 Gene:

Hs.494419

Evidence on tissue expression from TISSUES for LAMP1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Pancreas(4.7)
  • Bone marrow(4.4)
  • Lung(3.8)
  • Intestine(3.6)
  • Skin(3.6)
  • Spleen(3.4)
  • Kidney(3.3)
  • Blood(3.2)
  • Lymph node(3)
  • Stomach(3)
  • Heart(2.8)
  • Muscle(2.4)
  • Eye(2.3)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with LAMP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMP1 Gene

Orthologs for LAMP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMP1 34 33
  • 98.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMP1 34 33
  • 83.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LAMP1 34 33
  • 76.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lamp1 16 34 33
  • 73.89 (n)
rat
(Rattus norvegicus)
Mammalia Lamp1 33
  • 72.48 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMP1 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMP1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMP1 34 33
  • 57.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMP1 34
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC563328 33
  • 54.92 (n)
LAMP1 (1 of 2) 34
  • 41 (a)
OneToMany
lamp1 34
  • 39 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Lamp1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
Species where no ortholog for LAMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LAMP1 Gene

ENSEMBL:
Gene Tree for LAMP1 (if available)
TreeFam:
Gene Tree for LAMP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMP1: view image

Paralogs for LAMP1 Gene

Paralogs for LAMP1 Gene

(1) SIMAP similar genes for LAMP1 Gene using alignment to 2 proteins:

  • LAMP1_HUMAN
  • B4DWL3_HUMAN

Pseudogenes.org Pseudogenes for LAMP1 Gene

genes like me logo Genes that share paralogs with LAMP1: view

Variants for LAMP1 Gene

Sequence variations from dbSNP and Humsavar for LAMP1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000001261 -- 113,315,738(+) A/G intron_variant
rs1000293289 -- 113,313,444(+) G/C intron_variant
rs1000373041 -- 113,297,366(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000552257 -- 113,299,550(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000570531 -- 113,308,321(+) G/C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LAMP1 Gene

Variant ID Type Subtype PubMed ID
esv2748273 CNV deletion 23290073
esv3633598 CNV loss 21293372
nsv1048814 CNV gain 25217958
nsv509521 CNV insertion 20534489
nsv563316 CNV loss 21841781
nsv563317 CNV loss 21841781
nsv563318 CNV loss 21841781
nsv951927 CNV deletion 24416366

Variation tolerance for LAMP1 Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMP1 Gene

Disorders for LAMP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LAMP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
salla disease
  • sd
hermansky-pudlak syndrome 2
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
phosphatase, acid, of tissues
  • lysosomal acid phosphatase
hemophagocytic lymphohistiocytosis
  • fhl
spinocerebellar ataxia, autosomal recessive 20
  • scar20
- elite association - COSMIC cancer census association via MalaCards
Search LAMP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LAMP1

genes like me logo Genes that share disorders with LAMP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMP1 Gene

Publications for LAMP1 Gene

  1. The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon organization in two genes. (PMID: 8517882) Sawada R … Fukuda M (The Journal of biological chemistry 1993) 3 4 22 58
  2. The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones. (PMID: 2243102) Carlsson SR … Fukuda M (The Journal of biological chemistry 1990) 3 4 22 58
  3. Virus entry. Lassa virus entry requires a trigger-induced receptor switch. (PMID: 24970085) Jae LT … Brummelkamp TR (Science (New York, N.Y.) 2014) 3 4 58
  4. Relationship between CD107a expression and cytotoxic activity. (PMID: 18835598) Aktas E … Deniz G (Cellular immunology 2009) 3 22 58
  5. Differential expression of LAMPs and ubiquitin in human thymus. (PMID: 19343823) Sarafian VS … Gulubova MV (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2009) 3 22 58

Products for LAMP1 Gene

  • Addgene plasmids for LAMP1

Sources for LAMP1 Gene

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