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Aliases for LRSAM1 Gene

Aliases for LRSAM1 Gene

  • Leucine Rich Repeat And Sterile Alpha Motif Containing 1 2 3 5
  • Tsg101-Associated Ligase 3 4
  • TAL 3 4
  • Leucine-Rich Repeat And Sterile Alpha Motif-Containing Protein 1 4
  • E3 Ubiquitin-Protein Ligase LRSAM1 3
  • EC 6.3.2.- 4
  • CMT2P 3
  • RIFLE 3
  • HTAL 4

External Ids for LRSAM1 Gene

Previous GeneCards Identifiers for LRSAM1 Gene

  • GC09P125590
  • GC09P127293
  • GC09P129253
  • GC09P130215
  • GC09P099831

Summaries for LRSAM1 Gene

Entrez Gene Summary for LRSAM1 Gene

  • This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for LRSAM1 Gene

LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1) is a Protein Coding gene. Diseases associated with LRSAM1 include Charcot-Marie-Toothe Disease, Axonal, Type 2P and Charcot-Marie-Tooth Disease, Type 1B. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and hormone activity. An important paralog of this gene is LRCH4.

UniProtKB/Swiss-Prot for LRSAM1 Gene

  • E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098).

Gene Wiki entry for LRSAM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRSAM1 Gene

Genomics for LRSAM1 Gene

Regulatory Elements for LRSAM1 Gene

Enhancers for LRSAM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F127526 0.6 ENCODE 11.3 +75.4 75367 0.9 MAZ PKNOX1 ZIC2 POLR2A SMARCA4 ZSCAN16 GLIS1 ZNF600 ZBTB33 RPL12 LRSAM1 LOC105376281 ENSG00000200788
GH09F126790 1.3 Ensembl ENCODE 5 -658.7 -658698 4.6 PKNOX1 SIN3A FEZF1 BRCA1 YY1 ZNF121 KLF7 FOS DEK NFYC ZBTB34 ENSG00000252985 ZBTB43 LRSAM1 PIR57638
GH09F127502 1 ENCODE 5.6 +55.1 55104 7.7 ARID4B ZNF2 ZNF121 GLIS2 GATA2 ZNF143 FOS DEK ZNF263 NCOA1 RPL12 SLC2A8 LRSAM1 LOC105376281 ENSG00000200788
GH09F127128 1.4 FANTOM5 Ensembl ENCODE 3.6 -322.3 -322326 2.1 TBL1XR1 FEZF1 ZNF335 ZNF121 ZNF366 GATA2 SCRT2 ZNF362 CBFB CEBPB RALGPS1 LRSAM1 ANGPTL2 LOC105376278
GH09F127166 1.5 FANTOM5 Ensembl ENCODE 1.9 -284.4 -284448 1.7 HDGF PKNOX1 NSD2 YBX1 ZNF121 ELK1 FOS KLF13 TBX21 SMARCA4 RALGPS1 CDK9 PTRH1 RPL12 LRSAM1 LOC105376278 ANGPTL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRSAM1 on UCSC Golden Path with GeneCards custom track

Promoters for LRSAM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001314768 -186 2601 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302

Genomic Location for LRSAM1 Gene

Chromosome:
9
Start:
127,451,486 bp from pter
End:
127,503,501 bp from pter
Size:
52,016 bases
Orientation:
Plus strand

Genomic View for LRSAM1 Gene

Genes around LRSAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRSAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRSAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRSAM1 Gene

Proteins for LRSAM1 Gene

  • Protein details for LRSAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWE0-LRSM1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase LRSAM1
    Protein Accession:
    Q6UWE0
    Secondary Accessions:
    • Q5VVV0
    • Q8NB40
    • Q96GT5
    • Q96MX5
    • Q96MZ7

    Protein attributes for LRSAM1 Gene

    Size:
    723 amino acids
    Molecular mass:
    83594 Da
    Quaternary structure:
    • Interacts with TSG101 (PubMed:17556548). Interacts with PHF23 (PubMed:25484098).

    Alternative splice isoforms for LRSAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRSAM1 Gene

Post-translational modifications for LRSAM1 Gene

  • Ubiquitination promoted by PHF23 leads to proteasomal degradation.
  • Ubiquitination at Lys 491 and Lys 564
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRSAM1 Gene

Domains & Families for LRSAM1 Gene

Gene Families for LRSAM1 Gene

Suggested Antigen Peptide Sequences for LRSAM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWE0

UniProtKB/Swiss-Prot:

LRSM1_HUMAN :
  • The coiled coil domains interact with the SB domain of TSG101.
  • Contains 6 LRR (leucine-rich) repeats.
Domain:
  • The coiled coil domains interact with the SB domain of TSG101.
  • The PTAP motifs mediate the binding to UEV domains.
  • The LRR domain is necessary and sufficient for localization to bacterial targets.
  • The RING domain is required for ubiquitination.
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with LRSAM1: view

Function for LRSAM1 Gene

Molecular function for LRSAM1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098).

Enzyme Numbers (IUBMB) for LRSAM1 Gene

Gene Ontology (GO) - Molecular Function for LRSAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 15256501
GO:0005515 protein binding IPI 15256501
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LRSAM1: view
genes like me logo Genes that share phenotypes with LRSAM1: view

Human Phenotype Ontology for LRSAM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LRSAM1 Gene

Localization for LRSAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRSAM1 Gene

Cytoplasm. Note=Displays a punctuate distribution and localizes to a submembranal ring (PubMed:15256501). Localizes to intracellular bacterial pathogens (PubMed:23245322). {ECO:0000269 PubMed:15256501, ECO:0000269 PubMed:23245322}.

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 LRSAM1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for LRSAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 15256501
GO:0016020 membrane IDA 15256501
genes like me logo Genes that share ontologies with LRSAM1: view

Pathways & Interactions for LRSAM1 Gene

genes like me logo Genes that share pathways with LRSAM1: view

UniProtKB/Swiss-Prot Q6UWE0-LRSM1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for LRSAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 18077552
GO:0006810 transport IEA --
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with LRSAM1: view

No data available for SIGNOR curated interactions for LRSAM1 Gene

Drugs & Compounds for LRSAM1 Gene

(3) Drugs for LRSAM1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for LRSAM1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with LRSAM1: view

Transcripts for LRSAM1 Gene

Unigene Clusters for LRSAM1 Gene

Leucine rich repeat and sterile alpha motif containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRSAM1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - -

ExUns: 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29
SP1: - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for LRSAM1 Gene

GeneLoc Exon Structure for
LRSAM1
ECgene alternative splicing isoforms for
LRSAM1

Expression for LRSAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRSAM1 Gene

Protein differential expression in normal tissues from HIPED for LRSAM1 Gene

This gene is overexpressed in Brain (12.3), Lymph node (9.1), and Uterus (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRSAM1 Gene



Protein tissue co-expression partners for LRSAM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRSAM1 Gene:

LRSAM1

SOURCE GeneReport for Unigene cluster for LRSAM1 Gene:

Hs.495188

mRNA Expression by UniProt/SwissProt for LRSAM1 Gene:

Q6UWE0-LRSM1_HUMAN
Tissue specificity: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue.
genes like me logo Genes that share expression patterns with LRSAM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LRSAM1 Gene

Orthologs for LRSAM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRSAM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRSAM1 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia LRSAM1 34 35
  • 89.81 (n)
cow
(Bos Taurus)
Mammalia LRSAM1 34 35
  • 89.34 (n)
rat
(Rattus norvegicus)
Mammalia Lrsam1 34
  • 86.54 (n)
mouse
(Mus musculus)
Mammalia Lrsam1 34 16 35
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia LRSAM1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRSAM1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRSAM1 34 35
  • 73.08 (n)
lizard
(Anolis carolinensis)
Reptilia LRSAM1 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrsam1 34
  • 67.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19414 34
zebrafish
(Danio rerio)
Actinopterygii lrsam1 34 35
  • 60.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005053 34
  • 44.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3494 35
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C14F11.2 35
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for LRSAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for LRSAM1 Gene

ENSEMBL:
Gene Tree for LRSAM1 (if available)
TreeFam:
Gene Tree for LRSAM1 (if available)

Paralogs for LRSAM1 Gene

genes like me logo Genes that share paralogs with LRSAM1: view

Variants for LRSAM1 Gene

Sequence variations from dbSNP and Humsavar for LRSAM1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_077460 Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]
rs138226428 Pathogenic 127,487,695(+) ATGAA(C/T)GATTC nc-transcript-variant, reference, stop-gained
rs387907032 Pathogenic 127,501,011(+) ACAGA(A/C/G)CTGAA nc-transcript-variant, reference, synonymous-codon, missense
rs756880678 Pathogenic 127,501,009(+) CCACA(A/G)AGCTG splice-acceptor-variant
rs786200930 Pathogenic 127,502,849(+) CCCGC(-/GC)TGTGC nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for LRSAM1 Gene

Variant ID Type Subtype PubMed ID
nsv466569 CNV loss 19166990
nsv416166 CNV deletion 16902084
esv3621785 CNV loss 21293372
esv2739052 CNV deletion 23290073
esv1080051 CNV deletion 17803354

Variation tolerance for LRSAM1 Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRSAM1 Gene

Human Gene Mutation Database (HGMD)
LRSAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRSAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRSAM1 Gene

Disorders for LRSAM1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for LRSAM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-toothe disease, axonal, type 2p
  • charcot-marie-tooth disease, axonal, type 2p
charcot-marie-tooth disease, type 1b
  • charcot-marie-tooth disease, demyelinating, type 1b
roussy-levy syndrome
  • roussy-levy hereditary areflexic dystasia
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
charcot-marie-tooth disease
  • hereditary motor and sensory neuropathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LRSM1_HUMAN
  • Charcot-Marie-Tooth disease 2P (CMT2P) [MIM:614436]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:20865121, ECO:0000269 PubMed:22012984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRSAM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRSAM1
genes like me logo Genes that share disorders with LRSAM1: view

No data available for Genatlas for LRSAM1 Gene

Publications for LRSAM1 Gene

  1. Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor endocytosis and retrovirus budding. (PMID: 15256501) Amit I. … Yarden Y. (Genes Dev. 2004) 3 4 22 64
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  3. PHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1. (PMID: 25484098) Wang Z. … Chen Y. (Autophagy 2014) 3 4 64
  4. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. (PMID: 22012984) Weterman M.A. … Baas F. (Hum. Mol. Genet. 2012) 3 4 64
  5. The LRR and RING domain protein LRSAM1 is an E3 ligase crucial for ubiquitin-dependent autophagy of intracellular Salmonella Typhimurium. (PMID: 23245322) Huett A. … Xavier R.J. (Cell Host Microbe 2012) 3 4 64

Products for LRSAM1 Gene

Sources for LRSAM1 Gene

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