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Aliases for LRSAM1 Gene

Aliases for LRSAM1 Gene

  • Leucine Rich Repeat And Sterile Alpha Motif Containing 1 2 3
  • TAL 3 4 6
  • Tsg101-Associated Ligase 3 4
  • CMT2P 3 6
  • RIFLE 3 6
  • Leucine-Rich Repeat And Sterile Alpha Motif-Containing Protein 1 4
  • E3 Ubiquitin-Protein Ligase LRSAM1 3
  • EC 6.3.2.- 4
  • 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 autosomal dominant charcot-marie-tooth disease type 2p. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity and hormone activity. An important paralog of this gene is LRRC30.

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.

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

Transcription factor binding sites by QIAGEN in the LRSAM1 gene promoter:

Genomic Location for LRSAM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Alternative splice isoforms for LRSAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRSAM1 Gene

Proteomics data for LRSAM1 Gene at MOPED

Post-translational modifications for LRSAM1 Gene

  • Ubiquitination at Lys491 and Lys564
  • Modification sites at PhosphoSitePlus

Other Protein References for LRSAM1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LRSAM1 (LRSAM1)

No data available for DME Specific Peptides for LRSAM1 Gene

Domains for LRSAM1 Gene

Gene Families for LRSAM1 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

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 :
  • Q6UWE0
Domain:
  • The coiled coil domains interact with the SB domain of TSG101.
  • The PTAP motifs mediate the binding to UEV domains.
  • 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.

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:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 15256501
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with LRSAM1: view

Phenotypes for LRSAM1 Gene

GenomeRNAi human phenotypes for LRSAM1:
genes like me logo Genes that share phenotypes with LRSAM1: view

Animal Model Products

CRISPR Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRSAM1 Gene COMPARTMENTS Subcellular localization image for LRSAM1 gene
Compartment Confidence
cytosol 3
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for LRSAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 15256501
genes like me logo Genes that share ontologies with LRSAM1: view

Pathways for LRSAM1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0008219 cell death --
GO:0009401 phosphoenolpyruvate-dependent sugar phosphotransferase system --
GO:0030163 protein catabolic process IMP 18077552
GO:0045806 negative regulation of endocytosis IMP 15256501
genes like me logo Genes that share ontologies with LRSAM1: view

Compounds for LRSAM1 Gene

(4) HMDB Compounds for LRSAM1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRSAM1

Primer 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 for LRSAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRSAM1 Gene

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 expressions with LRSAM1: view

In Situ Assay Products

No data available for 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 35
  • 99.17 (n)
  • 98.89 (a)
LRSAM1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRSAM1 35
  • 89.34 (n)
  • 91.55 (a)
LRSAM1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRSAM1 35
  • 89.81 (n)
  • 91.15 (a)
LRSAM1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrsam1 35
  • 85.98 (n)
  • 87.97 (a)
Lrsam1 16
Lrsam1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRSAM1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRSAM1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrsam1 35
  • 86.54 (n)
  • 89.21 (a)
chicken
(Gallus gallus)
Aves LRSAM1 35
  • 73.08 (n)
  • 72.48 (a)
LRSAM1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRSAM1 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19414 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lrsam1 35
  • 67.96 (n)
  • 67.08 (a)
zebrafish
(Danio rerio)
Actinopterygii lrsam1 35
  • 60.89 (n)
  • 58.45 (a)
lrsam1 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005053 35
  • 44.94 (n)
  • 32.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3494 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C14F11.2 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for LRSAM1:
  • 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 MAF
rs1317843 -- 127,490,007(+) CGGCC(C/T)AGGAG intron-variant
rs1317844 -- 127,490,033(+) TTAGA(C/T)CCTCC intron-variant
rs1539564 -- 127,491,652(-) ATGTG(C/T)GCCTG intron-variant
rs1539565 -- 127,490,092(-) AAGGA(A/G/T)AGCTT intron-variant
rs1539567 - 127,479,887(-) TGCGT(C/T)GAGGT reference, missense, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv416166 CNV Loss 16902084
nsv893860 CNV Gain 21882294
esv2739052 CNV Deletion 23290073
esv1080051 CNV Deletion 17803354
nsv466569 CNV Loss 19166990
dgv8286n71 CNV Loss 21882294
nsv893865 CNV Loss 21882294

Relevant External Links for LRSAM1 Gene

HapMap Linkage Disequilibrium report
LRSAM1
Human Gene Mutation Database (HGMD)
LRSAM1

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

Disorders for LRSAM1 Gene

(1) OMIM Diseases for LRSAM1 Gene (610933)

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.

(2) University of Copenhagen DISEASES for LRSAM1 Gene

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

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 23
  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
  3. Regulation of Tsg101 expression by the steadiness box: a role of Tsg101-associated ligase. (PMID: 18077552) McDonald B. … Martin-Serrano J. (Mol. Biol. Cell 2008) 3 23
  4. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. (PMID: 20865121) Guernsey D.L. … Samuels M.E. (PLoS Genet. 2010) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for LRSAM1 Gene

Sources for LRSAM1 Gene

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