LRSAM1
entrez
90678
canonical
uniprot
Q6UWE0
canonical
ensembl
ENSG00000148356
resolver
ensp
ENSP00000300417
resolver
ensp
ENSP00000322937
resolver
ensp
ENSP00000362419
resolver
ensp
ENSP00000362421
resolver
ensp
ENSP00000501598
resolver
ensp
ENSP00000502420
resolver
ensp
ENSP00000593205
resolver
ensp
ENSP00000612533
resolver
enst
ENST00000675141
resolver
enst
ENST00000675572
resolver
enst
ENST00000942474
resolver
genesymbol
LRSAM1
resolver
genesymbol_syn
TAL
resolver
hgnc
HGNC:25135
resolver
uniprot
A0A6Q8PGW1
resolver
uniprot
Q5VVV0
resolver
uniprot
Q8NB40
resolver
uniprot
Q96GT5
resolver
uniprot
Q96MX5
resolver
uniprot
Q96MZ7
resolver
uniprot_entry
A0A6Q8PGW1_HUMAN
resolver
uniprot_entry
LRSM1_HUMAN
resolver
uniprot_sec
Q5VVV0
resolver
uniprot_sec
Q8NB40
resolver
uniprot_sec
Q96GT5
resolver
uniprot_sec
Q96MX5
resolver
uniprot_sec
Q96MZ7
resolver
amino_acid_sequence
MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIPFGAFATCKVLQKKVLIVHTNHLTSLLPKSCSLLSLATIKVLDLHDNQLTALPDDLGQLTALQVLNVERNQLMQLPRSIGNLTQLQTLNVKDNKLKELPDTVGELRSLRTLNISGNEIQRLPQMLAHVRTLEMLSLDASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQYLLPILEQDGIENSRDSPDGPTDRFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLELGQREHTQLLQQSSSQKDEILQTVKEEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQNISSRIQKLLQDNQRQKKSSEILKSLENERIRMEQLMSITQEETESLRRRDVASAMQQMLTESCKNRLIQMAYESQRQNLVQQACSSMAEMDERFQQILSWQQMDQNKAISQILQESAMQKAAFEALQVKKDLMHRQIRSQIKLIETELLQLTQLELKRKSLDTESLQEMISEQRWALSSLLQQLLKEKQQREEELREILTELEAKSETRQENYWLIQYQRLLNQKPLSLKLQEEGMERQLVALLEELSAEHYLPIFAHHRLSLDLLSQMSPGDLAKVGVSEAGLQHEILRRVQELLDAARIQPELKPPMGEVVTPTAPQEPPESVRPSAPPAELEVQASECVVCLEREAQMIFLNCGHVCCCQQCCQPLRTCPLCRQDIAQRLRIYHSS
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 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. {ECO:0000269|PubMed:20865121, ECO:0000269|PubMed:22012984, ECO:0000269|PubMed:27615052, ECO:0000269|PubMed:27686364}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
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). {ECO:0000269|PubMed:15256501, ECO:0000269|PubMed:23245322, ECO:0000269|PubMed:25484098}.
uniprot
proteins
mass_dalton
83594
uniprot
proteins
mutagenesis
MUTAGEN 649..664; /note="Missing: Abolishes interaction with TSG101."; /evidence="ECO:0000269|PubMed:15256501"; MUTAGEN 675; /note="C->A: Abolishes ubiquitination of TSG101."; /evidence="ECO:0000269|PubMed:15256501"; MUTAGEN 692; /note="H->A: Abolishes ubiquitination of TSG101."; /evidence="ECO:0000269|PubMed:15256501
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:15256501, ECO:0000269|PubMed:23245322}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitination promoted by PHF23 leads to proteasomal degradation. {ECO:0000269|PubMed:25484098}.
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15256501
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17556548
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20865121
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22012984
uniprot
proteins
pubmed
23245322
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25484098
uniprot
proteins
pubmed
27615052
uniprot
proteins
pubmed
27686364
uniprot
proteins
sequence_length
723
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15256501, ECO:0000269|PubMed:27615052}. 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}.
uniprot
proteins