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Entry version 161 (05 Jun 2019)
Sequence version 1 (05 Jul 2004)
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Protein

E3 ubiquitin-protein ligase LRSAM1

Gene

LRSAM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri675 – 710RING-typePROSITE-ProRule annotationAdd BLAST36

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processAutophagy, Protein transport, Transport, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q6UWE0 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
E3 ubiquitin-protein ligase LRSAM1Curated (EC:2.3.2.272 Publications)
Alternative name(s):
Leucine-rich repeat and sterile alpha motif-containing protein 11 Publication
RING-type E3 ubiquitin transferase LRSAM1Curated
Tsg101-associated ligase1 Publication
Short name:
hTAL1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LRSAM11 Publication
Synonyms:TAL1 Publication
ORF Names:UNQ6496/PRO21356
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25135 LRSAM1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610933 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6UWE0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 2P (CMT2P)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077460694C → R in CMT2P; abolishes interaction with FUS. 1 PublicationCorresponds to variant dbSNP:rs759312530EnsemblClinVar.1
Natural variantiVAR_077461694C → Y in CMT2P; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886041051EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi649 – 664Missing : Abolishes interaction with TSG101. 1 PublicationAdd BLAST16
Mutagenesisi675C → A: Abolishes ubiquitination of TSG101. 1 Publication1
Mutagenesisi692H → A: Abolishes ubiquitination of TSG101. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
90678

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
LRSAM1

MalaCards human disease database

More...
MalaCardsi
LRSAM1
MIMi614436 phenotype

Open Targets

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OpenTargetsi
ENSG00000148356

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
300319 Charcot-Marie-Tooth disease type 2P

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134890010

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LRSAM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62511890

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000559231 – 723E3 ubiquitin-protein ligase LRSAM1Add BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei234PhosphoserineCombined sources1
Modified residuei604PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitination promoted by PHF23 leads to proteasomal degradation.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6UWE0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6UWE0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q6UWE0

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q6UWE0

PeptideAtlas

More...
PeptideAtlasi
Q6UWE0

PRoteomics IDEntifications database

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PRIDEi
Q6UWE0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67465
67466 [Q6UWE0-2]
67467 [Q6UWE0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6UWE0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q6UWE0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000148356 Expressed in 142 organ(s), highest expression level in apex of heart

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6UWE0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6UWE0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037304
HPA021403
HPA021844

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TSG101 (PubMed:17556548). Interacts with PHF23 (PubMed:25484098). Interacts with FUS (PubMed:27615052).3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124754, 56 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q6UWE0

Protein interaction database and analysis system

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IntActi
Q6UWE0, 41 interactors

Molecular INTeraction database

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MINTi
Q6UWE0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000322937

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6UWE0

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati30 – 51LRR 1Add BLAST22
Repeati56 – 77LRR 2Add BLAST22
Repeati82 – 103LRR 3Add BLAST22
Repeati105 – 127LRR 4Add BLAST23
Repeati128 – 149LRR 5Add BLAST22
Repeati151 – 172LRR 6Add BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini569 – 632SAMPROSITE-ProRule annotationAdd BLAST64

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili254 – 380Sequence analysisAdd BLAST127
Coiled coili510 – 562Sequence analysisAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi649 – 652PTAP motif 14
Motifi661 – 664PTAP motif 24

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The coiled coil domains interact with the SB domain of TSG101.1 Publication
The PTAP motifs mediate the binding to UEV domains.1 Publication
The LRR domain is necessary and sufficient for localization to bacterial targets.1 Publication
The RING domain is required for ubiquitination.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri675 – 710RING-typePROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0619 Eukaryota
COG4886 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00930000151044

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231972

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UWE0

KEGG Orthology (KO)

More...
KOi
K10641

Identification of Orthologs from Complete Genome Data

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OMAi
ETKQENY

Database of Orthologous Groups

More...
OrthoDBi
1310488at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6UWE0

TreeFam database of animal gene trees

More...
TreeFami
TF329645

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit
3.30.40.10, 1 hit
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13855 LRR_8, 1 hit
PF07647 SAM_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00369 LRR_TYP, 4 hits
SM00454 SAM, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47769 SSF47769, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450 LRR, 4 hits
PS50105 SAM_DOMAIN, 1 hit
PS50089 ZF_RING_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6UWE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLFFRKRKP SEEARKRLEY QMCLAKEAGA DDILDISKCE LSEIPFGAFA
60 70 80 90 100
TCKVLQKKVL IVHTNHLTSL LPKSCSLLSL ATIKVLDLHD NQLTALPDDL
110 120 130 140 150
GQLTALQVLN VERNQLMQLP RSIGNLTQLQ TLNVKDNKLK ELPDTVGELR
160 170 180 190 200
SLRTLNISGN EIQRLPQMLA HVRTLEMLSL DASAMVYPPR EVCGAGTAAI
210 220 230 240 250
LQFLCKESGL EYYPPSQYLL PILEQDGIEN SRDSPDGPTD RFSREELEWQ
260 270 280 290 300
NRFSDYEKRK EQKMLEKLEF ERRLELGQRE HTQLLQQSSS QKDEILQTVK
310 320 330 340 350
EEQSRLEQGL SEHQRHLNAE RQRLQEQLKQ TEQNISSRIQ KLLQDNQRQK
360 370 380 390 400
KSSEILKSLE NERIRMEQLM SITQEETESL RRRDVASAMQ QMLTESCKNR
410 420 430 440 450
LIQMAYESQR QNLVQQACSS MAEMDERFQQ ILSWQQMDQN KAISQILQES
460 470 480 490 500
AMQKAAFEAL QVKKDLMHRQ IRSQIKLIET ELLQLTQLEL KRKSLDTESL
510 520 530 540 550
QEMISEQRWA LSSLLQQLLK EKQQREEELR EILTELEAKS ETRQENYWLI
560 570 580 590 600
QYQRLLNQKP LSLKLQEEGM ERQLVALLEE LSAEHYLPIF AHHRLSLDLL
610 620 630 640 650
SQMSPGDLAK VGVSEAGLQH EILRRVQELL DAARIQPELK PPMGEVVTPT
660 670 680 690 700
APQEPPESVR PSAPPAELEV QASECVVCLE REAQMIFLNC GHVCCCQQCC
710 720
QPLRTCPLCR QDIAQRLRIY HSS
Length:723
Mass (Da):83,594
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4A59461C92467BB1
GO
Isoform 2 (identifier: Q6UWE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-500: Missing.

Show »
Length:696
Mass (Da):80,428
Checksum:iFA5BF4FF6584DBA0
GO
Isoform 3 (identifier: Q6UWE0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-420: Missing.

Note: No experimental confirmation available.
Show »
Length:303
Mass (Da):35,069
Checksum:iA92853EEC27F0B12
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti385V → F in BAB71119 (PubMed:14702039).Curated1
Sequence conflicti402I → V in BAC03703 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021051318N → D1 PublicationCorresponds to variant dbSNP:rs1539567EnsemblClinVar.1
Natural variantiVAR_077460694C → R in CMT2P; abolishes interaction with FUS. 1 PublicationCorresponds to variant dbSNP:rs759312530EnsemblClinVar.1
Natural variantiVAR_077461694C → Y in CMT2P; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886041051EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0126601 – 420Missing in isoform 3. 1 PublicationAdd BLAST420
Alternative sequenceiVSP_012661474 – 500Missing in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY358830 mRNA Translation: AAQ89189.1
AK056203 mRNA Translation: BAB71119.1
AK056305 mRNA Translation: BAB71144.1
AK091589 mRNA Translation: BAC03703.1
AL445222 Genomic DNA No translation available.
BC009239 mRNA Translation: AAH09239.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS55347.1 [Q6UWE0-2]
CCDS6873.1 [Q6UWE0-1]

NCBI Reference Sequences

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RefSeqi
NP_001005373.1, NM_001005373.3 [Q6UWE0-1]
NP_001005374.1, NM_001005374.3 [Q6UWE0-1]
NP_001177652.1, NM_001190723.2 [Q6UWE0-2]
NP_612370.3, NM_138361.5 [Q6UWE0-1]
XP_016870772.1, XM_017015283.1 [Q6UWE0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000300417; ENSP00000300417; ENSG00000148356 [Q6UWE0-1]
ENST00000323301; ENSP00000322937; ENSG00000148356 [Q6UWE0-1]
ENST00000373322; ENSP00000362419; ENSG00000148356 [Q6UWE0-1]
ENST00000373324; ENSP00000362421; ENSG00000148356 [Q6UWE0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
90678

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:90678

UCSC genome browser

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UCSCi
uc004brb.2 human [Q6UWE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358830 mRNA Translation: AAQ89189.1
AK056203 mRNA Translation: BAB71119.1
AK056305 mRNA Translation: BAB71144.1
AK091589 mRNA Translation: BAC03703.1
AL445222 Genomic DNA No translation available.
BC009239 mRNA Translation: AAH09239.1
CCDSiCCDS55347.1 [Q6UWE0-2]
CCDS6873.1 [Q6UWE0-1]
RefSeqiNP_001005373.1, NM_001005373.3 [Q6UWE0-1]
NP_001005374.1, NM_001005374.3 [Q6UWE0-1]
NP_001177652.1, NM_001190723.2 [Q6UWE0-2]
NP_612370.3, NM_138361.5 [Q6UWE0-1]
XP_016870772.1, XM_017015283.1 [Q6UWE0-1]

3D structure databases

SMRiQ6UWE0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124754, 56 interactors
ELMiQ6UWE0
IntActiQ6UWE0, 41 interactors
MINTiQ6UWE0
STRINGi9606.ENSP00000322937

Protein family/group databases

MoonDBiQ6UWE0 Predicted

PTM databases

iPTMnetiQ6UWE0
PhosphoSitePlusiQ6UWE0

Polymorphism and mutation databases

BioMutaiLRSAM1
DMDMi62511890

Proteomic databases

EPDiQ6UWE0
jPOSTiQ6UWE0
MaxQBiQ6UWE0
PaxDbiQ6UWE0
PeptideAtlasiQ6UWE0
PRIDEiQ6UWE0
ProteomicsDBi67465
67466 [Q6UWE0-2]
67467 [Q6UWE0-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300417; ENSP00000300417; ENSG00000148356 [Q6UWE0-1]
ENST00000323301; ENSP00000322937; ENSG00000148356 [Q6UWE0-1]
ENST00000373322; ENSP00000362419; ENSG00000148356 [Q6UWE0-1]
ENST00000373324; ENSP00000362421; ENSG00000148356 [Q6UWE0-2]
GeneIDi90678
KEGGihsa:90678
UCSCiuc004brb.2 human [Q6UWE0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
90678
DisGeNETi90678

GeneCards: human genes, protein and diseases

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GeneCardsi
LRSAM1
GeneReviewsiLRSAM1
HGNCiHGNC:25135 LRSAM1
HPAiCAB037304
HPA021403
HPA021844
MalaCardsiLRSAM1
MIMi610933 gene
614436 phenotype
neXtProtiNX_Q6UWE0
OpenTargetsiENSG00000148356
Orphaneti300319 Charcot-Marie-Tooth disease type 2P
PharmGKBiPA134890010

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00930000151044
HOGENOMiHOG000231972
InParanoidiQ6UWE0
KOiK10641
OMAiETKQENY
OrthoDBi1310488at2759
PhylomeDBiQ6UWE0
TreeFamiTF329645

Enzyme and pathway databases

UniPathwayiUPA00143
ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
LRSAM1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LRSAM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
90678

Protein Ontology

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PROi
PR:Q6UWE0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148356 Expressed in 142 organ(s), highest expression level in apex of heart
ExpressionAtlasiQ6UWE0 baseline and differential
GenevisibleiQ6UWE0 HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
3.30.40.10, 1 hit
3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF13855 LRR_8, 1 hit
PF07647 SAM_2, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 4 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 4 hits
PS50105 SAM_DOMAIN, 1 hit
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLRSM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6UWE0
Secondary accession number(s): Q5VVV0
, Q8NB40, Q96GT5, Q96MX5, Q96MZ7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: July 5, 2004
Last modified: June 5, 2019
This is version 161 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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