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Protein

Leiomodin-3

Gene

LMOD3

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

Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).1 Publication

<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

  • actin monomer binding Source: UniProtKB
  • tropomyosin binding Source: UniProtKB

GO - Biological processi

<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:
Leiomodin-3
Alternative name(s):
Leiomodin, fetal form
<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:LMOD3
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163380.15

Human Gene Nomenclature Database

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HGNCi
HGNC:6649 LMOD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616112 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q0VAK6

<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; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<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

Nemaline myopathy 10 (NEM10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.
See also OMIM:616165
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_072643326G → R in NEM10. 1 Publication1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
56203

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

More...
GeneReviewsi
LMOD3

MalaCards human disease database

More...
MalaCardsi
LMOD3
MIMi616165 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163380

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

More...
Orphaneti
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30415

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LMOD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
118572771

<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_00002611751 – 560Leiomodin-3Add BLAST560

<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

Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q0VAK6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q0VAK6

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

More...
PaxDbi
Q0VAK6

PeptideAtlas

More...
PeptideAtlasi
Q0VAK6

PRoteomics IDEntifications database

More...
PRIDEi
Q0VAK6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58797
58798 [Q0VAK6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q0VAK6

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

More...
PhosphoSitePlusi
Q0VAK6

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed soon after the start of myoblast differentiation and in skeletal muscle throughout life from at least 14 weeks gestation (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000163380 Expressed in 107 organ(s), highest expression level in biceps brachii

CleanEx database of gene expression profiles

More...
CleanExi
HS_LMOD3

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q0VAK6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036034

<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

May interact with tropomyosin alpha (TPM1/2) N-terminus (PubMed:25250574). Interacts with KLHL40; leading to stabilization (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121107, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000414670

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q0VAK6

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 <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>Domaini534 – 553WH2PROSITE-ProRule annotationAdd BLAST20

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 49Interaction with tropomyosin alpha1 PublicationAdd BLAST49

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 coili16 – 42Sequence analysisAdd BLAST27
Coiled coili386 – 425Sequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi86 – 179Glu-richAdd BLAST94
Compositional biasi449 – 457Poly-Pro9

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the tropomodulin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3735 Eukaryota
ENOG410YAHM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159731

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261624

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG079700

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q0VAK6

KEGG Orthology (KO)

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KOi
K22030

Identification of Orthologs from Complete Genome Data

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OMAi
NKRESKG

Database of Orthologous Groups

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OrthoDBi
EOG091G0C3H

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q0VAK6

TreeFam database of animal gene trees

More...
TreeFami
TF315841

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030131 LMOD3
IPR032675 LRR_dom_sf
IPR004934 TMOD

The PANTHER Classification System

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PANTHERi
PTHR10901 PTHR10901, 1 hit
PTHR10901:SF3 PTHR10901:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03250 Tropomodulin, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)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 2 <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: Q0VAK6-1) [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
MSEHSRNSDQ EELLDEEINE DEILANLSAE ELKELQSEME VMAPDPSLPV
60 70 80 90 100
GMIQKDQTDK PPTGNFNHKS LVDYMYWEKA SRRMLEEERV PVTFVKSEEK
110 120 130 140 150
TQEEHEEIEK RNKNMAQYLK EKLNNEIVAN KRESKGSSNI QETDEEDEEE
160 170 180 190 200
EDDDDDDEGE DDGEESEETN REEEGKAKEQ IRNCENNCQQ VTDKAFKEQR
210 220 230 240 250
DRPEAQEQSE KKISKLDPKK LALDTSFLKV STRPSGNQTD LDGSLRRVRK
260 270 280 290 300
NDPDMKELNL NNIENIPKEM LLDFVNAMKK NKHIKTFSLA NVGADENVAF
310 320 330 340 350
ALANMLRENR SITTLNIESN FITGKGIVAI MRCLQFNETL TELRFHNQRH
360 370 380 390 400
MLGHHAEMEI ARLLKANNTL LKMGYHFELP GPRMVVTNLL TRNQDKQRQK
410 420 430 440 450
RQEEQKQQQL KEQKKLIAML ENGLGLPPGM WELLGGPKPD SRMQEFFQPP
460 470 480 490 500
PPRPPNPQNV PFSQRSEMMK KPSQAPKYRT DPDSFRVVKL KRIQRKSRMP
510 520 530 540 550
EAREPPEKTN LKDVIKTLKP VPRNRPPPLV EITPRDQLLN DIRHSSVAYL
560
KPVQLPKELA
Length:560
Mass (Da):64,914
Last modified:September 5, 2006 - 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:i762412021EDEDE08
GO
Isoform 2 (identifier: Q0VAK6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.
     101-122: Missing.
     443-444: MQ → IA
     445-560: Missing.

Note: No experimental confirmation available.
Show »
Length:348
Mass (Da):40,194
Checksum:i6D05E271D460B087
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH39202 differs from that shown.Curated

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 conflicti213I → V in CAL38080 (PubMed:17974005).Curated1
Sequence conflicti226S → G in CAI46110 (PubMed:17974005).Curated1
Sequence conflicti301A → V in CAL38080 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06186383R → H. Corresponds to variant dbSNP:rs35740823EnsemblClinVar.1
Natural variantiVAR_052401263I → T. Corresponds to variant dbSNP:rs9835034EnsemblClinVar.1
Natural variantiVAR_072643326G → R in NEM10. 1 Publication1
Natural variantiVAR_034083438K → M. Corresponds to variant dbSNP:rs6810145EnsemblClinVar.1
Natural variantiVAR_029088560A → V. Corresponds to variant dbSNP:rs17005363EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0216641 – 74Missing in isoform 2. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_021665101 – 122Missing in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_021666443 – 444MQ → IA in isoform 2. 1 Publication2
Alternative sequenceiVSP_021667445 – 560Missing in isoform 2. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK057852 mRNA Translation: BAB71596.1
AK300096 mRNA Translation: BAG61897.1
AL832709 mRNA Translation: CAI46110.1
AM393202 mRNA Translation: CAL38080.1
BC039202 mRNA Translation: AAH39202.1 Sequence problems.
BC121019 mRNA Translation: AAI21020.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS46862.1 [Q0VAK6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001291347.1, NM_001304418.1 [Q0VAK6-1]
NP_938012.2, NM_198271.4 [Q0VAK6-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.350621

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000420581; ENSP00000414670; ENSG00000163380 [Q0VAK6-1]
ENST00000475434; ENSP00000418645; ENSG00000163380 [Q0VAK6-1]
ENST00000489031; ENSP00000417210; ENSG00000163380 [Q0VAK6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56203

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56203

UCSC genome browser

More...
UCSCi
uc003dns.3 human [Q0VAK6-1]

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
AK057852 mRNA Translation: BAB71596.1
AK300096 mRNA Translation: BAG61897.1
AL832709 mRNA Translation: CAI46110.1
AM393202 mRNA Translation: CAL38080.1
BC039202 mRNA Translation: AAH39202.1 Sequence problems.
BC121019 mRNA Translation: AAI21020.1
CCDSiCCDS46862.1 [Q0VAK6-1]
RefSeqiNP_001291347.1, NM_001304418.1 [Q0VAK6-1]
NP_938012.2, NM_198271.4 [Q0VAK6-1]
UniGeneiHs.350621

3D structure databases

ProteinModelPortaliQ0VAK6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121107, 1 interactor
STRINGi9606.ENSP00000414670

PTM databases

iPTMnetiQ0VAK6
PhosphoSitePlusiQ0VAK6

Polymorphism and mutation databases

BioMutaiLMOD3
DMDMi118572771

Proteomic databases

EPDiQ0VAK6
MaxQBiQ0VAK6
PaxDbiQ0VAK6
PeptideAtlasiQ0VAK6
PRIDEiQ0VAK6
ProteomicsDBi58797
58798 [Q0VAK6-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56203
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420581; ENSP00000414670; ENSG00000163380 [Q0VAK6-1]
ENST00000475434; ENSP00000418645; ENSG00000163380 [Q0VAK6-1]
ENST00000489031; ENSP00000417210; ENSG00000163380 [Q0VAK6-1]
GeneIDi56203
KEGGihsa:56203
UCSCiuc003dns.3 human [Q0VAK6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56203
DisGeNETi56203
EuPathDBiHostDB:ENSG00000163380.15

GeneCards: human genes, protein and diseases

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GeneCardsi
LMOD3
GeneReviewsiLMOD3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0003444
HGNCiHGNC:6649 LMOD3
HPAiHPA036034
MalaCardsiLMOD3
MIMi616112 gene
616165 phenotype
neXtProtiNX_Q0VAK6
OpenTargetsiENSG00000163380
Orphaneti171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
PharmGKBiPA30415

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3735 Eukaryota
ENOG410YAHM LUCA
GeneTreeiENSGT00940000159731
HOGENOMiHOG000261624
HOVERGENiHBG079700
InParanoidiQ0VAK6
KOiK22030
OMAiNKRESKG
OrthoDBiEOG091G0C3H
PhylomeDBiQ0VAK6
TreeFamiTF315841

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LMOD3

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

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GenomeRNAii
56203

Protein Ontology

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PROi
PR:Q0VAK6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000163380 Expressed in 107 organ(s), highest expression level in biceps brachii
CleanExiHS_LMOD3
GenevisibleiQ0VAK6 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR030131 LMOD3
IPR032675 LRR_dom_sf
IPR004934 TMOD
PANTHERiPTHR10901 PTHR10901, 1 hit
PTHR10901:SF3 PTHR10901:SF3, 1 hit
PfamiView protein in Pfam
PF03250 Tropomodulin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiLMOD3_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: Q0VAK6
Secondary accession number(s): B4DT85
, Q0JTT2, Q5JPG6, Q8IUK4, Q96LS4
<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: November 28, 2006
Last sequence update: September 5, 2006
Last modified: December 5, 2018
This is version 103 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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