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Protein

Leiomodin-3

Gene

LMOD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Leiomodin-3
Alternative name(s):
Leiomodin, fetal form
Gene namesi
Name:LMOD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:6649. LMOD3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

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
Natural variantiVAR_072643326G → R in NEM10. 1 Publication1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNETi56203.
MalaCardsiLMOD3.
MIMi616165. phenotype.
OpenTargetsiENSG00000163380.
Orphaneti171430. Severe congenital nemaline myopathy.
PharmGKBiPA30415.

Polymorphism and mutation databases

BioMutaiLMOD3.
DMDMi118572771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002611751 – 560Leiomodin-3Add BLAST560

Proteomic databases

EPDiQ0VAK6.
MaxQBiQ0VAK6.
PaxDbiQ0VAK6.
PRIDEiQ0VAK6.

PTM databases

iPTMnetiQ0VAK6.
PhosphoSitePlusiQ0VAK6.

Expressioni

Tissue specificityi

Expressed in cardiac and at higher levels in skeletal muscles (at protein level).1 Publication

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

BgeeiENSG00000163380.
CleanExiHS_LMOD3.
GenevisibleiQ0VAK6. HS.

Organism-specific databases

HPAiHPA036034.

Interactioni

Subunit structurei

May interact with tropomyosin alpha (TPM1/2) N-terminus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121107. 1 interactor.
MINTiMINT-4725811.
STRINGi9606.ENSP00000414670.

Structurei

3D structure databases

ProteinModelPortaliQ0VAK6.
SMRiQ0VAK6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini534 – 553WH2PROSITE-ProRule annotationAdd BLAST20

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 49Interaction with tropomyosin alpha1 PublicationAdd BLAST49

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili16 – 42Sequence analysisAdd BLAST27
Coiled coili386 – 425Sequence analysisAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi86 – 179Glu-richAdd BLAST94
Compositional biasi449 – 457Poly-Pro9

Sequence similaritiesi

Belongs to the tropomodulin family.Curated
Contains 1 WH2 domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3735. Eukaryota.
ENOG410YAHM. LUCA.
GeneTreeiENSGT00760000119226.
HOGENOMiHOG000261624.
HOVERGENiHBG079700.
InParanoidiQ0VAK6.
OMAiYMYWQKA.
OrthoDBiEOG091G0C3H.
PhylomeDBiQ0VAK6.
TreeFamiTF315841.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR030131. LMOD3.
IPR004934. TMOD.
[Graphical view]
PANTHERiPTHR10901. PTHR10901. 1 hit.
PTHR10901:SF3. PTHR10901:SF3. 1 hit.
PfamiPF03250. Tropomodulin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 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
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

Sequence cautioni

The sequence AAH39202 differs from that shown.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs35740823dbSNPEnsembl.1
Natural variantiVAR_052401263I → T.Corresponds to variant rs9835034dbSNPEnsembl.1
Natural variantiVAR_072643326G → R in NEM10. 1 Publication1
Natural variantiVAR_034083438K → M.Corresponds to variant rs6810145dbSNPEnsembl.1
Natural variantiVAR_029088560A → V.Corresponds to variant rs17005363dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
SMRiQ0VAK6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121107. 1 interactor.
MINTiMINT-4725811.
STRINGi9606.ENSP00000414670.

PTM databases

iPTMnetiQ0VAK6.
PhosphoSitePlusiQ0VAK6.

Polymorphism and mutation databases

BioMutaiLMOD3.
DMDMi118572771.

Proteomic databases

EPDiQ0VAK6.
MaxQBiQ0VAK6.
PaxDbiQ0VAK6.
PRIDEiQ0VAK6.

Protocols and materials databases

DNASUi56203.
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

CTDi56203.
DisGeNETi56203.
GeneCardsiLMOD3.
H-InvDBHIX0003444.
HGNCiHGNC:6649. LMOD3.
HPAiHPA036034.
MalaCardsiLMOD3.
MIMi616112. gene.
616165. phenotype.
neXtProtiNX_Q0VAK6.
OpenTargetsiENSG00000163380.
Orphaneti171430. Severe congenital nemaline myopathy.
PharmGKBiPA30415.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3735. Eukaryota.
ENOG410YAHM. LUCA.
GeneTreeiENSGT00760000119226.
HOGENOMiHOG000261624.
HOVERGENiHBG079700.
InParanoidiQ0VAK6.
OMAiYMYWQKA.
OrthoDBiEOG091G0C3H.
PhylomeDBiQ0VAK6.
TreeFamiTF315841.

Miscellaneous databases

GeneWikiiLMOD3.
GenomeRNAii56203.
PROiQ0VAK6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163380.
CleanExiHS_LMOD3.
GenevisibleiQ0VAK6. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR030131. LMOD3.
IPR004934. TMOD.
[Graphical view]
PANTHERiPTHR10901. PTHR10901. 1 hit.
PTHR10901:SF3. PTHR10901:SF3. 1 hit.
PfamiPF03250. Tropomodulin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLMOD3_HUMAN
AccessioniPrimary (citable) accession number: Q0VAK6
Secondary accession number(s): B4DT85
, Q0JTT2, Q5JPG6, Q8IUK4, Q96LS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: September 5, 2006
Last modified: November 2, 2016
This is version 87 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.