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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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti326 – 3261G → R in NEM10. 1 Publication
VAR_072643

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiLMOD3.
DMDMi118572771.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 560560Leiomodin-3PRO_0000261175Add
BLAST

Proteomic databases

EPDiQ0VAK6.
PaxDbiQ0VAK6.
PRIDEiQ0VAK6.

PTM databases

iPTMnetiQ0VAK6.
PhosphoSiteiQ0VAK6.

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 interaction.
MINTiMINT-4725811.
STRINGi9606.ENSP00000414670.

Structurei

3D structure databases

ProteinModelPortaliQ0VAK6.
SMRiQ0VAK6. Positions 237-401.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini534 – 55320WH2PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 4949Interaction with tropomyosin alpha1 PublicationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili16 – 4227Sequence analysisAdd
BLAST
Coiled coili386 – 42540Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi86 – 17994Glu-richAdd
BLAST
Compositional biasi449 – 4579Poly-Pro

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti213 – 2131I → V in CAL38080 (PubMed:17974005).Curated
Sequence conflicti226 – 2261S → G in CAI46110 (PubMed:17974005).Curated
Sequence conflicti301 – 3011A → V in CAL38080 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831R → H.
Corresponds to variant rs35740823 [ dbSNP | Ensembl ].
VAR_061863
Natural varianti263 – 2631I → T.
Corresponds to variant rs9835034 [ dbSNP | Ensembl ].
VAR_052401
Natural varianti326 – 3261G → R in NEM10. 1 Publication
VAR_072643
Natural varianti438 – 4381K → M.
Corresponds to variant rs6810145 [ dbSNP | Ensembl ].
VAR_034083
Natural varianti560 – 5601A → V.
Corresponds to variant rs17005363 [ dbSNP | Ensembl ].
VAR_029088

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7474Missing in isoform 2. 1 PublicationVSP_021664Add
BLAST
Alternative sequencei101 – 12222Missing in isoform 2. 1 PublicationVSP_021665Add
BLAST
Alternative sequencei443 – 4442MQ → IA in isoform 2. 1 PublicationVSP_021666
Alternative sequencei445 – 560116Missing in isoform 2. 1 PublicationVSP_021667Add
BLAST

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. Positions 237-401.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ0VAK6.
PhosphoSiteiQ0VAK6.

Polymorphism and mutation databases

BioMutaiLMOD3.
DMDMi118572771.

Proteomic databases

EPDiQ0VAK6.
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.
GeneCardsiLMOD3.
H-InvDBHIX0003444.
HGNCiHGNC:6649. LMOD3.
HPAiHPA036034.
MalaCardsiLMOD3.
MIMi616112. gene.
616165. phenotype.
neXtProtiNX_Q0VAK6.
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: September 7, 2016
This is version 85 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.