LMOD3

LMOD3
Identifiers
Aliases	LMOD3 , NEM10, leiomodin 3
External IDs	OMIM: 616112; MGI: 2444169; HomoloGene: 28097; GeneCards: LMOD3; OMA:LMOD3 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3p14.1 Start 69,106,065 bp [1] End 69,123,032 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 D3 Start 97,215,495 bp [2] End 97,229,720 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in biceps brachii vastus lateralis muscle skeletal muscle tissue Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii muscle of thigh deltoid muscle gastrocnemius muscle myocardium of left ventricle tibialis anterior muscle Top expressed in soleus muscle intercostal muscle tibialis anterior muscle sternocleidomastoid muscle medial head of gastrocnemius muscle temporal muscle quadriceps femoris muscle ankle digastric muscle vastus lateralis muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin monomer binding tropomyosin binding Cellular component cytoskeleton A band cytoplasm striated muscle thin filament M band myofibril Biological process pointed-end actin filament capping skeletal muscle fiber development muscle contraction actin filament organization myofibril assembly striated muscle contraction skeletal muscle thin filament assembly actin nucleation positive regulation of skeletal muscle fiber development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56203 320502 Ensembl ENSG00000163380 ENSMUSG00000044086 UniProt Q0VAK6 E9QA62 RefSeq (mRNA) NM_198271 NM_001304418 NM_001081157 RefSeq (protein) NP_001291347 NP_938012 NP_001074626 Location (UCSC) Chr 3: 69.11 – 69.12 Mb Chr 6: 97.22 – 97.23 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Leiomodin-3 is a protein that in humans is encoded by the LMOD3 gene. ^{[5] [6]} Leiomodin-3 is especially present at the pointed end of muscle thin filaments. ^[7]

Clinical significance

Dysfunction is associated with thin filament disorganisation and nemaline myopathy. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000163380 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000044086 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: LMOD3 leiomodin 3 (fetal)".
6. Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC (June 2015). "The evolution of compositionally and functionally distinct actin filaments". Journal of Cell Science. 128 (11): 2009–19. doi: 10.1242/jcs.165563 . PMID   25788699.
7. Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG (November 2015). "Clinical utility gene card for: Nemaline myopathy - update 2015". European Journal of Human Genetics. 23 (11): 4–5. doi:10.1038/ejhg.2015.12. PMC   4613474 . PMID   25712079.
8. Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, et al. (November 2014). "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy". The Journal of Clinical Investigation. 124 (11): 4693–708. doi:10.1172/JCI75199. PMC   4347224 . PMID   25250574.

Further reading

• Lane HY, Liu YC, Huang CL, Chang YC, Wu PL, Lu CT, Chang WH (April 2006). "Risperidone-related weight gain: genetic and nongenetic predictors". Journal of Clinical Psychopharmacology. 26 (2): 128–34. doi:10.1097/01.jcp.0000203196.65710.2b. PMID   16633140. S2CID   34821033.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.