MYH14

MYH14
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5JLH
Identifiers
Aliases	MYH14 , DFNA4, DFNA4A, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin, FP17425, myosin, heavy chain 14, non-muscle, myosin heavy chain 14
External IDs	OMIM: 608568 MGI: 1919210 HomoloGene: 23480 GeneCards: MYH14
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.33 Start 50,188,186 bp [1] End 50,310,542 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B3 Start 44,255,227 bp [2] End 44,320,267 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle skin of abdomen minor salivary gland tibialis anterior muscle left lobe of thyroid gland right lobe of thyroid gland left ventricle sural nerve right uterine tube upper lobe of left lung Top expressed in corneal stroma saccule superior surface of tongue left colon duodenum right lung gallbladder right lung lobe crypt of lieberkuhn of small intestine ileum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calmodulin binding actin filament binding microfilament motor activity actin binding cytoskeletal motor activity ATP binding ATPase activity microtubule motor activity microtubule binding Cellular component cytoplasm cytosol myosin II filament membrane growth cone myelin sheath stress fiber axon brush border myosin II complex actomyosin extracellular exosome myosin complex Biological process skeletal muscle contraction actomyosin structure organization sensory perception of sound actin filament-based movement vocalization behavior regulation of cell shape mitochondrion morphogenesis skeletal muscle tissue development neuronal action potential microtubule-based movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79784 71960 Ensembl ENSG00000105357 ENSMUSG00000030739 UniProt Q7Z406 Q6URW6 RefSeq (mRNA) NM_001077186 NM_001145809 NM_024729 NM_001271538 NM_001271540 NM_028021 RefSeq (protein) NP_001070654 NP_001139281 NP_079005 NP_001258467 NP_001258469 NP_082297 Location (UCSC) Chr 19: 50.19 – 50.31 Mb Chr 7: 44.26 – 44.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Myosin-14 is a protein that in humans is encoded by the MYH14 gene. ^{[5] [6] [7]}

This gene encodes a member of the myosin superfamily. Myosins are actin-dependent motor proteins with diverse functions, including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000105357 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030739 - 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. Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, Rautenstrauss B (Aug 2003). "A novel myosin heavy chain gene in human chromosome 19q13.3". Gene. 312: 165–71. doi:10.1016/S0378-1119(03)00613-9. PMID   12909352.
6. Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A (Mar 2004). "Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)". Am J Hum Genet. 74 (4): 770–6. doi:10.1086/383285. PMC   1181955 . PMID   15015131.
7. "Entrez Gene: MYH14 myosin, heavy chain 14".

Further reading

• Chen AH, Ni L, Fukushima K, et al. (1995). "Linkage of a gene for dominant non-syndromic deafness to chromosome 19". Hum. Mol. Genet. 4 (6): 1073–6. doi:10.1093/hmg/4.6.1073. PMID   7655461.
• Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin". Am. J. Pathol. 142 (1): 221–30. PMC   1886840 . PMID   8424456.
• Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver". Proc. Natl. Acad. Sci. U.S.A. 98 (26): 15089–94. Bibcode:2001PNAS...9815089X. doi: 10.1073/pnas.241522398 . PMC   64988 . PMID   11752456.
• Desjardins PR, Burkman JM, Shrager JB, et al. (2002). "Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family". Mol. Biol. Evol. 19 (4): 375–93. doi: 10.1093/oxfordjournals.molbev.a004093 . PMID   11919279.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Golomb E, Ma X, Jana SS, et al. (2004). "Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family". J. Biol. Chem. 279 (4): 2800–8. doi: 10.1074/jbc.M309981200 . PMID   14594953.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi: 10.1073/pnas.0404089101 . PMC   524842 . PMID   15498874.
• Kim KY, Kovács M, Kawamoto S, et al. (2005). "Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C". J. Biol. Chem. 280 (24): 22769–75. doi: 10.1074/jbc.M503488200 . PMID   15845534.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.

External links

• GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview