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MYH14

Summary

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

MYH14
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYH14, DFNA4, DFNA4A, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin, FP17425, myosin, heavy chain 14, non-muscle, myosin heavy chain 14
External IDsOMIM: 608568 MGI: 1919210 HomoloGene: 23480 GeneCards: MYH14
Orthologs
SpeciesHumanMouse
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 MbChr 7: 44.26 – 44.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105357 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: MYH14 myosin, heavy chain 14".

Further reading edit

  • 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 edit

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