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{{Infobox_gene}}
{{PBB_Controls
'''Cytoplasmic dynein 1 heavy chain 1''' is a [[protein]] that in humans is encoded by the ''DYNC1H1'' [[gene]].<ref name="pmid16260502">{{cite journal | vauthors = Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB | title = Cytoplasmic dynein nomenclature | journal = J Cell Biol | volume = 171 | issue = 3 | pages = 411–3 |date=November 2005 | pmid = 16260502 | pmc = 2171247 | doi = 10.1083/jcb.200508078 }}</ref><ref name="pmid8666668">{{cite journal | vauthors = Vaisberg EA, Grissom PM, McIntosh JR | title = Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles | journal = J Cell Biol | volume = 133 | issue = 4 | pages = 831–42 |date=August 1996 | pmid = 8666668 | pmc = 2120833 | doi =10.1083/jcb.133.4.831 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1778| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Dynein, cytoplasmic 1, heavy chain 1
| HGNCid = 2961
| Symbol = DYNC1H1
| AltSymbols =; DHC1; DHC1a; DKFZp686P2245; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; KIAA0325; p22
| OMIM = 600112
| ECnumber =
| Homologene = 1053
| MGIid = 103147
| GeneAtlas_image1 = PBB_GE_DYNC1H1_211928_at_tn.png
| GeneAtlas_image2 = PBB_GE_DYNC1H1_gnf1h10152_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003777 |text = microtubule motor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0042623 |text = ATPase activity, coupled}}
| Component = {{GNF_GO|id=GO:0005868 |text = cytoplasmic dynein complex}} {{GNF_GO|id=GO:0005874 |text = microtubule}} {{GNF_GO|id=GO:0030286 |text = dynein complex}}
| Process = {{GNF_GO|id=GO:0007018 |text = microtubule-based movement}} {{GNF_GO|id=GO:0007052 |text = mitotic spindle organization and biogenesis}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1778
    | Hs_Ensembl = ENSG00000197102
    | Hs_RefseqProtein = NP_001367
    | Hs_RefseqmRNA = NM_001376
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 101500737
    | Hs_GenLoc_end = 101586887
    | Hs_Uniprot = Q14204
    | Mm_EntrezGene = 13424
    | Mm_Ensembl = ENSMUSG00000018707
    | Mm_RefseqmRNA = NM_030238
    | Mm_RefseqProtein = NP_084514
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 111049259
    | Mm_GenLoc_end = 111114731
    | Mm_Uniprot = O08821
  }}
}}
'''Dynein, cytoplasmic 1, heavy chain 1''', also known as '''DYNC1H1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1778| accessdate = }}</ref>


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}}
}}
==Interactions==
DYNC1H1 has been shown to [[Protein-protein interaction|interact]] with [[PAFAH1B1]]<ref name=pmid11889140>{{cite journal |last=Tai |first=Chin-Yin |author2=Dujardin Denis L |author3=Faulkner Nicole E |author4=Vallee Richard B  |date=March 2002  |title=Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function |journal=J. Cell Biol. |volume=156 |issue=6 |pages=959–68 |publisher= |location = United States| issn = 0021-9525| pmid = 11889140 |doi = 10.1083/jcb.200109046 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=2173479 }}</ref> and [[CDC5L]].<ref name=pmid11101529>{{cite journal |last=Ajuh |first=P |author2=Kuster B |author3=Panov K |author4=Zomerdijk J C |author5=Mann M |author6=Lamond A I  |date=December 2000  |title=Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry |journal=EMBO J. |volume=19 |issue=23 |pages=6569–81 |publisher= |location = ENGLAND| issn = 0261-4189| pmid = 11101529 |doi = 10.1093/emboj/19.23.6569 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=305846 }}</ref>
==Clinical relevance==
Mutations in this gene have been shown to cause dominant axonal [[Charcot-Marie-Tooth]] disease<ref name="pmid21820100">{{cite journal | vauthors = Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S | title = Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease | journal = Am. J. Hum. Genet. | volume = 89 | issue = 2 | pages = 308–12 |date=August 2011 | pmid = 21820100 | pmc = 3155164 | doi = 10.1016/j.ajhg.2011.07.002 }}</ref> as well as [[spinal muscular atrophy with lower extremity predominance]] (SMA-LED).<ref>{{cite journal | vauthors = Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH | year = 2012 | title = Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy | journal = Neurology | volume = 78 | issue = 16 | pages =  | doi = 10.1212/WNL.0b013e3182556c05 | pmid = 22459677 | url =  | format =  | accessdate = | pmc = 3359582}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Narayan D, Desai T, Banks A, ''et al.'' |title=Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization. |journal=Genomics |volume=22 |issue= 3 |pages= 660-1 |year= 1995 |pmid= 8001984 |doi= 10.1006/geno.1994.1447 }}
*{{cite journal  | vauthors=Narayan D, Desai T, Banks A |title=Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization. |journal=Genomics |volume=22 |issue= 3 |pages= 660–1 |year= 1995 |pmid= 8001984 |doi= 10.1006/geno.1994.1447 |display-authors=etal}}
*{{cite journal  | author=Vaisberg EA, Koonce MP, McIntosh JR |title=Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. |journal=J. Cell Biol. |volume=123 |issue= 4 |pages= 849-58 |year= 1993 |pmid= 8227145 |doi=  }}
*{{cite journal  | vauthors=Vaisberg EA, Koonce MP, McIntosh JR |title=Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. |journal=J. Cell Biol. |volume=123 |issue= 4 |pages= 849–58 |year= 1993 |pmid= 8227145 |doi=10.1083/jcb.123.4.849  | pmc=2200153 }}
*{{cite journal  | author=Vaisberg EA, Grissom PM, McIntosh JR |title=Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. |journal=J. Cell Biol. |volume=133 |issue= 4 |pages= 831-42 |year= 1996 |pmid= 8666668 |doi= }}
*{{cite journal  | vauthors=Vaughan KT, Mikami A, Paschal BM |title=Multiple mouse chromosomal loci for dynein-based motility. |journal=Genomics |volume=36 |issue= 1 |pages= 29–38 |year= 1997 |pmid= 8812413 |doi= 10.1006/geno.1996.0422 |display-authors=etal}}
*{{cite journal  | author=Vaughan KT, Mikami A, Paschal BM, ''et al.'' |title=Multiple mouse chromosomal loci for dynein-based motility. |journal=Genomics |volume=36 |issue= 1 |pages= 29-38 |year= 1997 |pmid= 8812413 |doi= 10.1006/geno.1996.0422 }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791  }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  | vauthors=Nagase T, Ishikawa K, Nakajima D |title=Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=4 |issue= 2 |pages= 141–50 |year= 1997 |pmid= 9205841 |doi=10.1093/dnares/4.2.141 |display-authors=etal}}
*{{cite journal  | author=Nagase T, Ishikawa K, Nakajima D, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=4 |issue= 2 |pages= 141-50 |year= 1997 |pmid= 9205841 |doi=  }}
*{{cite journal  | vauthors=Neesen J, Koehler MR, Kirschner R |title=Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. |journal=Gene |volume=200 |issue= 1-2 |pages= 193–202 |year= 1997 |pmid= 9373155 |doi=10.1016/S0378-1119(97)00417-4 |display-authors=etal}}
*{{cite journal  | author=Neesen J, Koehler MR, Kirschner R, ''et al.'' |title=Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. |journal=Gene |volume=200 |issue= 1-2 |pages= 193-202 |year= 1997 |pmid= 9373155 |doi= }}
*{{cite journal  | vauthors=Byers HR, Yaar M, Eller MS |title=Role of cytoplasmic dynein in melanosome transport in human melanocytes. |journal=J. Invest. Dermatol. |volume=114 |issue= 5 |pages= 990–7 |year= 2000 |pmid= 10771482 |doi= 10.1046/j.1523-1747.2000.00957.x |display-authors=etal}}
*{{cite journal  | author=Byers HR, Yaar M, Eller MS, ''et al.'' |title=Role of cytoplasmic dynein in melanosome transport in human melanocytes. |journal=J. Invest. Dermatol. |volume=114 |issue= 5 |pages= 990-7 |year= 2000 |pmid= 10771482 |doi= 10.1046/j.1523-1747.2000.00957.x }}
*{{cite journal  | vauthors=Habermann A, Schroer TA, Griffiths G, Burkhardt JK |title=Immunolocalization of cytoplasmic dynein and dynactin subunits in cultured macrophages: enrichment on early endocytic organelles. |journal=J. Cell Sci. |volume=114 |issue= Pt 1 |pages= 229–240 |year= 2001 |pmid= 11112706 |doi= }}
*{{cite journal  | author=Habermann A, Schroer TA, Griffiths G, Burkhardt JK |title=Immunolocalization of cytoplasmic dynein and dynactin subunits in cultured macrophages: enrichment on early endocytic organelles. |journal=J. Cell. Sci. |volume=114 |issue= Pt 1 |pages= 229-240 |year= 2001 |pmid= 11112706 |doi= }}
*{{cite journal  | vauthors=Sasaki S, Shionoya A, Ishida M |title=A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. |journal=Neuron |volume=28 |issue= 3 |pages= 681–96 |year= 2001 |pmid= 11163259 |doi=10.1016/S0896-6273(00)00146-X  |display-authors=etal}}
*{{cite journal  | author=Sasaki S, Shionoya A, Ishida M, ''et al.'' |title=A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. |journal=Neuron |volume=28 |issue= 3 |pages= 681-96 |year= 2001 |pmid= 11163259 |doi= }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal|bibcode=2002PNAS...9916899M }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Payne C, Rawe V, Ramalho-Santos J |title=Preferentially localized dynein and perinuclear dynactin associate with nuclear pore complex proteins to mediate genomic union during mammalian fertilization. |journal=J. Cell Sci. |volume=116 |issue= Pt 23 |pages= 4727–38 |year= 2004 |pmid= 14600259 |doi= 10.1242/jcs.00784 |display-authors=etal}}
*{{cite journal  | author=Payne C, Rawe V, Ramalho-Santos J, ''et al.'' |title=Preferentially localized dynein and perinuclear dynactin associate with nuclear pore complex proteins to mediate genomic union during mammalian fertilization. |journal=J. Cell. Sci. |volume=116 |issue= Pt 23 |pages= 4727-38 |year= 2004 |pmid= 14600259 |doi= 10.1242/jcs.00784 }}
*{{cite journal  | vauthors=Byers HR, Maheshwary S, Amodeo DM, Dykstra SG |title=Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes. |journal=J. Invest. Dermatol. |volume=121 |issue= 4 |pages= 813–20 |year= 2003 |pmid= 14632200 |doi= 10.1046/j.1523-1747.2003.12481.x }}
*{{cite journal  | author=Byers HR, Maheshwary S, Amodeo DM, Dykstra SG |title=Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes. |journal=J. Invest. Dermatol. |volume=121 |issue= 4 |pages= 813-20 |year= 2003 |pmid= 14632200 |doi= 10.1046/j.1523-1747.2003.12481.x }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Navarro-Lérida I, Martínez Moreno M, Roncal F |title=Proteomic identification of brain proteins that interact with dynein light chain LC8. |journal=Proteomics |volume=4 |issue= 2 |pages= 339–46 |year= 2004 |pmid= 14760703 |doi= 10.1002/pmic.200300528 |display-authors=etal}}
*{{cite journal  | author=Navarro-Lérida I, Martínez Moreno M, Roncal F, ''et al.'' |title=Proteomic identification of brain proteins that interact with dynein light chain LC8. |journal=Proteomics |volume=4 |issue= 2 |pages= 339-46 |year= 2004 |pmid= 14760703 |doi= 10.1002/pmic.200300528 }}
*{{cite journal  | vauthors=Colland F, Jacq X, Trouplin V |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104  | pmc=442148 |display-authors=etal}}
*{{cite journal  | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
*{{cite journal  | vauthors=Jin J, Smith FD, Stark C |title=Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. |journal=Curr. Biol. |volume=14 |issue= 16 |pages= 1436–50 |year= 2004 |pmid= 15324660 |doi= 10.1016/j.cub.2004.07.051 |display-authors=etal}}
*{{cite journal  | author=Jin J, Smith FD, Stark C, ''et al.'' |title=Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. |journal=Curr. Biol. |volume=14 |issue= 16 |pages= 1436-50 |year= 2004 |pmid= 15324660 |doi= 10.1016/j.cub.2004.07.051 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Andersen JS, Lam YW, Leung AK |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77–83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 |display-authors=etal|bibcode=2005Natur.433...77A }}
*{{cite journal  | author=Andersen JS, Lam YW, Leung AK, ''et al.'' |title=Nucleolar proteome dynamics. |journal=Nature |volume=433 |issue= 7021 |pages= 77-83 |year= 2005 |pmid= 15635413 |doi= 10.1038/nature03207 }}
*{{cite journal  | author=Pfister KK, Fisher EM, Gibbons IR, ''et al.'' |title=Cytoplasmic dynein nomenclature. |journal=J. Cell Biol. |volume=171 |issue= 3 |pages= 411-3 |year= 2006 |pmid= 16260502 |doi= 10.1083/jcb.200508078 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 06:25, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[1][2][3]


Interactions

DYNC1H1 has been shown to interact with PAFAH1B1[4] and CDC5L.[5]

Clinical relevance

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[6] as well as spinal muscular atrophy with lower extremity predominance (SMA-LED).[7]

References

  1. Pfister KK, Fisher EM, Gibbons IR, Hays TS, Holzbaur EL, McIntosh JR, Porter ME, Schroer TA, Vaughan KT, Witman GB, King SM, Vallee RB (November 2005). "Cytoplasmic dynein nomenclature". J Cell Biol. 171 (3): 411–3. doi:10.1083/jcb.200508078. PMC 2171247. PMID 16260502.
  2. Vaisberg EA, Grissom PM, McIntosh JR (August 1996). "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles". J Cell Biol. 133 (4): 831–42. doi:10.1083/jcb.133.4.831. PMC 2120833. PMID 8666668.
  3. "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1".
  4. Tai, Chin-Yin; Dujardin Denis L; Faulkner Nicole E; Vallee Richard B (March 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". J. Cell Biol. United States. 156 (6): 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479. PMID 11889140.
  5. Ajuh, P; Kuster B; Panov K; Zomerdijk J C; Mann M; Lamond A I (December 2000). "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry". EMBO J. ENGLAND. 19 (23): 6569–81. doi:10.1093/emboj/19.23.6569. ISSN 0261-4189. PMC 305846. PMID 11101529.
  6. Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S (August 2011). "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease". Am. J. Hum. Genet. 89 (2): 308–12. doi:10.1016/j.ajhg.2011.07.002. PMC 3155164. PMID 21820100.
  7. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology. 78 (16). doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.

Further reading