DYNC2H1: Difference between revisions

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Latest revision as of 19:47, 8 November 2017

Cytoplasmic dynein 2 heavy chain 1 is a protein that in humans is encoded by the DYNC2H1 gene.^[1]^[2]^[3]

It is associated with Short rib-polydactyly syndrome type 3.^[4]

It is also associated with Asphyxiating thoracic dysplasia.^[5]

References

↑ Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. doi:10.1159/000015085. PMID 9763680.
↑ Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.
↑ "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".
↑ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
↑ Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771.

Gibbons BH, Asai DJ, Tang WJ, et al. (1994). "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins". Mol. Biol. Cell. 5 (1): 57–70. doi:10.1091/mbc.5.1.57. PMC 301009. PMID 8186465.
Vaisberg EA, Grissom PM, McIntosh JR (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.
Criswell PS, Ostrowski LE, Asai DJ (1997). "A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells". J. Cell Sci. 109 (7): 1891–8. PMID 8832411.
Kastury K, Taylor WE, Gutierrez M, et al. (1997). "Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11". Genomics. 44 (3): 362–4. doi:10.1006/geno.1997.4903. PMID 9325061.
Grissom PM, Vaisberg EA, McIntosh JR (2002). "Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2". Mol. Biol. Cell. 13 (3): 817–29. doi:10.1091/mbc.01-08-0402. PMC 99601. PMID 11907264.
Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. doi:10.1093/dnares/9.2.47. PMID 12056414.
Mikami A, Tynan SH, Hama T, et al. (2003). "Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells". J. Cell Sci. 115 (Pt 24): 4801–8. doi:10.1242/jcs.00168. PMID 12432068.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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.
Yokota T, Kouno J, Adachi K, et al. (2006). "Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin". Acta Neuropathol. 111 (1): 29–38. doi:10.1007/s00401-005-1085-6. PMID 16320026.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[pmid9763680-1] Koehler MR, Schmid M, Neesen J (Nov 1998). "Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1". Cytogenet Cell Genet. 82 (1–2): 123–5. doi:10.1159/000015085. PMID 9763680.

[pmid9373155-2] Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M (Dec 1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". Gene. 200 (1–2): 193–202. doi:10.1016/S0378-1119(97)00417-4. PMID 9373155.

[entrez-3] "Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1".

[pmid19361615-4] Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.

[pmid19442771-5] Dagoneau N, Goulet M, Geneviève D, et al. (May 2009). "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III". Am. J. Hum. Genet. 84 (5): 706–11. doi:10.1016/j.ajhg.2009.04.016. PMC 2681009. PMID 19442771.

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[2]

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[4]

[5]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
-{{PBB_Controls
+'''Cytoplasmic dynein 2 heavy chain 1''' is a [[protein]] that in humans is encoded by the ''DYNC2H1'' [[gene]].<ref name="pmid9763680">{{cite journal | vauthors = Koehler MR, Schmid M, Neesen J | title = Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1 | journal = Cytogenet Cell Genet | volume = 82 | issue = 1–2 | pages = 123–5 |date=Nov 1998 | pmid = 9763680 | pmc =  | doi =10.1159/000015085  }}</ref><ref name="pmid9373155">{{cite journal | vauthors = Neesen J, Koehler MR, Kirschner R, Steinlein C, Kreutzberger J, Engel W, Schmid M | 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 |date=Dec 1997 | pmid = 9373155 | pmc =  | doi =10.1016/S0378-1119(97)00417-4  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79659| accessdate = }}</ref>
-| update_page = yes
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+It is associated with [[Short rib-polydactyly syndrome]] type 3.<ref name="pmid19361615">{{cite journal |vauthors=Merrill AE, Merriman B, Farrington-Rock C |title=Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome |journal=Am. J. Hum. Genet. |volume=84 |issue=4 |pages=542–9 |date=April 2009 |pmid=19361615 |pmc=2667993 |doi=10.1016/j.ajhg.2009.03.015 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00112-8|display-authors=etal}}</ref>
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+It is also associated with [[Asphyxiating thoracic dysplasia]].<ref name="pmid19442771">{{cite journal |vauthors=Dagoneau N, Goulet M, Geneviève D |title=DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III |journal=Am. J. Hum. Genet. |volume=84 |issue=5 |pages=706–11 |date=May 2009 |pmid=19442771 |pmc=2681009 |doi=10.1016/j.ajhg.2009.04.016 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00158-X|display-authors=etal}}</ref>
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Dynein, cytoplasmic 2, heavy chain 1
- | HGNCid = 2962
- | Symbol = DYNC2H1
- | AltSymbols =; DHC1b; DHC2; DNCH2; DYH1B; FLJ11756; hdhc11
- | OMIM = 603297
- | ECnumber =
- | Homologene = 14468
- | MGIid = 107736
- | GeneAtlas_image1 = PBB_GE_DYNC2H1_gnf1h02286_at_tn.png
- | GeneAtlas_image2 = PBB_GE_DYNC2H1_gnf1h02290_at_tn.png
- | GeneAtlas_image3 = PBB_GE_DYNC2H1_gnf1h02291_at_tn.png
- | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003774 |text = motor activity}} {{GNF_GO|id=GO:0003777 |text = microtubule motor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042623 |text = ATPase activity, coupled}} {{GNF_GO|id=GO:0042624 |text = ATPase activity, uncoupled}}
- | Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0030286 |text = dynein complex}}
- | Process = {{GNF_GO|id=GO:0007018 |text = microtubule-based movement}} {{GNF_GO|id=GO:0007030 |text = Golgi organization and biogenesis}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 79659
-    | Hs_Ensembl = ENSG00000187240
-    | Hs_RefseqProtein = XP_370652
-    | Hs_RefseqmRNA = XM_370652
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 11
-    | Hs_GenLoc_start = 102485514
-    | Hs_GenLoc_end = 102855521
-    | Hs_Uniprot =
-    | Mm_EntrezGene = 110350
-    | Mm_Ensembl =
-    | Mm_RefseqmRNA = XM_001005686
-    | Mm_RefseqProtein = XP_001005686
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr =
-    | Mm_GenLoc_start =
-    | Mm_GenLoc_end =
-    | Mm_Uniprot =
-  }}
-}}
-'''Dynein, cytoplasmic 2, heavy chain 1''', also known as '''DYNC2H1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYNC2H1 dynein, cytoplasmic 2, heavy chain 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79659| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
@@ Line 55: / Line 11: @@
 | summary_text =
 }}
+==See also==
+* [[dynein]]
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Gibbons BH, Asai DJ, Tang WJ, ''et al.'' |title=Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. |journal=Mol. Biol. Cell |volume=5 |issue= 1 |pages= 57-70 |year= 1994 |pmid= 8186465 |doi=  }}
+*{{cite journal  | vauthors=Gibbons BH, Asai DJ, Tang WJ |title=Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins |journal=Mol. Biol. Cell |volume=5 |issue= 1 |pages= 57–70 |year= 1994 |pmid= 8186465 |doi=  10.1091/mbc.5.1.57| pmc=301009  |display-authors=etal}}
-*{{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=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=10.1083/jcb.133.4.831  | pmc=2120833  }}
-*{{cite journal  | author=Criswell PS, Ostrowski LE, Asai DJ |title=A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells. |journal=J. Cell. Sci. |volume=109 ( Pt 7) |issue=  |pages= 1891-8 |year= 1997 |pmid= 8832411 |doi=  }}
+*{{cite journal  | vauthors=Criswell PS, Ostrowski LE, Asai DJ |title=A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells |journal=J. Cell Sci. |volume=109 |issue=  7|pages= 1891–8 |year= 1997 |pmid= 8832411 |doi=  }}
-*{{cite journal  | author=Kastury K, Taylor WE, Gutierrez M, ''et al.'' |title=Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11. |journal=Genomics |volume=44 |issue= 3 |pages= 362-4 |year= 1997 |pmid= 9325061 |doi= 10.1006/geno.1997.4903 }}
+*{{cite journal  | vauthors=Kastury K, Taylor WE, Gutierrez M |title=Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11 |journal=Genomics |volume=44 |issue= 3 |pages= 362–4 |year= 1997 |pmid= 9325061 |doi= 10.1006/geno.1997.4903 |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=Grissom PM, Vaisberg EA, McIntosh JR |title=Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2 |journal=Mol. Biol. Cell |volume=13 |issue= 3 |pages= 817–29 |year= 2002 |pmid= 11907264 |doi= 10.1091/mbc.01-08-0402  | pmc=99601 }}
-*{{cite journal  | author=Koehler MR, Schmid M, Neesen J |title=Chromosomal localization of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21-->q22.1. |journal=Cytogenet. Cell Genet. |volume=82 |issue= 1-2 |pages= 123-5 |year= 1998 |pmid= 9763680 |doi=  }}
+*{{cite journal  | vauthors=Ohara O, Nagase T, Mitsui G |title=Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method |journal=DNA Res. |volume=9 |issue= 2 |pages= 47–57 |year= 2003 |pmid= 12056414 |doi=10.1093/dnares/9.2.47  |display-authors=etal}}
-*{{cite journal  | author=Grissom PM, Vaisberg EA, McIntosh JR |title=Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2. |journal=Mol. Biol. Cell |volume=13 |issue= 3 |pages= 817-29 |year= 2002 |pmid= 11907264 |doi= 10.1091/mbc.01-08-0402 }}
+*{{cite journal  | vauthors=Mikami A, Tynan SH, Hama T |title=Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells |journal=J. Cell Sci. |volume=115 |issue= Pt 24 |pages= 4801–8 |year= 2003 |pmid= 12432068 |doi=10.1242/jcs.00168  |display-authors=etal}}
-*{{cite journal  | author=Ohara O, Nagase T, Mitsui G, ''et al.'' |title=Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. |journal=DNA Res. |volume=9 |issue= 2 |pages= 47-57 |year= 2003 |pmid= 12056414 |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}}
-*{{cite journal  | author=Mikami A, Tynan SH, Hama T, ''et al.'' |title=Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells. |journal=J. Cell. Sci. |volume=115 |issue= Pt 24 |pages= 4801-8 |year= 2003 |pmid= 12432068 |doi=  }}
+*{{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=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=Yokota T, Kouno J, Adachi K |title=Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin |journal=Acta Neuropathol. |volume=111 |issue= 1 |pages= 29–38 |year= 2006 |pmid= 16320026 |doi= 10.1007/s00401-005-1085-6 |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  | author=Yokota T, Kouno J, Adachi K, ''et al.'' |title=Identification of histological markers for malignant glioma by genome-wide expression analysis: dynein, alpha-PIX and sorcin. |journal=Acta Neuropathol. |volume=111 |issue= 1 |pages= 29-38 |year= 2006 |pmid= 16320026 |doi= 10.1007/s00401-005-1085-6 }}
 }}
 {{refend}}
-{{protein-stub}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
-{{WikiDoc Sources}}
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{Cytoskeletal proteins}}
+{{gene-11-stub}}

DYNC2H1: Difference between revisions

Latest revision as of 19:47, 8 November 2017

See also

References

Further reading

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