DYNC1H1

DYNC1H1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2BOR, 2BOT
Identifiers
Aliases	DYNC1H1, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, CMT2O, dynein cytoplasmic 1 heavy chain 1
External IDs	OMIM: 600112 MGI: 103147 HomoloGene: 1053 GeneCards: DYNC1H1
Gene location (Human)
Chr.	Chromosome 14 (human)[1]
End	102,056,443 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	110,666,945 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• microtubule motor activity; • nucleotide binding; • ATPase activity; • GO:0001948 protein binding; • dynein light intermediate chain binding; • cellular motor activity; • ATP binding; • RNA binding; • ATP-dependent microtubule motor activity, minus-end-directed; • dynein light chain binding; • dynein intermediate chain binding;
Cellular component	• cytoplasm; • cytosol; • centrosome; • membrane; • filopodium; • cytoplasmic dynein complex; • dynein complex; • microtubules; • extracellular exosome; • cytoskeleton; • extracellular matrix; • extracellular region; • azurophil granule lumen; • cytoplasmic microtubule; • cell cortex; • axon cytoplasm;
Biological process	• antigen processing and presentation of exogenous peptide antigen via MHC class II; • establishment of spindle localization; • GO:0043148 mitotic spindle organization; • ER to Golgi vesicle-mediated transport; • microtubule-based movement; • G2/M transition of mitotic cell cycle; • cytoplasmic mRNA processing body assembly; • stress granule assembly; • neutrophil degranulation; • ciliary basal body docking; • regulation of mitotic spindle organization; • positive regulation of intracellular transport; • regulation of metaphase plate congression; • positive regulation of spindle assembly; • cytoplasmic microtubule organization; • minus-end-directed vesicle transport along microtubule; • cell cycle; • cell division; • sister chromatid cohesion; • regulation of G2/M transition of mitotic cell cycle; • transport; • positive regulation of cold-induced thermogenesis; • GO:0007067 mitotic cell cycle; • nuclear migration; • retrograde axonal transport;
	Sources:Amigo / QuickGO
Orthologs
	1778
	13424
	ENSG00000197102
	ENSMUSG00000018707
	Q14204
	Q9JHU4
	NM_001376
	NM_030238
	NP_001367
	NP_084514
	Wikidata
View/Edit Human	View/Edit Mouse

Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the DYNC1H1 gene.[5][6][7]

Interactions

DYNC1H1 has been shown to interact with PAFAH1B1[8] and CDC5L.[9]

Clinical relevance

Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease[10] as well as spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1).[11]

References

GRCh38: Ensembl release 89: ENSG00000197102 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000018707 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1".
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.
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.
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.
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): 1714–1720. doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.

External links

Overview of all the structural information available in the PDB for UniProt: Q14204 (Cytoplasmic dynein 1 heavy chain 1) at the PDBe-KB.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197102 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000018707 - 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.

[pmid16260502-5] 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.

[pmid8666668-6] 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.

[entrez-7] "Entrez Gene: DYNC1H1 dynein, cytoplasmic 1, heavy chain 1".

[pmid11889140-8] 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.

[pmid11101529-9] 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.

[pmid21820100-10] 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.

[11] 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): 1714–1720. doi:10.1212/WNL.0b013e3182556c05. PMC 3359582. PMID 22459677.

DYNC1H1

Interactions

Clinical relevance

References

Further reading

External links