DYNC1H1 Knowpia

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)
End	102,056,443 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	110,633,379 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; prefrontal cortex; ; stromal cell of endometrium; ; Brodmann area 9; ; postcentral gyrus; ; spinal ganglia; ; amygdala; ; Achilles tendon; ; nucleus accumbens; ; hippocampus proper;
	Top expressed in
	entorhinal cortex; ; superior frontal gyrus; ; external carotid artery; ; facial motor nucleus; ; anterior horn of spinal cord; ; internal carotid artery; ; cerebellar cortex; ; superior colliculus; ; medulla oblongata; ; primary motor cortex;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	microtubule motor activity; nucleotide binding; ATPase activity; protein binding; dynein light intermediate chain binding; cytoskeletal motor activity; ATP binding; RNA binding; minus-end-directed microtubule motor activity; dynein light chain binding; dynein intermediate chain binding;
Cellular component	cytoplasm; cytosol; centrosome; membrane; filopodium; cytoplasmic dynein complex; dynein complex; microtubule; 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; mitotic spindle organization; endoplasmic reticulum to Golgi vesicle-mediated transport; microtubule-based movement; G2/M transition of mitotic cell cycle; P-body assembly; stress granule assembly; neutrophil degranulation; ciliary basal body-plasma membrane 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; 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 edit

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

Clinical relevance edit

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 edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197102 – Ensembl, May 2017
^ ^a ^b ^c 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 CY, 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. 156 (6). United States: 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. 19 (23). ENGLAND: 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.