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] Band 14q32.31 Start 101,964,573 bp[1] End 102,056,443 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 F1|12 60.7 cM Start 110,567,886 bp[2] End 110,633,379 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1778 13424 Ensembl ENSG00000197102 ENSMUSG00000018707 UniProt Q14204 Q9JHU4 RefSeq (mRNA) NM_001376 NM_030238 RefSeq (protein) NP_001367 NP_084514 Location (UCSC) Chr 14: 101.96 – 102.06 Mb Chr 12: 110.57 – 110.63 Mb PubMed search [3] [4]
Wikidata
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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]