full name
dynein cytoplasmic 1 heavy chain 1

synonyms
DHC1, DHC1a, DNCH1, Dnchc1, DNCL, DNECL, DYHC, HL-3, p22, SMALED1, DYNC1H1, ENSG00000197102

HGNC
HGNC:2961

Entrez Gene
Gene:1778

ENSEMBL
ENSG00000197102

location
chr: 14
start: 102430865
stop: 102517135
strand: +

OMIM
OMIM:600112: DYNC1H1 (Autosomal dominant inheritance)
OMIM:614228: Charcot-Marie-Tooth disease, axonal, type 20
OMIM:614563: Mental retardation, autosomal dominant 13
OMIM:158600: Spinal muscular atrophy, lower extremity-predominant 1, AD

transcripts
NM_001376.4

pathways
AURKA Activation by TPX2 [NCBI:1383018] [REACTOME:R-HSA-8854518] [PUBMED:14580337] [PUBMED:21147853] [PUBMED:22094468] [PUBMED:21347367]
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:13978319] [PUBMED:23348840] [PUBMED:25047614] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:21422230] [PUBMED:24469809] [PUBMED:23530209] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:23351793] [PUBMED:21427764] [PUBMED:11676918] [PUBMED:22653444]
Asparagine N-linked glycosylation [NCBI:1268714] [REACTOME:R-HSA-446203] [PUBMED:16807922] [PUBMED:19647993] [PUBMED:10580125] [PUBMED:19616933] [PUBMED:20301507] [PUBMED:20301244]
COPI-independent Golgi-to-ER retrograde traffic [NCBI:1383043] [REACTOME:R-HSA-6811436] [PUBMED:23783758] [PUBMED:9671731] [PUBMED:25233431] [PUBMED:22130221] [PUBMED:10559986] [PUBMED:12447383] [PUBMED:10562278]
COPI-mediated anterograde transport [NCBI:1339109] [REACTOME:R-HSA-6807878] [PUBMED:9323141] [PUBMED:15632110] [PUBMED:10825291] [PUBMED:9288971] [PUBMED:23378591] [PUBMED:8334707] [PUBMED:22013193] [PUBMED:23732476]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
Centrosome maturation [NCBI:1269805] [REACTOME:R-HSA-380287] [PUBMED:17178454] [PUBMED:18437411]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
ER to Golgi Anterograde Transport [NCBI:1268726] [REACTOME:R-HSA-199977] [PUBMED:11252894]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Golgi-to-ER retrograde transport [NCBI:1383041] [REACTOME:R-HSA-8856688] [PUBMED:23732476] [PUBMED:23378591] [PUBMED:25233431]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Intra-Golgi and retrograde Golgi-to-ER traffic [NCBI:1383038] [REACTOME:R-HSA-6811442] [PUBMED:11756463] [PUBMED:23839779] [PUBMED:21436057] [PUBMED:22013193] [PUBMED:21421921] [PUBMED:25233431] [PUBMED:16157178] [PUBMED:12121415] [PUBMED:25343031] [PUBMED:24068461] [PUBMED:19575639]
Lissencephaly gene (LIS1) in neuronal migration and development [NCBI:137984] [Pathway Interaction Database:lis1pathway] [PUBMED:16203747] [PUBMED:16369480] [PUBMED:16138011] [PUBMED:8090221] [PUBMED:14578885] [PUBMED:11940666] [PUBMED:7690334] [PUBMED:10491172] [PUBMED:15762842] [PUBMED:11734602] [PUBMED:11889140] [PUBMED:12796778] [PUBMED:14507966] [PUBMED:11163260] [PUBMED:14724251] [PUBMED:12911752] [PUBMED:10896159]
Loss of Nlp from mitotic centrosomes [NCBI:1269809] [REACTOME:R-HSA-380259] [PUBMED:12852856]
Loss of proteins required for interphase microtubule organization from the centrosome [NCBI:1269808] [REACTOME:R-HSA-380284] [PUBMED:12140259] [PUBMED:12852856]
MHC class II antigen presentation [NCBI:1269200] [REACTOME:R-HSA-2132295] [PUBMED:19703008] [PUBMED:9316394] [PUBMED:11684289] [PUBMED:19217269] [PUBMED:8689559]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Phagosome [NCBI:153910] [KEGG:hsa04145] [PUBMED:17637737] [PUBMED:18513324] [PUBMED:15894272] [PUBMED:10684585] [PUBMED:18492791] [PUBMED:15036145] [PUBMED:17245426]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Recruitment of mitotic centrosome proteins and complexes [NCBI:1269806] [REACTOME:R-HSA-380270] [PUBMED:18437411] [PUBMED:17178454]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]
Salmonella infection [NCBI:375172] [KEGG:hsa05132] [PUBMED:18407067] [PUBMED:18411289] [PUBMED:18778407] [PUBMED:20123714] [PUBMED:20158475] [PUBMED:19779561] [PUBMED:18026123] [PUBMED:19930040] [PUBMED:12675800] [PUBMED:11755407] [PUBMED:11489966] [PUBMED:19775254] [PUBMED:20943123] [PUBMED:17690885] [PUBMED:16938850] [PUBMED:20526845] [PUBMED:11567004] [PUBMED:17074883] [PUBMED:11825778] [PUBMED:17071592] [PUBMED:16800847] [PUBMED:16611232] [PUBMED:10499590]
Transport to the Golgi and subsequent modification [NCBI:1268725] [REACTOME:R-HSA-948021] [PUBMED:12717434] [PUBMED:10412983] [PUBMED:3594573]
Vasopressin-regulated water reabsorption [NCBI:143700] [KEGG:hsa04962] [PUBMED:14586738] [PUBMED:17956998] [PUBMED:11001488] [PUBMED:10073616] [PUBMED:18566824] [PUBMED:18431594] [PUBMED:11773613] [PUBMED:18655910] [PUBMED:10070156] [PUBMED:15522987] [PUBMED:10099706]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]