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Gene: DYNC1H1 (dynein cytoplasmic 1 heavy chain 1) Homo sapiens
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Symbol: DYNC1H1
Name: dynein cytoplasmic 1 heavy chain 1
Description: Exhibits dynein light intermediate chain binding activity. Contributes to ATP-dependent microtubule motor activity, minus-end-directed. Involved in establishment of spindle localization; positive regulation of intracellular transport; and regulation of cell cycle process. Localizes to centrosome; cytoplasmic dynein complex; and microtubule. Implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant non-syndromic intellectual disability 13; and spinal muscular atrophy with lower extremity predominance 1. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT20; CMT2O; cytoplasmic dynein 1 heavy chain 1; cytoplasmic dynein heavy chain 1; DHC1; DHC1a; DKFZp686P2245; DNCH1; Dnchc1; DNCL; DNECL; DYHC; dynein heavy chain, cytosolic; dynein, cytoplasmic 1, heavy chain 1; dynein, cytoplasmic, heavy polypeptide 1; dynein, cytoplasmic-like; HL-3; KIAA0325; MRD13; p22; SMALED; SMALED1
Orthologs:
Mus musculus (house mouse) : Dync1h1 (dynein cytoplasmic 1 heavy chain 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dync1h1 (dynein cytoplasmic 1 heavy chain 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dync1h1 (dynein cytoplasmic 1 heavy chain 1)
Pan paniscus (bonobo/pygmy chimpanzee) : DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
Canis lupus familiaris (dog) : DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dync1h1 (dynein cytoplasmic 1 heavy chain 1)
Sus scrofa (pig) : DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
Chlorocebus sabaeus (African green monkey) : DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
Heterocephalus glaber (naked mole-rat) : Dync1h1 (dynein cytoplasmic 1 heavy chain 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl14101,964,573 - 102,056,443 (+)EnsemblGRCh38hg38GRCh38
GRCh3814101,964,573 - 102,056,443 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714102,430,865 - 102,517,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614101,500,734 - 101,586,888 (+)NCBINCBI36hg18NCBI36
Build 3414101,500,736 - 101,586,887NCBI
Celera1482,485,364 - 82,571,630 (+)NCBI
Cytogenetic Map14q32.31NCBI
HuRef1482,609,802 - 82,696,060 (+)NCBIHuRef
CHM1_114102,368,694 - 102,454,973 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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