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Dync1h1
Gene Detail
Symbol

Name
ID
Dync1h1
dynein cytoplasmic 1 heavy chain 1
MGI:103147
Synonyms
9930018I23Rik, Dnchc1, Dnec1, dynein heavy chain, retrograde transport, Loa, MAP1C, mKIAA0325, Swl
Feature Type
protein coding gene
Genetic Map
Chromosome 12
60.70 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr12:110601452-110666945 bp, + strand
From VEGA annotation of GRCm38

  65494 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1053  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: DYNC1H1
Protein SuperFamily: dynein heavy chain, cytosolic
Gene Tree: Dync1h1

Human
homologs
DYNC1H1, dynein, cytoplasmic 1, heavy chain 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1778
neXtProt AC: NX_Q14204

Human Synonyms: CMT2O, DHC1, DHC1a, DNCH1, Dnchc1, DNCL, DNECL, DYHC, HL-3, p22, SMALED1

Human Chr (Location): 14q32; chr14:101964528-102050798 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human DYNC1H1

Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Chemically induced (ENU)(2) Gene trapped(11) Radiation induced(1) Targeted(2) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.
 
Interactions
Dync1h1 interacts with 162 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process cilium movement, cytoplasmic mRNA processing body assembly, ...
Component centrosome, cytoplasm, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (134)    Tissues (37)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 107
RT-PCR 27
cDNA source data(423)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dync1h1 ; ZFIN dync1h1    NEW 
Molecular
reagents
All nucleic(431) cDNA(428) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000036080 (Evidence)
Ensembl Gene Model ENSMUSG00000018707 (Evidence)
Entrez Gene 13424 (Evidence)
UniGene 181430
DFCI TC1607851, TC1573336
DoTS DT.94359018, DT.101397357, DT.94339967, DT.494450
NIA Mouse Gene Index U014411
PDB 3WUQ, 3ERR, 3J1U, 3J1T
Consensus CDS Project CCDS36559.1
International Mouse Phenotyping Consortium Status Dync1h1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036080 VEGA Gene Model | MGI Sequence Detail 65494 C57BL/6J ±  kb
transcript OTTMUST00000092697 VEGA | MGI Sequence Detail 14342 Not Applicable 
polypeptide OTTMUSP00000051295 VEGA | MGI Sequence Detail 4644 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(2) UniProt(8)
Polymorphisms
RFLP(2) : SNPs within 2kb(614 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR011704 ATPase, dynein-related, AAA domain
InterPro IPR026983 Dynein heavy chain
InterPro IPR024743 Dynein heavy chain, coiled coil stalk
InterPro IPR004273 Dynein heavy chain domain
InterPro IPR013594 Dynein heavy chain, domain-1
InterPro IPR013602 Dynein heavy chain, domain-2
InterPro IPR024317 Dynein heavy chain, P-loop containing D4 domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000006770 cytoplasmic dynein 1 heavy chain 1
References
(Earliest) J:13459 Erway L, ub is allele of th. Mouse News Lett. 1967;36:29
(Latest) J:203134 Rona-Voros K, et al., Full-length PGC-1alpha salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation. Hum Mol Genet. 2013 Dec 20;22(25):5096-106
All references(89)
Other
accession IDs
MGD-MRK-14670, MGD-MRK-24013, MGD-MRK-8874, MGI:1891075, MGI:2144918, MGI:2442954, MGI:98455

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory