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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

Protein SuperFamily: dynein heavy chain, cytosolic
Gene Tree: Dync1h1

Human
homologs
Human Homolog DYNC1H1, dynein, cytoplasmic 1, heavy chain 1
NCBI Gene ID 1778
neXtProt AC  NX_Q14204
Human Synonyms  DHC1, DHC1a, DNCH1, Dnchc1, DNCL, DNECL, DYHC, HL-3, p22, SMALED1
Human Chr (Location)  14q32; chr14:101964528-102050798 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human DYNC1H1
Alleles
and
phenotypes
All alleles(17) : Targeted(2) Gene trapped(11) Transgenic(1) Chemically induced(2) Radiation induced(1)
 
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.
 
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process cilium movement, cytoplasmic mRNA processing body assembly, ...
Component axonemal dynein complex, centrosome, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (134)    Tissues (29)    Images (25)
Theiler Stages: 1, 5, 20, 23, 24, 28
Assay TypeResults
RNA in situ 107
RT-PCR 27
cDNA source data(423)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(431) cDNA(428) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000036080 (Evidence)
Ensembl Gene ModelENSMUSG00000018707 (Evidence)
Entrez Gene13424 (Evidence)
UniGene181430
DFCITC1573336, TC1607851
DoTSDT.101397357, DT.494450, DT.94339967, DT.94359018
NIA Mouse Gene IndexU014411
PDB3ERR, 3J1T, 3J1U
Consensus CDS ProjectCCDS36559.1
International Mouse Knockout Project StatusDync1h1
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(88)
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
Citing These Resources
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory