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
Human Chr (Location)		14q32; chr14:102430865-102517135 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human DYNC1H1

Alleles and phenotypes

All alleles(16) : Targeted(2) Gene trapped(10) 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: (21 annotations)

Process	cytoplasmic mRNA processing body assembly, microtubule-based movement, ...
Component	centrosome, cytoplasm, ...
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 Type	Results
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 Model	OTTMUSG00000036080 (Evidence)
Ensembl Gene Model	ENSMUSG00000018707 (Evidence)
Entrez Gene	13424 (Evidence)
UniGene	181430
DFCI	TC1573336, TC1607851
DoTS	DT.101397357, DT.494450, DT.94339967, DT.94359018
NIA Mouse Gene Index	U014411
PDB	3ERR, 3J1T, 3J1U
Consensus CDS Project	CCDS36559.1
International Mouse Knockout Project Status	Dync1h1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036080	VEGA Gene Model | MGI Sequence Detail	65494	C57BL/6J
transcript	OTTMUST00000092697	VEGA | MGI Sequence Detail	14342	Not Applicable
polypeptide	OTTMUSP00000051295	VEGA | MGI Sequence Detail	4644	Not Applicable

All sequences(53) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(2) : SNPs(481 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR011704	ATPase, dynein-related, AAA domain
InterPro	IPR025290	Domain of unknown function DUF4151
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
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(85)

Other accession IDs

MGD-MRK-14670, MGD-MRK-24013, MGD-MRK-8874, MGI:1891075, MGI:2144918, MGI:2442954, MGI:98455