InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Dync1h1

Summary

InnateDB Protein

IDBP-171595.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Dync1h1

Protein Name

dynein cytoplasmic 1 heavy chain 1

Synonyms

9930018I23Rik; AI894280; DHC1; DHC1a; Dnchc1; DNCL; Dnec1; Dnecl; Loa; MAP1C; mKIAA0325; P22; Swl;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000018851

InnateDB Gene

IDBG-171593 (Dync1h1)

Protein Structure

UniProt Annotation

Function

Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Note=Defects in Dync1h1 are the cause of the 'Legs at odd angles' (LOA) phenotype, an autosomal dominant trait where affected animals display unusual twisting of the body and clenching of the hindlimbs when suspended by the tail. Heterozygotes suffer age-related progressive loss of muscle tone and locomotor ability without major reduction in life-span while homozygotes show a more severe phenotype with an inability to move or feed, and die within 24 hours of birth. LOA mutants display defects in migration of facial motor neuron cell bodies and impaired retrograde transport in spinal cord motor neurons.Note=Defects in Dync1h1 are the cause of the Cramping 1 (Cra1) phenotype, an autosomal dominant trait where affected animals display unusual twisting of the body and clenching of the hindlimbs when suspended by the tail. Heterozygotes suffer age- related progressive loss of muscle tone and locomotor ability without major reduction in life-span while homozygotes show a more severe phenotype with an inability to move or feed, and die within 24 hours of birth.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 85 interaction(s) predicted by orthology.

Experimentally validated
Total	46 [view]
Protein-Protein	46 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	85 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003777	microtubule motor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0017111	nucleoside-triphosphatase activity
GO:0044822	poly(A) RNA binding
GO:0051959	dynein light intermediate chain binding

Biological Process

GO:0003341	cilium movement
GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0007018	microtubule-based movement
GO:0033962	cytoplasmic mRNA processing body assembly
GO:0034063	stress granule assembly

Cellular Component

GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005813	centrosome
GO:0005858	axonemal dynein complex
GO:0005874	microtubule
GO:0016020	membrane
GO:0030175	filopodium
GO:0030286	dynein complex
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

MGI:103147

InterPro

IPR003593 AAA+ ATPase domain
IPR004273 Dynein heavy chain domain
IPR010987 Glutathione S-transferase, C-terminal-like
IPR011704 ATPase, dynein-related, AAA domain
IPR012336 Thioredoxin-like fold
IPR013594 Dynein heavy chain, domain-1
IPR013602 Dynein heavy chain, domain-2
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM