InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DYNC2H1

Summary

InnateDB Protein

IDBP-69415.7

Last Modified

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

Gene Symbol

DYNC2H1

Protein Name

dynein, cytoplasmic 2, heavy chain 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000334021

InnateDB Gene

IDBG-69413 (DYNC2H1)

Protein Structure

UniProt Annotation

Function

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum. {ECO:0000250, ECO:0000269PubMed:8666668}.

Disease Associations

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:19361615, ECO:0000269PubMed:19442771, ECO:0000269PubMed:22499340, ECO:0000269PubMed:23456818}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269PubMed:21211617}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003774	motor activity
GO:0003777	microtubule motor activity
GO:0005524	ATP binding
GO:0016887	ATPase activity

Biological Process

GO:0006200	ATP catabolic process
GO:0007018	microtubule-based movement
GO:0007030	Golgi organization
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II

Cellular Component

GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0005874	microtubule
GO:0005886	plasma membrane
GO:0030286	dynein complex
GO:0070062	extracellular vesicular exosome