Entity Details

Primary name DYHC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NCM8
EntryNameDYHC2_HUMAN
FullNameCytoplasmic dynein 2 heavy chain 1
TaxID9606
Evidenceevidence at protein level
Length4307
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesDYNC2H1

GO terms

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GOName
GO:0001822 kidney development
GO:0003774 cytoskeletal motor activity
GO:0005524 ATP binding
GO:0005794 Golgi apparatus
GO:0005868 cytoplasmic dynein complex
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0007018 microtubule-based movement
GO:0007030 Golgi organization
GO:0007368 determination of left/right symmetry
GO:0008569 minus-end-directed microtubule motor activity
GO:0009953 dorsal/ventral pattern formation
GO:0016485 protein processing
GO:0021522 spinal cord motor neuron differentiation
GO:0030286 dynein complex
GO:0030326 embryonic limb morphogenesis
GO:0030900 forebrain development
GO:0031514 motile cilium
GO:0035721 intraciliary retrograde transport
GO:0035735 intraciliary transport involved in cilium assembly
GO:0045177 apical part of cell
GO:0045505 dynein intermediate chain binding
GO:0045880 positive regulation of smoothened signaling pathway
GO:0051959 dynein light intermediate chain binding
GO:0060271 cilium assembly
GO:0060976 coronary vasculature development
GO:0061512 protein localization to cilium
GO:0070062 extracellular exosome
GO:0097542 ciliary tip
GO:1905515 non-motile cilium assembly

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR003593 AAA+ ATPase domainDomainDomain
IPR004273 Dynein heavy chain region D6 P-loop domainDomainDomain
IPR013594 Dynein heavy chain, tailDomainDomain
IPR013602 Dynein heavy chain, linkerDomainDomain
IPR024317 Dynein heavy chain, AAA module D4DomainDomain
IPR024743 Dynein heavy chain, coiled coil stalkDomainDomain
IPR026815 Cytoplasmic dynein 2 heavy chain 1FamilyFamily
IPR026983 Dynein heavy chainFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR035699 Dynein heavy chain, hydrolytic ATP-binding dynein motor regionDomainDomain
IPR035706 Dynein heavy chain, ATP-binding dynein motor regionDomainDomain
IPR041228 Dynein heavy chain, C-terminal domainDomainDomain
IPR041658 Dynein heavy chain AAA lid domainDomainDomain
IPR042219 Dynein heavy chain AAA lid domain superfamilyFamilyHomologous superfamily
IPR042222 Dynein heavy chain, domain 2, N-terminalFamilyHomologous superfamily
IPR042228 Dynein heavy chain, linker, subdomain 3FamilyHomologous superfamily
IPR043157 Dynein heavy chain, AAA1 domain, small subdomainFamilyHomologous superfamily
IPR043160 Dynein heavy chain, C-terminal domain, barrel regionFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613091 OMIMShort-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)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. The disease is caused by variants 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).