Protein Domain : IPR026815

Type:  Family Name:  Cytoplasmic dynein 2 heavy chain 1
Description:  Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) is a subunit of the cytoplasmic dynein complex 2. It may function as a motor for intraflagellar retrograde transport. It also plays a role in cilia biogenesis []. Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3) and the cause of short rib-polydactyly syndrome type 3 (SRPS3, also called Verma-Naumoff syndrome). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency []. SRPS3 is a lethal skeletal dysplasia characterised by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas []. Short Name:  DYNC2H1
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR10676:SF34

0 Found In

2 GO Annotations

GO Term Gene Name
GO:0003777 IPR026815
GO:0007018 IPR026815

2 Ontology Annotations

GO Term Gene Name
GO:0003777 IPR026815
GO:0007018 IPR026815

1 Parent Features

DB identifier Type Name
IPR026983 Family Dynein heavy chain

8 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
46683 C1MPD7 PAC:27347634 Micromonas pusilla CCMP1545 4425  
96530 C1FG39 PAC:27403272 Micromonas sp RCC299 4261  
Cre06.g250300.t1.2 A0A2K3DLV6 PAC:30779437 Chlamydomonas reinhardtii 4333  
Mapoly0108s0011.1.p A0A2R6WCT0 PAC:33021760 Marchantia polymorpha 4207  
Dusal.0042s00023.1.p PAC:33189875 Dunaliella salina 236  
Dusal.0042s00022.1.p PAC:33189868 Dunaliella salina 3703  
Cz15g17030.t1 PAC:38234611 Chromochloris zofingiensis 4358  
Vocar.0038s0044.1.p PAC:32887683 Volvox carteri 4338  

3 Publications

First Author Title Year Journal Volume Pages PubMed ID
            8666668
            19442771
            19361615