DYNC2I1
entrez
55112
canonical
uniprot
Q8WVS4
canonical
ensembl
ENSG00000126870
resolver
ensp
ENSP00000384290
resolver
ensp
ENSP00000530870
resolver
ensp
ENSP00000631409
resolver
enst
ENST00000407559
resolver
genesymbol
DYNC2I1
resolver
genesymbol_syn
WDR60
resolver
hgnc
HGNC:21862
resolver
uniprot
A0A140VK66
resolver
uniprot
Q9NW58
resolver
uniprot_entry
A0A140VK66_HUMAN
resolver
uniprot_entry
DC2I1_HUMAN
resolver
uniprot_sec
Q9NW58
resolver
amino_acid_sequence
MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDPDQDARSRDRVAEVHTAKESPRGERDRDRQRERRRDAKDREKEKLKEKHREAEKSHSRGKDREKEKDRRARKEELRQTVAHHNLLGQETRDRQLLERAERKGRSVSKVRSEEKDEDSERGDEDRERRYRERKLQYGDSKDNPLKYWLYKEEGERRHRKPREPDRDNKHREKSSTREKREKYSKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKEKSAKDEPRKRESQNGEHRNRGASSKRDGTSSQHAENLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGEETVEIEKEETDLENARADAYTASCEDDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQRAINAENERIGELSLKLFQKRGRTEFEKEPRTDTNSSPSRASVCGIFVDFASASHRQKSRTQALKQKMRSTKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGKKNTKQAYVQCNEDNVERDIQTEEIETREVWTQHPGESTVVSGGSEQRDTSDAVVMPKIDTPRLCSFLRAACQVMAVLLEEDRLAAEPSWNLRAQDRALYFSDSSSQLNTSLPFLQNRKVSSLHTSRVQRQMVVSVHDLPEKSFVPLLDSKYVLCVWDIWQPSGPQKVLICESQVTCCCLSPLKAFLLFAGTAHGSVVVWDLREDSRLHYSVTLSDGFWTFRTATFSTDGILTSVNHRSPLQAVEPISTSVHKKQSFVLSPFSTQEEMSGLSFHIASLDESGVLNVWVVVELPKADIAGSISDLGLMPGGRVKLVHSALIQLGDSLSHKGNEFWGTTQTLNVKFLPSDPNHFIIGTDMGLISHGTRQDLRVAPKLFKPQQHGIRPVKVNVIDFSPFGEPIFLAGCSDGSIRLHQLSSAFPLLQWDSSTDSHAVTGLQWSPTRPAVFLVQDDTSNIYIWDLLQSDLGPVAKQQVSPNRLVAMAAVGEPEKAGGSFLALVLARASGSIDIQHLKRRWAAPEVDECNRLRLLLQEALWPEGKLHK
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) [MIM:615503]: 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:0000269|PubMed:23910462, ECO:0000269|PubMed:25492405, ECO:0000269|PubMed:30320547}. Note=The disease is caused by variants affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.
uniprot
proteins
function
FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:23910462, PubMed:25205765, PubMed:29742051, PubMed:31451806). DYNC2I1 plays a major role in retrograde ciliary protein trafficking in cilia and flagella (PubMed:29742051, PubMed:30320547, PubMed:30649997). Also requires to maintain a functional transition zone (PubMed:30320547). {ECO:0000269|PubMed:23910462, ECO:0000269|PubMed:25205765, ECO:0000269|PubMed:29742051, ECO:0000269|PubMed:30320547, ECO:0000269|PubMed:30649997, ECO:0000269|PubMed:31451806}.
uniprot
proteins
mass_dalton
122571
uniprot
proteins
protein_family
Dynein light intermediate chain family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23910462
uniprot
proteins
pubmed
25205765
uniprot
proteins
pubmed
25492405
uniprot
proteins
pubmed
26044572
uniprot
proteins
pubmed
27021811
uniprot
proteins
pubmed
29742051
uniprot
proteins
pubmed
30320547
uniprot
proteins
pubmed
30649997
uniprot
proteins
pubmed
31451806
uniprot
proteins
sequence_length
1066
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:23910462}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25205765}. Note=Located at the base of the primary cilium in serum-starved fibroblasts. {ECO:0000269|PubMed:23910462}.
uniprot
proteins