DYNC2LI1
entrez
51626
canonical
uniprot
Q8TCX1
canonical
ensembl
ENSG00000138036
resolver
ensp
ENSP00000260605
resolver
ensp
ENSP00000385738
resolver
ensp
ENSP00000474032
resolver
ensp
ENSP00000797926
resolver
ensp
ENSP00000797927
resolver
genesymbol
DYNC2LI1
resolver
genesymbol_syn
D2LIC
resolver
genesymbol_syn
LIC3
resolver
hgnc
HGNC:24595
resolver
uniprot
A8MVJ5
resolver
uniprot
Q53F57
resolver
uniprot
Q6PDB2
resolver
uniprot
Q8IWA3
resolver
uniprot
Q96B03
resolver
uniprot
Q96J00
resolver
uniprot
Q9Y370
resolver
uniprot
Q9Y3S9
resolver
uniprot_entry
DC2L1_HUMAN
resolver
uniprot_sec
A8MVJ5
resolver
uniprot_sec
Q53F57
resolver
uniprot_sec
Q6PDB2
resolver
uniprot_sec
Q8IWA3
resolver
uniprot_sec
Q96B03
resolver
uniprot_sec
Q96J00
resolver
uniprot_sec
Q9Y370
resolver
uniprot_sec
Q9Y3S9
resolver
amino_acid_sequence
MPSETLWEIAKAEVEKRGINGSEGDGAEIAEKFVFFIGSKNGGKTTIILRCLDRDEPPKPTLALEYTYGRRAKGHNTPKDIAHFWELGGGTSLLDLISIPITGDTLRTFSLVLVLDLSKPNDLWPTMENLLQATKSHVDKVIMKLGKTNAKAVSEMRQKIWNNMPKDHPDHELIDPFPVPLVIIGSKYDVFQDFESEKRKVICKTLRFVAHYYGASLMFTSKSEALLLKIRGVINQLAFGIDKSKSICVDQNKPLFITAGLDSFGQIGSPPVPENDIGKLHAHSPMELWKKVYEKLFPPKSINTLKDIKDPARDPQYAENEVDEMRIQKDLELEQYKRSSSKSWKQIELDS
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]: 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:26077881, ECO:0000269|PubMed:26130459}. Note=The disease is caused by variants affecting the gene represented in this entry.
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, facilitating the assembly of these organelles (PubMed:29742051). Involved in the regulation of ciliary length (PubMed:26077881, PubMed:26130459). {ECO:0000269|PubMed:26077881, ECO:0000269|PubMed:26130459, ECO:0000269|PubMed:29742051}.
uniprot
proteins
mass_dalton
39625
uniprot
proteins
protein_family
Dynein light intermediate chain family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11907264
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25205765
uniprot
proteins
pubmed
26077881
uniprot
proteins
pubmed
26130459
uniprot
proteins
pubmed
29742051
uniprot
proteins
pubmed
31451806
uniprot
proteins
sequence_length
351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:11907264}. Cytoplasm {ECO:0000269|PubMed:26130459}. Cell projection, cilium {ECO:0000269|PubMed:26130459, ECO:0000269|PubMed:29742051}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26130459, ECO:0000269|PubMed:29742051}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q8K0T2}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26130459}. Note=Localizes to the apical cytoplasm. {ECO:0000250|UniProtKB:Q8K0T2}.
uniprot
proteins