| Type | Description |
|---|---|
| Definition | dynein cytoplasmic 2 light intermediate chain 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-14 10:38:00 | Our findings indicate that DYNC2LI1 mutations are associated with a wider clinical spectrum than previously appreciated, including EvC, with the severity of the phenotype likely depending on the extent of defective DYNC2LI1 function. | 28857138 |
| 2016-07-16 10:35:00 | depletion of DYNC2LI1 induced altered cilia morphology with broadened ciliary tips and accumulation of intraflagellar transport complexes (IFT-B) complex proteins in accordance with retrograde IFT defects. | 26130459 |
| 2016-04-09 10:05:00 | DYNC2LI1 is essential for dynein-2 complex stability and that mutations in DYNC2LI1 result in variable length, including hyperelongated, cilia, Hedgehog pathway impairment and ciliary IFT accumulations, causing short rib polydactyly syndrome. | 26077881 |
| Type | IDs |
|---|---|
| Synonymous | CGI-60, D2LIC, LIC3 |
| Gene |
UniProtKB-ID:
DC2L1_HUMAN
UniprotKB:
Q8TCX1
UniParc:
UPI0000044727,
UPI00000704B1,
UPI0000074529,
UPI00004EA899,
UPI0000071ECB
EMBL:
BC058823,
AL050006,
BC040558,
AC011242,
CH471053,
BC016324,
AF151818,
AK223432,
AY083346,
BC006969
Ensembl:
ENSG00000138036
KO:
hsa:51626
|
| Nucleutide sequences |
EMBL-CDS:
AAH06969.1,
EAX00291.1,
CAB43233.1,
AAH40558.1,
BAD97152.1,
AAL99216.1,
AAY14702.1,
EAX00289.1,
EAX00290.1,
AAH16324.1,
AAH58823.1,
AAD34055.1
Gene_ORFName:
CGI-60
Ensembl_TRS:
ENST00000260605,
ENST00000605786,
ENST00000406852,
ENST00000398823
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000260605,
ENSP00000474032,
ENSP00000385738,
ENSP00000381804
RefSeq:
NP_057092.2,
NP_001335841.1,
NP_001180393.1,
NP_001335842.1,
NP_056337.1
|
| Others |
UniRef100:
UniRef100_Q8TCX1
UniRef90:
UniRef90_Q8TCX1
UniRef50:
UniRef50_Q8TCX1
UniGene:
Hs.371597
CCDS:
CCDS46270.1,
CCDS62903.1,
CCDS1813.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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