| Type | Description |
|---|---|
| Definition | KIAA0586 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:58:00 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 30988386 |
| 2020-07-18 11:22:00 | This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported. | 32381069 |
| 2020-07-11 10:12:00 | Loss of KIAA0586 protein (TALPID3) function can cause both severe lethal and mild cilia-related developmental disorders [Review] | 31326647 |
| 2020-05-23 10:46:00 | Considering this and the high allele frequency of 0.003117 in the gnomAD database, we conclude that c.428delG represents a JBTS disease-causing variant only if present in compound heterozygous state with a more severe KIAA0586 variant, but not in a homozygous situation. | 30120217 |
| 2019-02-02 12:26:00 | Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks. | 30258116 |
| Type | IDs |
|---|---|
| Synonymous | JBTS23, SRTD14, Talpid3 |
| Gene |
UniProtKB-ID:
TALD3_HUMAN,
B7Z7W7_HUMAN,
A0A494C171_HUMAN,
A0A087WYM5_HUMAN,
B4DYW5_HUMAN
UniprotKB:
Q9BVV6,
B7Z7W7,
A0A494C171,
A0A087WYM5,
B4DYW5
UniParc:
UPI00020656A2,
UPI00015A20AA,
UPI000226602D,
UPI0003EAFBCB,
UPI00017A8559,
UPI0001AE6998,
UPI000013D14E,
UPI00019152C6
EMBL:
AL135752,
AB011158,
AK302635,
BC000900,
AL139021,
AY359881,
CH471061,
AK302579,
AK302836,
BC066647
Ensembl:
ENSG00000100578
KO:
hsa:9786
|
| Nucleutide sequences |
EMBL-CDS:
BAA25512.2,
AAH66647.2,
EAW80740.1,
AAH00900.1,
AAQ63404.1,
BAG64028.1,
BAH13753.1,
BAG63877.1
Ensembl_TRS:
ENST00000423743,
ENST00000261244,
ENST00000556134,
ENST00000354386,
ENST00000619416,
ENST00000652326,
ENST00000619722
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346359,
ENSP00000261244,
ENSP00000478083,
ENSP00000399427,
ENSP00000452351,
ENSP00000498929,
ENSP00000481936
RefSeq:
XP_024305556.1,
XP_024305553.1,
NP_055564.3,
NP_001231118.1,
XP_024305550.1,
NP_001231119.1,
XP_024305552.1,
NP_001316872.1,
XP_024305551.1,
XP_024305549.1,
NP_001316875.1,
NP_001316874.1,
NP_001316876.1,
NP_001351629.1,
XP_024305555.1,
NP_001231121.1,
XP_024305548.1,
NP_001351630.1,
XP_024305547.1,
NP_001231120.1,
NP_001316873.1,
XP_024305557.1,
XP_024305559.1,
NP_001231122.1
|
| Others |
UniRef100:
UniRef100_B7Z7W7,
UniRef100_Q9BVV6,
UniRef100_B4DYW5
UniRef90:
UniRef90_Q9BVV6
UniRef50:
UniRef50_Q9BVV6
UniGene:
Hs.232532
CCDS:
CCDS45115.1,
CCDS58322.1,
CCDS58320.1,
CCDS58321.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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