| Type | Description |
|---|---|
| Definition | POC1 centriolar protein A |
| Date | Results | Publications |
|---|---|---|
| 2017-04-08 10:14:00 | we report the first patient with SOFT syndrome harboring compound heterozygous variants of POC1A. understanding POC1A mutations may provide appropriate management and genetic counseling to these patients and their families. | 26791357 |
| 2016-07-16 10:23:00 | Result identified a novel mutation in POC1A of patients with primordial dwarfism and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. | 26162852 |
| 2016-06-11 10:14:00 | POC1A may be added to ALMS1 and PCNT as examples of centrosomal or pericentriolar proteins whose dysfunction leads to extreme dyslipidaemic insulin resistance. | 26336158 |
| 2013-09-14 11:02:00 | Poc1A and Poc1B play redundant, but essential, roles in generation of stable centrioles, but Poc1B may have additional independent functions during cell cycle progression. | 23015594 |
| 2012-10-27 10:12:00 | POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. | 22840364 |
| Type | IDs |
|---|---|
| Synonymous | PIX2, SOFT, WDR51A |
| Gene |
UniProtKB-ID:
POC1A_HUMAN
UniprotKB:
Q8NBT0
UniParc:
UPI00006633C6,
UPI0000E1FCF5,
UPI000045711C
EMBL:
AC097637,
AK075289,
BC007417,
BC119693,
AC115284,
AL117629,
BC119692,
BC110877
Ensembl:
ENSG00000164087
KO:
hsa:25886
|
| Nucleutide sequences |
EMBL-CDS:
BAC11525.1,
CAB56021.1,
AAH07417.2,
AAI19693.1,
AAI10878.1,
AAI19694.1
Ensembl_TRS:
ENST00000474012,
ENST00000296484,
ENST00000394970
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000378421,
ENSP00000418968,
ENSP00000296484
RefSeq:
NP_056241.3,
XP_011531864.1,
XP_011531865.1,
NP_001155053.1,
XP_011531867.1,
XP_016861593.1,
XP_011531863.1,
XP_011531862.1,
NP_001155052.1,
XP_011531866.1
|
| Others |
UniRef100:
UniRef100_Q8NBT0
UniRef90:
UniRef90_Q8NBT0
UniRef50:
UniRef50_Q8NBT0
UniGene:
Hs.476306
CCDS:
CCDS54591.1,
CCDS2846.1,
CCDS54592.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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