| Type | Description |
|---|---|
| Definition | POC1 centriolar protein B |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:40:00 | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | 32244552 |
| 2019-12-28 10:53:00 | Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort. | 31390656 |
| 2019-04-13 10:49:00 | Compound heterozygous mutation in the POC1B gene is associated with peripheral cone dystrophy. | 29377742 |
| 2019-03-16 10:14:00 | The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. | 29220607 |
| 2017-08-12 10:31:00 | Depletion of CEP295 blocks the incorporation of POC5 and POC1B into the distal portion of centrioles and suppresses the post-translational modification of centriolar microtubules . Our study thus uncovers a new role for CEP295 during centriole elongation. | 27185865 |
| Type | IDs |
|---|---|
| Synonymous | CORD20, PIX1, TUWD12, WDR51B |
| Gene |
UniProtKB-ID:
POC1B_HUMAN,
A0MNP0_HUMAN
UniprotKB:
Q8TC44,
A0MNP0
UniParc:
UPI0000EE273B,
UPI000006E6B9
EMBL:
AC010201,
CH471054,
AC025034,
BC026080,
EF011619,
AK074772
Ensembl:
ENSG00000139323
KO:
hsa:282809
|
| Nucleutide sequences |
EMBL-CDS:
EAW97425.1,
BAC11198.1,
AAH26080.1,
ABK41109.1,
EAW97426.1
Gene_ORFName:
hCG_27606
Ensembl_TRS:
ENST00000549035,
ENST00000313546
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000447916,
ENSP00000323302
RefSeq:
NP_758440.1,
NP_001186706.1
|
| Others |
UniRef100:
UniRef100_Q8TC44
UniRef90:
UniRef90_Q8TC44
UniRef50:
UniRef50_Q8TC44
UniGene:
Hs.25130,
Hs.604487
CCDS:
CCDS31869.1,
CCDS55859.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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