| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:15:00 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 33572860 |
| 2021-02-27 13:45:00 | The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. | 32759308 |
| 2020-10-03 12:57:00 | Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient. | 31997113 |
| 2019-04-13 10:52:00 | Retrotransposon insertion in exon 13 was identified in a female with Bardet-Biedl syndrome carrying the most common BBS1 mutation (BBS1: Met390Arg). | 30484961 |
| 2017-07-08 10:07:00 | Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). | 27434533 |
| Type | IDs |
|---|---|
| Synonymous | BBS2L2 |
| Gene |
UniProtKB-ID:
BBS1_HUMAN
UniprotKB:
Q8NFJ9
UniParc:
UPI000006E494,
UPI00005DC73B,
UPI0000073430
EMBL:
AF503941,
BC109065,
AP002748,
BC109064,
AK027645
Ensembl:
ENSG00000174483
KO:
hsa:582
|
| Nucleutide sequences |
EMBL-CDS:
AAI09065.1,
AAM92770.1,
BAB55261.1,
AAI09066.1
Ensembl_TRS:
ENST00000318312,
ENST00000393994
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000317469,
ENSP00000377563
RefSeq:
NP_078925.3
|
| Others |
UniRef100:
UniRef100_Q8NFJ9
UniRef90:
UniRef90_Q8NFJ9
UniRef50:
UniRef50_Q8NFJ9
UniGene:
Hs.502915
CCDS:
CCDS8142.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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