| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 9 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-25 12:28:00 | Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction. | 31530639 |
| 2020-07-04 10:57:00 | Study of two apparently unrelated consanguineous Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan) district, Pakistan identified a recently reported single base deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in both families and speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan. | 31294530 |
| 2019-04-13 12:13:00 | BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential. | 29674126 |
| 2017-05-20 11:03:00 | Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women | 26480920 |
| 2016-05-14 11:23:00 | BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene. | 26846096 |
| Type | IDs |
|---|---|
| Synonymous | B1, C18, D1, PTHB1 |
| Gene |
UniProtKB-ID:
PTHB1_HUMAN,
A0A090N7W2_HUMAN,
A0A5F9ZH74_HUMAN,
A0A5F9ZGY2_HUMAN,
A0A5F9ZH14_HUMAN,
A0A090N8P4_HUMAN
UniprotKB:
Q3SYG4,
A0A090N7W2,
A0A5F9ZH74,
A0A5F9ZGY2,
A0A5F9ZH14,
A0A090N8P4
UniParc:
UPI000949B6BA,
UPI000020ED64,
UPI000020ED62,
UPI0000D720D9,
UPI0005D007E4,
UPI00000726E5,
UPI000020ED57,
UPI0000D720DA,
UPI00005B3B20,
UPI000949B664
EMBL:
U87408,
BC032715,
U85997,
AC018664,
AC078833,
U85994,
AC087070,
AF095770,
AC074338,
CH471073,
BC103831,
U85995,
AC007312,
AC008080,
AC006195,
AACC02000103,
AF095771
Ensembl:
ENSG00000122507
KO:
hsa:27241
|
| Nucleutide sequences |
EMBL-CDS:
AAB47568.1,
AAB46606.1,
AAD25981.1,
AAH32715.1,
AAB61919.1,
AAD25980.1,
AAI03832.1,
AAB61918.1,
EAW94017.1,
EAL24467.1,
EAL24466.1
Gene_ORFName:
tcag7.720,
hCG_1744365,
tcag7.720
Ensembl_TRS:
ENST00000396127,
ENST00000673462,
ENST00000355070,
ENST00000242067,
ENST00000425508,
ENST00000350941,
ENST00000672717,
ENST00000671890,
ENST00000671963,
ENST00000673056
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000499848,
ENSP00000499835,
ENSP00000379433,
ENSP00000347182,
ENSP00000405151,
ENSP00000242067,
ENSP00000313122,
ENSP00000500146,
ENSP00000499904,
ENSP00000499989
RefSeq:
NP_001334970.1,
NP_001028777.1,
XP_005249758.1,
NP_055266.2,
XP_011513569.1,
NP_001334965.1,
XP_011513567.1,
XP_016867483.1,
NP_001334968.1,
NP_001334971.1,
NP_001028776.1,
NP_001334967.1,
XP_011513572.1,
NP_001334975.1,
NP_001334974.1,
NP_001334966.1,
XP_016867479.1,
XP_011513571.1,
NP_001334972.1,
NP_001334973.1,
NP_001334969.1,
NP_001349608.1,
NP_940820.1,
XP_011513568.1
|
| Others |
UniRef100:
UniRef100_A0A5F9ZH14,
UniRef100_Q3SYG4,
UniRef100_A0A090N7W2,
UniRef100_A0A5F9ZGX9
UniRef90:
UniRef90_F7C418,
UniRef90_Q3SYG4,
UniRef90_F7HDG2
UniRef50:
UniRef50_Q3SYG4
UniGene:
Hs.372360
CCDS:
CCDS34618.1,
CCDS47572.1,
CCDS5441.1,
CCDS43566.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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