Q811G0
PR
Gene name |
Bbs9 (Pthb1) |
Protein name |
Protein PTHB1 |
Names |
Bardet-Biedl syndrome 9 protein homolog, Parathyroid hormone-responsive B1 gene protein homolog |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:319845 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q811G0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q811G0-F1 | Predicted | AlphaFoldDB |
43 variants for Q811G0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389004345 | 18 | E>K | No | EVA | |
| rs3389023998 | 40 | I>F | No | EVA | |
| rs3388978860 | 43 | G>R | No | EVA | |
| rs3389004342 | 101 | R>P | No | EVA | |
| rs3389019262 | 102 | K>T | No | EVA | |
| rs3389024041 | 108 | V>I | No | EVA | |
| rs3389023508 | 131 | L>I | No | EVA | |
| rs225152462 | 139 | T>M | No | EVA | |
| rs3389030404 | 217 | D>A | No | EVA | |
| rs3389036973 | 226 | K>E | No | EVA | |
| rs3389028067 | 231 | K>E | No | EVA | |
| rs255265083 | 249 | C>Y | No | EVA | |
| rs3389019295 | 282 | K>N | No | EVA | |
| rs38243891 | 303 | T>I | No | EVA | |
| rs3389035838 | 359 | L>M | No | EVA | |
| rs3389019289 | 368 | A>T | No | EVA | |
| rs3389027878 | 393 | K>I | No | EVA | |
| rs3388997826 | 396 | K>N | No | EVA | |
| rs3389035841 | 464 | L>V | No | EVA | |
| rs3389004353 | 469 | D>E | No | EVA | |
| rs3389032890 | 469 | D>H | No | EVA | |
| rs3389031768 | 473 | F>I | No | EVA | |
| rs3389031799 | 473 | F>L | No | EVA | |
| rs223604779 | 476 | T>A | No | EVA | |
| rs217076218 | 482 | S>N | No | EVA | |
| rs3389035816 | 520 | R>W | No | EVA | |
| rs3389031764 | 538 | Q>L | No | EVA | |
| rs3389009655 | 544 | S>N | No | EVA | |
| rs3389031813 | 572 | D>E | No | EVA | |
| rs3389035824 | 577 | M>I | No | EVA | |
| rs864296809 | 641 | L>I | No | EVA | |
| rs3389028124 | 655 | R>Q | No | EVA | |
| rs36314942 | 711 | A>G | No | EVA | |
| rs3389009647 | 725 | G>C | No | EVA | |
| rs3389032932 | 762 | T>S | No | EVA | |
| rs213213056 | 778 | L>F | No | EVA | |
| rs3399886632 | 813 | L>M | No | EVA | |
| rs3389023994 | 839 | P>S | No | EVA | |
| rs3389023459 | 843 | T>I | No | EVA | |
| rs3389031739 | 868 | L>H | No | EVA | |
| rs586793748 | 872 | P>H | No | EVA | |
| rs583693581 | 872 | P>S | No | EVA | |
| rs215582551 | 880 | R>H | No | EVA |
No associated diseases with Q811G0
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| BBSome | A ciliary protein complex involved in cilium biogenesis. It consists of at least seven Bardet-Biedl syndrome (BBS) proteins and BBIP10. It moves in association with IFT trains through cilia (likely as an IFT-A/B adaptor or cargo), and is required for the integrity of IFT-A and IFT-B. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| ciliary transition zone | A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| pericentriolar material | A network of small fibers that surrounds the centrioles in cells; contains the microtubule nucleating activity of the centrosome. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| protein localization to cilium | A process in which a protein is transported to, or maintained in, a location within a cilium. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SYG4 | BBS9 | Protein PTHB1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLFKARDWW | STVLGEKEEF | DQGCLCLADV | DNSGNGHDKI | IVGSFMGYLR | IFSPHSVKAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGPQAEDLLL | EVHLRDPVLQ | VEVGKFVSGT | EMLHLAVLHS | RKLCVYSVSG | TLGNVEHGNQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YQIKLMYEHH | LQRTACNMTY | GPFGGVKGRD | LICIQSLDGM | LMVFEQESYA | FGRFLPGFLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGPLAYSPRT | DSFITVSSCR | QVESYKYQVL | AFATDADKKQ | EMEQQKLGSG | KRLVVDWTLN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IGEQALDICI | FPLNQSASSV | FVLGERNFFC | LKDNGQIRFM | KKLGYNPSCF | LPYCSVSEGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| INTLIGNHNH | MLHIYQDVTL | KWATQLPHVP | VAVRVGCFHD | LKGVIVTLSD | DGHLQCSYLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDPSLFQAPK | VESRELNYDE | LDVELKELQK | IIKDVKLQGV | WPLTEQEDDL | KVSASVSSTL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DSVSQATNVE | PGADSVPSIT | VKITLQNRVV | LQKVKLSIYV | QPPLQLTCDQ | FTFDFTVPDM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TSSVAFSVYL | KRNYTPSELE | GNAVVSYSRP | TDRNPDGIPR | VVQCKFRLPL | KLICLPGQPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KTASHKLTID | TNKSPVSLLG | LFPDFANPSD | DDQVNVMGFR | LLGGARVTLL | ASRTSQRYRI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QSEQFEDLWL | ITNELILRLQ | EHFEKQGTKD | FSCSFSGCVP | LQEYFELIDH | HFELRINGKK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LEELLSERAV | QFRAIQRRLL | TRFRDKTPAP | LQHLDTLLDG | TYKQVIALAD | AIEENQDRLL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QSFSGLKSAT | HLLILLIRLW | QRLSADQTAI | LEAAFLPLQE | DTQELGWEET | VDAAIAYLLK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TCLSKSSKEQ | ALNLSSQLNI | PKDTSRLKKH | ITLLCDRLAK | GGRLCVSTDA | AAPQAMVVPG |
| 850 | 860 | 870 | 880 | ||
| GCTPIPESDL | EERSLDDSTE | LFTNHKHLMT | EPPMPEVSAR | QGVLE |