Q9H0F7
SS
Gene name |
ARL6 (BBS3) |
Protein name |
ADP-ribosylation factor-like protein 6 |
Names |
Bardet-Biedl syndrome 3 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84100 |
EC number |
|
Protein Class |
|
Descriptions
Small GTPases couple their GDP/GTP structural cycle to cytosol/membrane alternation to function as versatile molecular switches in the cell. Membrane localization of their active, GTP-bound form is pivotal to their ability to propagate information, and this requires their post-translational modification by lipids.<br>Arf GTPases are modified by a myristate attached to their N-terminus, which is shielded by intramolecular interactions in their inactive state. The myristoylated N-terminus of Arf is autoinhibitory in solution and is displaced by membranes, priming Arf GTPases for activation by their GEFs. Replacement of the N-terminal myristate by a 6xHis-tag preserves autoinhibition, representing that membranes unlock the N-terminal region to facilitate subsequent activation.
Autoinhibitory domains (AIDs)
Target domain |
20-146 (Small GTP-binding protein domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9H0F7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2H57 | X-ray | 200 A | A/B/C | 16-186 | PDB |
| AF-Q9H0F7-F1 | Predicted | AlphaFoldDB |
201 variants for Q9H0F7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2107977736 RCV001987743 |
1 | M>V | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002246376 rs771628868 RCV001389155 |
2 | G>* | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs751957701 RCV001299985 |
6 | R>K | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751957701 RCV002030012 |
6 | R>T | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1186354 RCV001935453 rs963216166 |
10 | L>F | lung Bardet-Biedl syndrome 3 [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs535835888 RCV002016713 |
15 | K>E | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002272392 RCV001039876 rs748472414 |
16 | K>missing | Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493696 RCV002545148 rs201736026 RCV001324814 |
17 | E>K | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1282560467 RCV001974168 |
24 | G>E | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001851573 VAR_027643 RCV000002123 rs104893680 CA252069 RCV001723532 RCV003133114 COSM5344560 |
31 | T>M | Bardet-Biedl syndrome 3 Retinitis pigmentosa Variant assessed as Somatic; MODERATE impact. Retinitis pigmentosa (rp) BBS3; abrogates the GTP-binding ability without affecting GDP-binding/dissociating properties; increased proteasomal degradation [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000002125 RCV001063683 VAR_027644 rs104893680 CA252073 |
31 | T>R | Bardet-Biedl syndrome 3 Retinitis pigmentosa (rp) BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs746549147 RCV001892010 |
37 | L>V | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs201618364 RCV001315617 RCV001144482 RCV001144481 |
41 | N>D | Bardet-Biedl syndrome 3 Retinitis pigmentosa [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1488740103 RCV002045875 |
41 | N>S | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs757995078 RCV000821434 |
47 | I>N | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP |
|
RCV002027144 RCV002486737 rs895572972 |
48 | L>H | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1295586318 RCV002001298 |
56 | E>D | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001893191 rs2108031980 |
56 | E>Q | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs150667690 RCV002002301 |
66 | T>I | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001859272 rs2037147164 RCV003416217 RCV001330111 |
76 | Y>* | Bardet-Biedl syndrome 3 ARL6-related condition [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001313090 rs749599192 |
76 | Y>H | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001146404 RCV001144483 rs587777805 |
89 | A>D | Bardet-Biedl syndrome 3 Retinitis pigmentosa Retinitis pigmentosa 55 (rp55) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs587777805 RCV001146406 RCV001146405 RCV001858964 |
89 | A>G | Bardet-Biedl syndrome 3 Retinitis pigmentosa Retinitis pigmentosa 55 (rp55) [ClinVar, Ensembl] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA252075 rs587777805 RCV000002126 VAR_064184 RCV001257838 |
89 | A>V | Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 55 Retinitis pigmentosa 55 (rp55) RP55 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs137854907 RCV003764740 CA280042 RCV000058868 |
91 | I>T | Bardet-Biedl syndrome 3 Bardet-Biedl syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2505920 RCV000504758 RCV001376735 rs771054395 VAR_071405 |
94 | I>T | Bardet-Biedl syndrome 3 Retinitis pigmentosa Retinitis pigmentosa (rp) BBS3 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002265923 rs2037381055 RCV001199644 |
97 | S>R | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs763779778 RCV001146407 RCV001146408 |
102 | M>I | Bardet-Biedl syndrome 3 Retinitis pigmentosa [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774150149 RCV002003286 |
103 | V>F | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2037383699 RCV001057744 |
106 | K>R | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs200100002 COSM1049059 RCV001326738 RCV003399110 |
110 | D>N | Bardet-Biedl syndrome 3 Variant assessed as Somatic; MODERATE impact. ARL6-related condition endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2037385151 RCV001146410 RCV002557136 RCV001146409 |
114 | N>S | Bardet-Biedl syndrome 3 Retinitis pigmentosa [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002027443 rs1238121913 |
115 | H>R | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000408905 rs1057515576 CA16040626 |
117 | D>missing | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV002016332 rs370120886 |
117 | D>G | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs202044896 RCV000762374 RCV001372569 |
121 | R>C | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000171364 COSM2151836 RCV002485089 rs765715798 CA280069 RCV002469042 RCV001257839 RCV001852067 |
121 | R>H | Autosomal recessive retinitis pigmentosa Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 central_nervous_system Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002512667 COSM1425898 rs104893678 RCV000002120 CA252067 RCV001002871 |
122 | R>* | Variant assessed as Somatic; HIGH impact. Bardet-Biedl syndrome 3 large_intestine Bardet-Biedl syndrome [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142258123 RCV001149183 RCV001149182 |
122 | R>P | Bardet-Biedl syndrome 3 Retinitis pigmentosa [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001296333 RCV001146411 RCV001149181 RCV003425951 rs142258123 |
122 | R>Q | Bardet-Biedl syndrome 3 Retinitis pigmentosa Variant assessed as Somatic; MODERATE impact. ARL6-related condition [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001879934 rs2037541934 RCV001255192 |
125 | I>missing | Bardet-Biedl syndrome 3 Retinitis pigmentosa 55 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1463393274 RCV001938879 |
140 | S>P | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1418049586 RCV001909993 |
144 | S>P | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV003141905 RCV000981691 rs148745414 |
148 | C>G | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771963434 RCV001367634 |
153 | K>R | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559687672 RCV001906405 |
157 | W>C | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs567825969 RCV001410779 RCV002265995 |
161 | A>S | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001725799 rs1188627299 |
161 | A>V | Cone-rod dystrophy [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV003307825 RCV001042306 RCV003405230 rs146978266 |
165 | I>V | Bardet-Biedl syndrome 3 ARL6-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764523283 RCV001205616 |
167 | G>R | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068039 rs1402463567 |
169 | G>missing | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA115313 rs104893679 VAR_027645 RCV000002121 RCV002512668 RCV000002122 |
169 | G>A | Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome 3 BBS3; abrogates the GTP-binding ability; increased proteasomal degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
VAR_027646 rs104893681 CA252071 RCV000002124 |
170 | L>W | Bardet-Biedl syndrome 3 BBS3; abrogates the GTP-binding ability; increased proteasomal degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002026476 rs570080567 |
175 | D>A | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2037751886 RCV001199645 |
176 | W>C | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000399997 CA10616801 RCV000357796 rs886058938 |
176 | W>R | Bardet-Biedl syndrome 3 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750627875 RCV001868764 RCV002503253 RCV001755657 RCV003407802 |
177 | L>F | Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 3 ARL6-related condition [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2037752645 RCV001199405 |
179 | D>N | Bardet-Biedl syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs201105839 RCV001928886 |
180 | Q>* | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2038086555 RCV001227184 |
184 | V>missing | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1389543975 RCV001211174 |
184 | V>L | Bardet-Biedl syndrome 3 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
| rs1318142291 | 4 | L>P | No | gnomAD | |
| rs1305344070 | 6 | R>S | No | gnomAD | |
| rs766745411 | 7 | L>F | No |
ExAC gnomAD |
|
| rs759979636 | 11 | L>F | No |
ExAC gnomAD |
|
| COSM3598180 | 13 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1049056 | 14 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs143448615 | 15 | K>N | No |
ESP ExAC |
|
| rs1238374949 | 16 | K>E | No | TOPMed | |
| rs148230546 | 17 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1559668134 | 18 | V>I | No |
TOPMed gnomAD |
|
| rs750346766 | 19 | H>D | No |
ExAC gnomAD |
|
| rs748998582 | 22 | C>F | No |
ExAC gnomAD |
|
| rs1359075294 | 23 | L>P | No |
TOPMed gnomAD |
|
| rs1282560467 | 24 | G>V | No | TOPMed | |
| COSM3974608 | 26 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754773104 | 26 | D>Y | No |
ExAC TOPMed gnomAD |
|
| COSM1425896 | 28 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs747862553 | 32 | T>M | No |
ExAC gnomAD |
|
|
RCV001766259 rs2036476218 |
33 | I>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2036476061 | 33 | I>V | No | gnomAD | |
| rs2036476526 | 34 | I>M | No | TOPMed | |
| rs2036476663 | 35 | N>H | No | TOPMed | |
| rs1397777989 | 35 | N>S | No | TOPMed | |
| rs746549147 | 37 | L>F | No |
ExAC gnomAD |
|
| rs1208893419 | 39 | P>L | No |
TOPMed gnomAD |
|
| rs1405939085 | 40 | S>A | No | TOPMed | |
| rs1405939085 | 40 | S>P | No | TOPMed | |
| rs2108031659 | 42 | A>T | No | Ensembl | |
| rs1001283735 | 42 | A>V | No | gnomAD | |
| rs754763072 | 43 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs2037118468 | 44 | S>P | No | TOPMed | |
| rs778719960 | 46 | N>D | No | ExAC | |
| rs752322952 | 46 | N>S | No |
ExAC gnomAD |
|
| rs757995078 | 47 | I>S | No |
ExAC TOPMed |
|
| rs757995078 | 47 | I>T | No |
ExAC TOPMed |
|
| rs1207149091 | 49 | P>S | No | gnomAD | |
| TCGA novel | 50 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770485234 | 51 | I>M | No |
ExAC gnomAD |
|
| rs371013474 | 51 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2037120972 | 52 | G>A | No | Ensembl | |
| rs746458390 | 55 | I>T | No |
ExAC gnomAD |
|
| rs1411972340 | 55 | I>V | No | TOPMed | |
| TCGA novel | 56 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1360351374 | 58 | F>L | No | gnomAD | |
| rs770255102 | 59 | K>R | No |
ExAC gnomAD |
|
| rs770255102 | 59 | K>T | No |
ExAC gnomAD |
|
| COSM1049057 | 60 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1181443779 | 62 | S>T | No | Ensembl | |
|
rs1166582269 COSM1736357 |
63 | L>F | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs2037145964 | 67 | V>M | No | TOPMed | |
| rs770377692 | 68 | F>V | No |
ExAC gnomAD |
|
| rs780739267 | 70 | M>L | No |
ExAC gnomAD |
|
| rs780739267 | 70 | M>V | No |
ExAC gnomAD |
|
| rs1389539548 | 71 | S>L | No | gnomAD | |
| TCGA novel | 72 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM731373 | 76 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5165817 | 77 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335196581 | 78 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs576180978 | 78 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs774422821 | 79 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1332934100 | 81 | E>K | No | gnomAD | |
| rs1259103504 | 82 | H>Q | No | gnomAD | |
| rs541850084 | 82 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000998117 rs888140182 |
83 | Y>* | No |
ClinVar Ensembl dbSNP |
|
| rs2037148450 | 83 | Y>C | No | TOPMed | |
| rs2037149017 | 84 | Y>F | No | TOPMed | |
| rs375431319 | 84 | Y>H | No | ESP | |
| TCGA novel | 86 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748483591 | 86 | E>V | No |
ExAC gnomAD |
|
| rs1282482091 | 87 | G>D | No |
TOPMed gnomAD |
|
| rs747031395 | 92 | F>S | No |
ExAC gnomAD |
|
| rs1313648286 | 93 | V>L | No | gnomAD | |
|
COSM1425897 rs2037380307 |
94 | I>V | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs2037380614 | 95 | D>H | No | Ensembl | |
| rs1448646936 | 97 | S>N | No |
TOPMed gnomAD |
|
| rs1051086901 | 98 | D>G | No | TOPMed | |
| rs1051086901 | 98 | D>V | No | TOPMed | |
| rs1436497104 | 99 | R>G | No | gnomAD | |
| rs762984313 | 99 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs2037381927 | 99 | R>S | No | Ensembl | |
| rs1373645353 | 101 | R>G | No | gnomAD | |
| rs1434357322 | 101 | R>K | No | gnomAD | |
| rs761546116 | 103 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2037383485 | 105 | A>P | No | TOPMed | |
| rs2037383485 | 105 | A>S | No | TOPMed | |
| rs201336340 | 107 | E>A | No | Ensembl | |
| rs200100002 | 110 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs2037384407 | 111 | T>I | No |
TOPMed gnomAD |
|
| rs750115219 | 112 | L>P | No |
ExAC gnomAD |
|
| rs1269801640 | 113 | L>V | No |
TOPMed gnomAD |
|
| rs2037385151 | 114 | N>I | No |
TOPMed gnomAD |
|
| rs755672623 | 115 | H>N | No |
ExAC gnomAD |
|
| rs2108053934 | 115 | H>Q | No | Ensembl | |
| TCGA novel | 115 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3916775 | 116 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1049060 | 118 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766151035 | 118 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 124 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1363558325 | 124 | P>S | No | TOPMed | |
| rs2037542302 | 125 | I>T | No | TOPMed | |
| rs778145934 | 125 | I>V | No |
ExAC TOPMed gnomAD |
|
|
COSM447101 rs1559687469 |
127 | F>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs757426051 | 135 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1365402376 | 137 | A>G | No | TOPMed | |
| rs201172658 | 137 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM6165469 | 138 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2037544053 | 142 | K>N | No |
TOPMed gnomAD |
|
| COSM1425899 | 142 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2037544217 | 143 | V>G | No | TOPMed | |
| COSM731372 | 143 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778898938 | 147 | L>P | No |
ExAC gnomAD |
|
| rs148745414 | 148 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2037547080 | 149 | L>S | No | Ensembl | |
| rs1487153733 | 154 | D>H | No | TOPMed | |
| rs1487153733 | 154 | D>Y | No | TOPMed | |
| TCGA novel | 155 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1293572020 | 155 | K>Q | No | gnomAD | |
| rs1559687672 | 157 | W>* | No | gnomAD | |
| rs774204609 | 158 | H>R | No |
TOPMed gnomAD |
|
| COSM1049061 | 159 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200362616 | 163 | D>N | No | gnomAD | |
| rs762178069 | 166 | K>R | No | Ensembl | |
| rs2037749622 | 167 | G>E | No | Ensembl | |
| rs104893679 | 169 | G>V | No |
TOPMed gnomAD |
|
| rs104893681 | 170 | L>S | No | Ensembl | |
| COSM731371 | 172 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762152659 | 173 | G>V | No |
ExAC gnomAD |
|
| rs767838025 | 174 | V>I | No |
ExAC gnomAD |
|
| rs570080567 | 175 | D>G | No |
TOPMed gnomAD |
|
| rs2037751738 | 176 | W>* | No | gnomAD | |
|
rs727503808 RCV000152790 CA233470 |
178 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1576472641 | 178 | Q>R | No | Ensembl | |
| rs1282637757 | 179 | D>G | No | gnomAD | |
| rs1384763060 | 180 | Q>H | No | TOPMed | |
| rs2038085817 | 180 | Q>P | No | Ensembl | |
| rs1255511898 | 181 | I>N | No | gnomAD | |
|
rs1214682855 RCV001528740 |
182 | Q>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 182 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2108114836 | 185 | K>* | No | Ensembl |
2 associated diseases with Q9H0F7
[MIM: 600151]: Bardet-Biedl syndrome 3 (BBS3)
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613575]: Retinitis pigmentosa 55 (RP55)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. . Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9H0F7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 120 | IPR000008 |
| domain | HECT domain | 399 - 757 | IPR000569 |
| domain | WW domain | 234 - 267 | IPR001202-1 |
| domain | WW domain | 306 - 339 | IPR001202-2 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| axonemal microtubule | A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules. |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| membrane coat | Any of several different proteinaceous coats that can associate with membranes. Membrane coats include those formed by clathrin plus an adaptor complex, the COPI and COPII complexes, and possibly others. They are found associated with membranes on many vesicles as well as other membrane features such as pits and perhaps tubules. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction |
| metal ion binding | Binding to a metal ion. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
10 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. |
| determination of left/right symmetry | The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| melanosome transport | The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein localization to cilium | A process in which a protein is transported to, or maintained in, a location within a cilium. |
| protein polymerization | The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein. |
| protein targeting to membrane | The process of directing proteins towards a membrane, usually using signals contained within the protein. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KJ96 | ARL5A | ADP-ribosylation factor-like protein 5A | Bos taurus (Bovine) | SS |
| P84081 | ARF2 | ADP-ribosylation factor 2 | Bos taurus (Bovine) | SS |
| P84080 | ARF1 | ADP-ribosylation factor 1 | Bos taurus (Bovine) | SS |
| Q3SZF2 | ARF4 | ADP-ribosylation factor 4 | Bos taurus (Bovine) | SS |
| Q0VC18 | ARL4D | ADP-ribosylation factor-like protein 4D | Bos taurus (Bovine) | PR |
| P49702 | ARF5 | ADP-ribosylation factor 5 | Gallus gallus (Chicken) | SS |
| P40945 | Arf4 | ADP ribosylation factor 4 | Drosophila melanogaster (Fruit fly) | SS |
| P61209 | Arf1 | ADP-ribosylation factor 1 | Drosophila melanogaster (Fruit fly) | SS |
| Q8N4G2 | ARL14 | ADP-ribosylation factor-like protein 14 | Homo sapiens (Human) | SS |
| Q969Q4 | ARL11 | ADP-ribosylation factor-like protein 11 | Homo sapiens (Human) | PR |
| Q8IVW1 | ARL17A | ADP-ribosylation factor-like protein 17 | Homo sapiens (Human) | SS |
| P49703 | ARL4D | ADP-ribosylation factor-like protein 4D | Homo sapiens (Human) | PR |
| P62330 | ARF6 | ADP-ribosylation factor 6 | Homo sapiens (Human) | EV |
| P40616 | ARL1 | ADP-ribosylation factor-like protein 1 | Homo sapiens (Human) | SS |
| P18085 | ARF4 | ADP-ribosylation factor 4 | Homo sapiens (Human) | EV |
| P84085 | ARF5 | ADP-ribosylation factor 5 | Homo sapiens (Human) | EV |
| P61204 | ARF3 | ADP-ribosylation factor 3 | Homo sapiens (Human) | EV |
| P84077 | ARF1 | ADP-ribosylation factor 1 | Homo sapiens (Human) | EV |
| Q9Y689 | ARL5A | ADP-ribosylation factor-like protein 5A | Homo sapiens (Human) | SS |
| A6NH57 | ARL5C | Putative ADP-ribosylation factor-like protein 5C | Homo sapiens (Human) | SS |
| Q96KC2 | ARL5B | ADP-ribosylation factor-like protein 5B | Homo sapiens (Human) | SS |
| P49076 | ARF1 | ADP-ribosylation factor | Zea mays (Maize) | SS |
| P84084 | Arf5 | ADP-ribosylation factor 5 | Mus musculus (Mouse) | SS |
| P61750 | Arf4 | ADP-ribosylation factor 4 | Mus musculus (Mouse) | SS |
| Q99PE9 | Arl4d | ADP-ribosylation factor-like protein 4D | Mus musculus (Mouse) | PR |
| Q6P068 | Arl5c | ADP-ribosylation factor-like protein 5C | Mus musculus (Mouse) | SS |
| Q80ZU0 | Arl5a | ADP-ribosylation factor-like protein 5A | Mus musculus (Mouse) | SS |
| P61205 | Arf3 | ADP-ribosylation factor 3 | Mus musculus (Mouse) | SS |
| Q9D4P0 | Arl5b | ADP-ribosylation factor-like protein 5B | Mus musculus (Mouse) | SS |
| P84078 | Arf1 | ADP-ribosylation factor 1 | Mus musculus (Mouse) | SS |
| Q8BSL7 | Arf2 | ADP-ribosylation factor 2 | Mus musculus (Mouse) | SS |
| P51824 | ADP-ribosylation factor 1 | Solanum tuberosum (Potato) | SS | |
| P84082 | Arf2 | ADP-ribosylation factor 2 | Rattus norvegicus (Rat) | SS |
| P51646 | Arl5a | ADP-ribosylation factor-like protein 5A | Rattus norvegicus (Rat) | SS |
| P84083 | Arf5 | ADP-ribosylation factor 5 | Rattus norvegicus (Rat) | SS |
| P36407 | Trim23 | E3 ubiquitin-protein ligase TRIM23 | Rattus norvegicus (Rat) | SS |
| P61751 | Arf4 | ADP-ribosylation factor 4 | Rattus norvegicus (Rat) | SS |
| P61206 | Arf3 | ADP-ribosylation factor 3 | Rattus norvegicus (Rat) | SS |
| P84079 | Arf1 | ADP-ribosylation factor 1 | Rattus norvegicus (Rat) | SS |
| Q06396 | Os01g0813400 | ADP-ribosylation factor 1 | Oryza sativa subsp. japonica (Rice) | SS |
| P51823 | ARF | ADP-ribosylation factor 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q10943 | arf-1.2 | ADP-ribosylation factor 1-like 2 | Caenorhabditis elegans | SS |
| P34212 | arl-5 | ADP-ribosylation factor-like protein 5 | Caenorhabditis elegans | SS |
| Q9LQC8 | ARF2-A | ADP-ribosylation factor 2-A | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P0DH91 | ARF2-B | ADP-ribosylation factor 2-B | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P40940 | ARF3 | ADP-ribosylation factor 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P36397 | ARF1 | ADP-ribosylation factor 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5M9P8 | arl6 | ADP-ribosylation factor-like protein 6 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLLDRLSVL | LGLKKKEVHV | LCLGLDNSGK | TTIINKLKPS | NAQSQNILPT | IGFSIEKFKS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSLSFTVFDM | SGQGRYRNLW | EHYYKEGQAI | IFVIDSSDRL | RMVVAKEELD | TLLNHPDIKH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRIPILFFAN | KMDLRDAVTS | VKVSQLLCLE | NIKDKPWHIC | ASDAIKGEGL | QEGVDWLQDQ |
| IQTVKT |