Q9BZG1
Gene name |
RAB34 (RAB39, RAH) |
Protein name |
Ras-related protein Rab-34 |
Names |
Ras-related protein Rab-39, Ras-related protein Rah |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83871 |
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 Q9BZG1
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9BZG1-F1 | Predicted | AlphaFoldDB |
216 variants for Q9BZG1
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA289130528 rs1026261316 |
3 | I>T | No |
ClinGen Ensembl |
|
CA289130553 rs988185296 |
3 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA398401170 rs1361744966 |
5 | A>V | No |
ClinGen gnomAD |
|
rs958360393 CA289130526 |
6 | P>S | No |
ClinGen TOPMed |
|
CA398401161 rs1567738176 |
7 | V>M | No |
ClinGen Ensembl |
|
CA8466215 rs778569401 |
9 | R>G | No |
ClinGen ExAC gnomAD |
|
rs755004460 CA8466214 |
10 | D>N | No |
ClinGen ExAC gnomAD |
|
CA8466213 rs749161318 |
11 | R>S | No |
ClinGen ExAC gnomAD |
|
CA8466212 rs779659664 |
12 | V>I | No |
ClinGen ExAC gnomAD |
|
rs780822468 CA8466208 |
15 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 15 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8466207 rs756895497 |
16 | L>P | No |
ClinGen ExAC gnomAD |
|
CA398401027 rs1429527379 |
17 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA289130494 rs1023223196 |
18 | Q>P | No |
ClinGen TOPMed |
|
TCGA novel | 19 | C>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8466178 rs141216782 |
19 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762657234 CA398400891 |
23 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs762657234 CA8466175 |
23 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1434119142 CA398400821 |
27 | H>R | No |
ClinGen TOPMed |
|
CA398400811 rs1236653446 |
28 | G>R | No |
ClinGen gnomAD |
|
rs745779703 CA8466172 |
29 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA8466170 rs151293243 |
30 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398400770 rs1437184305 |
30 | K>R | No |
ClinGen TOPMed |
|
rs1218608862 CA398400698 |
34 | P>R | No |
ClinGen gnomAD |
|
CA8466169 rs746477626 |
35 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8466168 rs777305504 |
35 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA289130255 rs999262267 |
38 | C>F | No |
ClinGen Ensembl |
|
rs936693635 CA289130258 |
38 | C>R | No |
ClinGen TOPMed |
|
TCGA novel | 40 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398400618 rs1375687733 |
41 | Q>* | No |
ClinGen gnomAD |
|
CA398400599 rs1328921718 |
42 | E>K | No |
ClinGen gnomAD |
|
CA398400558 rs1422674741 |
44 | R>Q | No |
ClinGen gnomAD |
|
rs1360129104 CA398400547 |
45 | T>R | No |
ClinGen gnomAD |
|
rs1413269502 CA398400519 |
47 | T>I | No |
ClinGen gnomAD |
|
rs780553281 CA8466165 |
49 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398400322 rs1181062242 |
50 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398400304 rs1203151879 |
51 | K>N | No |
ClinGen TOPMed |
|
CA398400269 rs1471709541 |
53 | S>F | No |
ClinGen gnomAD |
|
CA289129773 rs11545697 |
54 | K>E | No |
ClinGen Ensembl |
|
rs756581417 CA8466143 |
56 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746190667 CA8466142 |
57 | V>A | No |
ClinGen ExAC gnomAD |
|
CA398400190 rs1483990202 |
59 | G>R | No |
ClinGen TOPMed |
|
TCGA novel | 59 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398400170 rs1567733851 |
60 | D>G | No |
ClinGen Ensembl |
|
CA8466141 rs781568212 |
60 | D>H | No |
ClinGen ExAC gnomAD |
|
rs757773764 CA8466140 |
62 | S>L | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1171075006 CA398400119 |
64 | G>R | No |
ClinGen TOPMed |
|
CA398400103 rs1597768843 |
65 | K>E | No |
ClinGen Ensembl |
|
rs1340345184 CA398400078 |
66 | T>I | No |
ClinGen gnomAD |
|
rs758656765 CA8466137 |
67 | C>S | No |
ClinGen ExAC |
|
rs778888217 CA8466136 |
69 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778888217 CA289129730 |
69 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765393450 CA8466135 |
70 | N>D | No |
ClinGen ExAC gnomAD |
|
rs368248729 CA8466117 |
71 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 75 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398399933 rs1387401094 |
75 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA398399930 rs1387401094 |
75 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1242105472 CA398399795 |
81 | Y>F | No |
ClinGen TOPMed |
|
CA8466113 rs760571428 |
83 | A>S | No |
ClinGen ExAC gnomAD |
|
CA398399737 rs1171107490 |
84 | T>I | No |
ClinGen gnomAD |
|
CA8466112 rs750408092 |
85 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567732776 CA398399608 |
90 | E>Q | No |
ClinGen Ensembl |
|
CA398399542 rs1178170449 |
92 | E>A | No |
ClinGen gnomAD |
|
rs1597766523 CA398399527 |
92 | E>D | No |
ClinGen Ensembl |
|
rs375545338 CA8466109 |
93 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375545338 CA8466110 |
93 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398399512 rs1266060351 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs768476656 CA8466108 |
94 | F>I | No |
ClinGen ExAC gnomAD |
|
rs1238483473 CA398399420 |
97 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs776896962 CA8466106 |
100 | P>A | No |
ClinGen ExAC gnomAD |
|
CA8466104 rs747285865 |
103 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1415079014 CA398399281 |
104 | Q>* | No |
ClinGen TOPMed |
|
CA289129537 rs200692938 |
105 | L>P | No |
ClinGen 1000Genomes |
|
CA398399155 rs1473732725 |
106 | W>* | No |
ClinGen TOPMed |
|
CA8466079 rs773445329 |
109 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs988904564 CA289129424 |
110 | G>W | No |
ClinGen TOPMed |
|
rs1597764082 CA398399072 |
111 | Q>* | No |
ClinGen Ensembl |
|
CA398398967 rs1311047739 |
113 | R>K | No |
ClinGen gnomAD |
|
CA398398972 rs1311047739 |
113 | R>T | No |
ClinGen gnomAD |
|
rs748632564 CA8466076 |
117 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398398857 rs1436587241 |
119 | S>L | No |
ClinGen TOPMed |
|
CA398398849 rs1282012964 |
120 | T>S | No |
ClinGen TOPMed |
|
CA398398796 rs1188671420 |
122 | Y>H | No |
ClinGen gnomAD |
|
CA398398772 rs1254632246 |
123 | R>* | No |
ClinGen gnomAD |
|
CA289129399 rs993800392 |
123 | R>K | No |
ClinGen TOPMed |
|
CA398398767 rs993800392 |
123 | R>T | No |
ClinGen TOPMed |
|
rs368931578 CA8466073 |
125 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398398712 rs1203706370 |
125 | A>V | No |
ClinGen TOPMed |
|
CA398398542 rs1344446595 |
130 | I>T | No |
ClinGen TOPMed |
|
CA289129302 rs886491758 |
130 | I>V | No |
ClinGen TOPMed |
|
CA8466049 rs746043124 |
133 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189869733 CA398398441 |
136 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA8466048 rs781521789 |
136 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1466509029 CA398398424 |
137 | V>E | No |
ClinGen gnomAD |
|
CA398398431 rs1173272376 |
137 | V>M | No |
ClinGen gnomAD |
|
CA398398393 rs1423512589 |
139 | S>C | No |
ClinGen gnomAD |
|
TCGA novel | 141 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1166688570 CA398398336 |
142 | H>R | No |
ClinGen gnomAD |
|
rs375689752 CA8466045 |
143 | T>N | No |
ClinGen ESP |
|
CA398397320 rs1452536252 |
144 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs372354441 CA8466044 |
144 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398397305 rs1356111075 |
145 | Q>L | No |
ClinGen Ensembl |
|
rs746859387 CA8466025 |
147 | L>P | No |
ClinGen ExAC gnomAD |
|
rs746859387 CA8466026 |
147 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA8466024 rs777706860 |
148 | A>G | No |
ClinGen ExAC gnomAD |
|
CA398397247 rs1334137584 |
148 | A>T | No |
ClinGen gnomAD |
|
CA398397232 rs777706860 |
148 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8466022 rs748013391 |
149 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA289129164 rs1029150984 |
150 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA398397054 rs1271222432 |
154 | N>K | No |
ClinGen gnomAD |
|
CA8466019 rs754475362 |
155 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA289129121 rs370732433 |
157 | S>C | No |
ClinGen ESP TOPMed |
|
rs370732433 CA289129114 |
157 | S>F | No |
ClinGen ESP TOPMed |
|
CA8466017 rs779691660 |
158 | S>R | No |
ClinGen ExAC TOPMed |
|
rs373902000 CA8466016 |
158 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398396935 rs1340564657 |
160 | L>F | No |
ClinGen gnomAD |
|
rs1352517542 CA398396915 |
161 | L>V | No |
ClinGen gnomAD |
|
CA289129078 rs971932267 |
163 | L>P | No |
ClinGen Ensembl |
|
CA8466015 rs751983240 |
164 | V>I | No |
ClinGen ExAC TOPMed |
|
rs548063948 CA8466014 |
165 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8466013 rs763332667 |
165 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1479942630 CA398396811 |
166 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1173794406 CA398396783 |
168 | K>T | No |
ClinGen TOPMed |
|
rs367763029 CA8466012 |
169 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
CA398396740 rs1391340927 |
170 | L>M | No |
ClinGen TOPMed |
|
CA289129049 rs529926528 |
171 | S>N | No |
ClinGen 1000Genomes |
|
rs1288823771 CA398396733 |
171 | S>R | No |
ClinGen TOPMed |
|
CA8465991 rs201771822 |
172 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201771822 CA8465992 |
172 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8465990 rs755538638 |
173 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465989 rs755538638 |
173 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465988 rs754011850 |
175 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA8465987 rs766545423 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760787696 CA8465986 |
179 | M>V | No |
ClinGen ExAC gnomAD |
|
CA289128932 rs762515620 |
180 | E>G | No |
ClinGen gnomAD |
|
rs773335418 CA8465985 |
180 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767710164 CA8465984 COSM1222927 COSM1222926 |
181 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8465982 rs149679668 |
182 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8465983 rs761523637 |
182 | D>V | No |
ClinGen ExAC gnomAD |
|
rs769328864 CA398396428 |
183 | A>D | No |
ClinGen ExAC gnomAD |
|
COSM284430 CA8465979 rs769328864 |
183 | A>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA8465980 rs376355510 |
183 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8465978 rs769328864 |
183 | A>V | No |
ClinGen ExAC gnomAD |
|
CA289128910 rs895698835 |
185 | Q>P | No |
ClinGen TOPMed |
|
CA398396374 rs1425653812 |
186 | V>A | No |
ClinGen gnomAD |
|
rs1171324772 CA398396368 |
187 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1171324772 CA398396361 |
187 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs925622590 CA289128885 |
188 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs1042758045 CA289128881 |
193 | E>K | No |
ClinGen TOPMed |
|
CA398396189 rs1292361580 |
194 | Y>N | No |
ClinGen TOPMed |
|
rs780723414 CA8465976 |
195 | W>R | No |
ClinGen ExAC gnomAD |
|
CA398396130 rs1488600743 |
196 | A>T | No |
ClinGen gnomAD |
|
CA289128867 rs12125 VAR_015097 |
197 | V>L | No |
ClinGen UniProt Ensembl dbSNP |
|
rs769408506 CA289128859 |
198 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA8465975 rs756922447 |
198 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377221783 CA8465973 |
199 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
rs4429342 CA289128829 |
200 | L>F | No |
ClinGen Ensembl |
|
rs1248926597 CA398396042 |
200 | L>P | No |
ClinGen TOPMed |
|
rs4429342 CA289128832 |
200 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs370068278 CA8465960 |
202 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs894000336 CA289128768 COSM1381742 |
203 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA398395885 rs1567727240 |
204 | N>K | No |
ClinGen Ensembl |
|
CA8465959 rs139219728 |
206 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs745430836 CA8465958 |
206 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1023011912 COSM1381741 CA289128764 |
207 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA398395818 rs776203692 |
208 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776203692 CA8465957 |
208 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398395772 rs1371065836 COSM560077 |
209 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA289128749 rs373753688 |
211 | R>C | No |
ClinGen gnomAD |
|
CA289128746 rs910197266 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs910197266 CA398395707 |
211 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA8465954 rs377233779 |
213 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1240501614 CA398395670 |
214 | A>T | No |
ClinGen gnomAD |
|
CA398395620 rs1362084572 |
216 | T>N | No |
ClinGen TOPMed |
|
CA398395562 rs1181491295 |
219 | A>S | No |
ClinGen gnomAD |
|
CA398395554 rs1258809203 |
220 | N>Y | No |
ClinGen gnomAD |
|
rs1182982992 CA398395534 |
221 | V>M | No |
ClinGen gnomAD |
|
CA8465952 rs755425112 |
223 | A>T | No |
ClinGen ExAC gnomAD |
|
rs780718448 CA8465950 |
224 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465951 rs749597197 |
224 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA398395455 rs1237999268 |
225 | L>V | No |
ClinGen gnomAD |
|
CA398395430 rs1597753527 |
226 | E>G | No |
ClinGen Ensembl |
|
CA398395441 rs1325155991 |
226 | E>K | No |
ClinGen TOPMed |
|
CA8465949 rs376343488 |
228 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 230 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8465946 rs757465924 |
231 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465947 rs757465924 |
231 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465945 rs751842603 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
CA8465944 rs139525649 |
232 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762752582 CA8465943 |
232 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465941 rs765227633 |
233 | I>T | No |
ClinGen ExAC gnomAD |
|
CA8465942 rs371761055 |
233 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398395330 rs1567726289 |
234 | G>W | No |
ClinGen Ensembl |
|
rs1157655480 CA398395318 |
235 | D>H | No |
ClinGen gnomAD |
|
CA8465940 rs759487638 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398395267 rs1480920063 |
237 | V>A | No |
ClinGen TOPMed |
|
rs776055012 CA8465939 |
238 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398395109 rs1225775440 |
243 | D>Y | No |
ClinGen TOPMed |
|
rs766161767 CA289128599 |
244 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766161767 CA8465921 |
244 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760245441 CA8465919 |
244 | S>N | No |
ClinGen ExAC gnomAD |
|
rs766161767 CA8465920 |
244 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150552930 CA8465918 |
245 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761523967 CA8465916 |
248 | L>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 249 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs535052273 CA8465915 |
249 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1339404958 CA398395033 |
249 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA8465914 rs535052273 |
249 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1021035418 CA398395016 |
251 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA289128584 rs1021035418 |
251 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA398394981 rs1224692481 |
253 | K>E | No |
ClinGen gnomAD |
|
CA8465913 rs746156114 |
253 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8465911 rs771331213 |
254 | K>N | No |
ClinGen ExAC gnomAD |
|
rs566631717 CA8465912 |
254 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA289128581 rs377289155 |
255 | P>L | No |
ClinGen ESP |
|
CA8465910 rs747162136 |
258 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BZG1
1 regional properties for Q9BZG1
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Small GTP-binding protein domain | 52 - 208 | IPR005225 |
Functions
9 GO annotations of cellular component
Name | Definition |
---|---|
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. |
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. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
Golgi cisterna | Any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex. |
Golgi stack | The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
4 GO annotations of molecular function
Name | Definition |
---|---|
GTP binding | Binding to GTP, guanosine triphosphate. |
GTP-dependent protein binding | Binding to a protein or protein complex when at least one of the interacting partners is in the GTP-bound state. |
GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
small GTPase binding | Binding to a small monomeric GTPase. |
10 GO annotations of biological process
Name | Definition |
---|---|
antigen processing and presentation | The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. |
cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
Golgi to plasma membrane protein transport | The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. |
lysosome localization | Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
phagosome maturation | A process that is carried out at the cellular level which results in the arrangement of constituent parts of a phagosome within a cell. Phagosome maturation begins with endocytosis and formation of the early phagosome and ends with the formation of the hybrid organelle, the phagolysosome. |
phagosome-lysosome fusion | The creation of a phagolysosome from a phagosome and a lysosome. |
positive regulation of smoothened signaling pathway | Any process that activates or increases the frequency, rate or extent of smoothened signaling. |
protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
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. |
20 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A6QR46 | RAB6B | Ras-related protein Rab-6B | Bos taurus (Bovine) | PR |
Q1KME6 | RAB6A | Ras-related protein Rab-6A | Gallus gallus (Chicken) | PR |
O18334 | Rab6 | Ras-related protein Rab6 | Drosophila melanogaster (Fruit fly) | PR |
Q5JT25 | RAB41 | Ras-related protein Rab-41 | Homo sapiens (Human) | PR |
Q9NRW1 | RAB6B | Ras-related protein Rab-6B | Homo sapiens (Human) | PR |
P20340 | RAB6A | Ras-related protein Rab-6A | Homo sapiens (Human) | PR |
Q15771 | RAB30 | Ras-related protein Rab-30 | Homo sapiens (Human) | PR |
O00194 | RAB27B | Ras-related protein Rab-27B | Homo sapiens (Human) | PR |
P51159 | RAB27A | Ras-related protein Rab-27A | Homo sapiens (Human) | PR |
O95755 | RAB36 | Ras-related protein Rab-36 | Homo sapiens (Human) | PR |
P35279 | Rab6a | Ras-related protein Rab-6A | Mus musculus (Mouse) | PR |
P61294 | Rab6b | Ras-related protein Rab-6B | Mus musculus (Mouse) | PR |
Q8CAM5 | Rab36 | Ras-related protein Rab-36 | Mus musculus (Mouse) | PR |
Q9WVB1 | Rab6a | Ras-related protein Rab-6A | Rattus norvegicus (Rat) | PR |
P34213 | rab-6.1 | Ras-related protein rab-6.1 | Caenorhabditis elegans | PR |
Q22782 | rab-6.2 | Ras-related protein rab-6.2 | Caenorhabditis elegans | PR |
O80501 | RABH1B | Ras-related protein RABH1b | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SMR4 | RABH1C | Ras-related protein RABH1c | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LFT9 | RABH1E | Ras-related protein RABH1e | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9LV79 | RABH1A | Ras-related protein RABH1a | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MNILAPVRRD | RVLAELPQCL | RKEAALHGHK | DFHPRVTCAC | QEHRTGTVGF | KISKVIVVGD |
70 | 80 | 90 | 100 | 110 | 120 |
LSVGKTCLIN | RFCKDTFDKN | YKATIGVDFE | MERFEVLGIP | FSLQLWDTAG | QERFKCIAST |
130 | 140 | 150 | 160 | 170 | 180 |
YYRGAQAIII | VFNLNDVASL | EHTKQWLADA | LKENDPSSVL | LFLVGSKKDL | STPAQYALME |
190 | 200 | 210 | 220 | 230 | 240 |
KDALQVAQEM | KAEYWAVSSL | TGENVREFFF | RVAALTFEAN | VLAELEKSGA | RRIGDVVRIN |
250 | |||||
SDDSNLYLTA | SKKKPTCCP |