Q15771
PR
Gene name |
RAB30 |
Protein name |
Ras-related protein Rab-30 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27314 |
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
2 structures for Q15771
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EW1 | X-ray | 200 A | A | 2-184 | PDB |
| AF-Q15771-F1 | Predicted | AlphaFoldDB |
105 variants for Q15771
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs766174338 CA6209195 |
2 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA382188377 rs1189071723 |
3 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142448864 CA226017629 |
6 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs1204062406 CA382188290 |
11 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376604970 CA226017628 |
18 | A>T | No |
ClinGen ESP gnomAD |
|
|
rs984533006 CA226017627 |
19 | G>S | No |
ClinGen Ensembl |
|
|
rs774223378 CA6209190 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6209189 rs768489278 |
27 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 33 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 33 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371542882 CA382187875 |
34 | F>S | No |
ClinGen TOPMed |
|
| rs1565269818 | 36 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463730087 CA382187858 |
37 | G>R | No |
ClinGen TOPMed |
|
|
CA6209174 rs767052105 |
38 | Q>P | No |
ClinGen ExAC |
|
|
rs1403294244 CA382187831 |
41 | T>K | No |
ClinGen gnomAD |
|
|
rs1345143054 CA382187827 |
42 | I>V | No |
ClinGen gnomAD |
|
|
CA6209173 rs761290275 |
47 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs763982612 CA6209171 |
51 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459763508 CA382187743 |
54 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 58 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382187488 rs1313975011 |
63 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6209147 rs759374007 |
72 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6209146 rs776881407 |
75 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs188764000 CA226016761 |
77 | S>N | No |
ClinGen 1000Genomes |
|
|
CA226016760 rs867394561 |
80 | R>* | No |
ClinGen Ensembl |
|
|
rs760759599 CA6209144 |
83 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM545304 rs1565267609 CA382187314 |
89 | Y>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA226016759 rs766492640 |
89 | Y>H | No |
ClinGen Ensembl |
|
|
CA382187317 rs766492640 |
89 | Y>N | No |
ClinGen Ensembl |
|
|
rs772642769 CA6209142 |
91 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382187295 rs1271908434 |
92 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372077786 CA6209141 |
98 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779624249 CA6209140 |
98 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1351932608 CA382187231 |
101 | P>L | No |
ClinGen TOPMed |
|
|
CA382187206 rs1424524874 |
105 | R>G | No |
ClinGen gnomAD |
|
|
rs780860864 CA6209137 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382187199 rs1590835032 |
106 | E>G | No |
ClinGen Ensembl |
|
|
CA382187193 rs1590835028 |
107 | I>V | No |
ClinGen Ensembl |
|
|
CA6209136 rs756870224 |
109 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590835016 CA382187172 |
110 | Y>N | No |
ClinGen Ensembl |
|
|
rs147083051 CA6209134 |
112 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA226016757 rs1042042044 |
114 | K>E | No |
ClinGen TOPMed |
|
|
rs11233400 CA226016756 |
115 | V>G | No |
ClinGen gnomAD |
|
|
rs1221433205 CA382187104 |
120 | V>M | No |
ClinGen gnomAD |
|
|
CA382187097 rs1275023767 |
121 | G>C | No |
ClinGen gnomAD |
|
|
CA382187038 rs1470993739 |
124 | I>M | No |
ClinGen gnomAD |
|
|
CA6209118 rs780281834 |
124 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770258296 CA6209117 |
126 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285395653 CA382187020 |
127 | A>T | No |
ClinGen TOPMed |
|
|
CA226016254 rs948668348 |
129 | R>K | No |
ClinGen Ensembl |
|
|
CA6209116 rs746625629 |
130 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6209115 rs777449780 |
131 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371863767 CA226016253 |
134 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs1175285190 CA382186945 |
136 | R>* | No |
ClinGen gnomAD |
|
|
CA226016252 rs886599600 |
136 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 139 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6209113 rs752235044 |
141 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA382186892 rs1565265750 |
142 | E>A | No |
ClinGen Ensembl |
|
|
CA6209112 rs200575153 |
142 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382186885 rs1459583412 |
143 | A>S | No |
ClinGen gnomAD |
|
|
CA382186882 rs1266344189 |
143 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984104967 CA226016251 |
145 | D>N | No |
ClinGen Ensembl |
|
|
CA6209111 rs754885957 |
146 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6209110 rs753602820 |
147 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1239234790 CA382186852 |
147 | Y>H | No |
ClinGen gnomAD |
|
|
rs750429270 CA226016250 |
148 | Y>H | No |
ClinGen Ensembl |
|
|
CA6209108 rs562803637 |
151 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562803637 CA226016249 |
151 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA382186789 rs1376714143 |
154 | K>N | No |
ClinGen gnomAD |
|
|
CA382186792 rs1489808646 |
154 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455065187 CA382186756 |
158 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767894160 CA6209106 |
160 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382186708 rs1347157200 |
164 | L>F | No |
ClinGen gnomAD |
|
|
CA226016247 rs918662721 |
169 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6209103 rs149145222 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs763361745 CA6209102 |
172 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6209100 rs374719284 |
176 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382186624 rs1205229890 |
176 | Q>R | No |
ClinGen gnomAD |
|
|
CA382186616 rs1486590343 |
177 | N>S | No |
ClinGen gnomAD |
|
|
rs772809552 CA6209098 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6209095 rs201557234 |
184 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200193596 CA226016246 |
186 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200193596 CA6209094 |
186 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312691224 CA382186536 |
190 | E>K | No |
ClinGen gnomAD |
|
|
CA600713483 rs1382821763 |
190 | E>V | No |
ClinGen gnomAD |
|
|
CA226016245 rs544059659 |
194 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM545306 CA6209093 rs749170427 |
197 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780091937 CA6209092 |
198 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs762525956 CA6209087 |
200 | C>* | No |
ClinGen ExAC |
|
|
CA6209085 rs750278773 |
202 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767803584 CA226016243 |
203 | N>H | No |
ClinGen ExAC |
|
|
rs757553902 CA6209083 |
203 | N>K | No |
ClinGen ExAC |
|
|
rs767803584 CA6209084 |
203 | N>Y | No |
ClinGen ExAC |
|
|
CA226016242 rs760399692 |
204 | N>Y | No |
ClinGen TOPMed |
No associated diseases with Q15771
1 regional properties for Q15771
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 10 - 163 | IPR005225 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cis-Golgi network | The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. |
| Golgi cisterna | Any of the thin, flattened membrane-bounded compartments that form the central portion of the Golgi complex. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
| Rab protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rab family of proteins switching to a GTP-bound active state. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O00194 | RAB27B | Ras-related protein Rab-27B | Homo sapiens (Human) | PR |
| P51159 | RAB27A | Ras-related protein Rab-27A | Homo sapiens (Human) | PR |
| Q9BZG1 | RAB34 | Ras-related protein Rab-34 | Homo sapiens (Human) | PR |
| O95755 | RAB36 | Ras-related protein Rab-36 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSMEDYDFLF | KIVLIGNAGV | GKTCLVRRFT | QGLFPPGQGA | TIGVDFMIKT | VEINGEKVKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QIWDTAGQER | FRSITQSYYR | SANALILTYD | ITCEESFRCL | PEWLREIEQY | ASNKVITVLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GNKIDLAERR | EVSQQRAEEF | SEAQDMYYLE | TSAKESDNVE | KLFLDLACRL | ISEARQNTLV |
| 190 | 200 | ||||
| NNVSSPLPGE | GKSISYLTCC | NFN |