Q5JT25
PR
Gene name |
RAB41 |
Protein name |
Ras-related protein Rab-41 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:347517 |
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 Q5JT25
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5JT25-F1 | Predicted | AlphaFoldDB |
135 variants for Q5JT25
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs925642108 CA330975438 |
2 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs925642108 CA413479730 |
2 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781741786 CA10440609 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430587541 CA413479788 |
6 | H>D | No |
ClinGen gnomAD |
|
|
rs1430587541 CA413479790 |
6 | H>Y | No |
ClinGen gnomAD |
|
|
rs1569223928 CA413479819 |
7 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10440611 rs746401277 |
7 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10440610 rs746401277 |
7 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 8 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413479842 rs1327645907 |
9 | A>P | No |
ClinGen TOPMed |
|
|
rs771678630 CA10440614 |
14 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746735653 CA10440616 |
17 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10440617 rs770723281 |
19 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM757729 CA330975469 rs908074553 |
19 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA330975483 rs867171807 |
19 | E>V | No |
ClinGen Ensembl |
|
|
CA10440619 rs145142471 |
22 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA330975491 rs949761322 |
23 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765340904 CA10440620 |
24 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775493347 CA10440621 |
27 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290599030 CA413480247 |
32 | S>F | No |
ClinGen gnomAD |
|
|
CA413480249 rs1234753418 |
33 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10440623 rs139017779 |
38 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1270098468 CA413480352 |
39 | E>V | No |
ClinGen gnomAD |
|
| rs780258439 | 41 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758369807 CA10440624 |
41 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372933858 CA10440627 |
42 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372933858 CA10440626 |
42 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368216498 CA10440653 |
43 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10440654 rs371894275 |
44 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1315915442 CA413480511 |
45 | T>S | No |
ClinGen gnomAD |
|
|
rs1296981843 CA413480531 |
46 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA413480535 rs1361876303 |
47 | I>V | No |
ClinGen gnomAD |
|
|
rs905976322 CA330975720 |
50 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10440655 rs375268434 |
50 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 51 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10440656 rs146258911 |
52 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774624394 CA413480706 |
57 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774624394 CA10440659 |
57 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10440662 COSM1715093 rs773484731 |
59 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10440663 rs143036193 |
59 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766788295 CA10440664 |
61 | Q>R | No |
ClinGen ExAC |
|
|
CA413480804 rs1389769042 |
62 | A>E | No |
ClinGen gnomAD |
|
|
CA413480802 rs1461672423 |
62 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413480807 rs1389769042 |
62 | A>V | No |
ClinGen gnomAD |
|
|
rs746040742 CA330975835 |
63 | T>S | No |
ClinGen Ensembl |
|
|
rs777100273 CA10440684 |
67 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1569224241 CA413480893 |
71 | K>E | No |
ClinGen Ensembl |
|
|
rs760034226 COSM257843 CA10440685 |
71 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1281843833 CA413480911 |
73 | M>I | No |
ClinGen gnomAD |
|
|
CA413480906 rs1444747167 |
73 | M>V | No |
ClinGen gnomAD |
|
|
CA10440687 rs775990844 |
77 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413481045 rs1304576897 |
91 | E>K | No |
ClinGen TOPMed |
|
|
CA10440705 rs148216458 |
92 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413481054 rs1339622797 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1289172250 CA413481097 |
98 | P>R | No |
ClinGen gnomAD |
|
|
CA10440709 rs772839418 |
101 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413481121 rs1602728131 |
102 | R>C | No |
ClinGen Ensembl |
|
|
CA10440710 rs192757082 |
102 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10440711 rs765986108 |
103 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10440712 rs765986108 |
103 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1373761514 CA413481136 |
104 | S>* | No |
ClinGen gnomAD |
|
|
CA413481145 rs1172125090 |
106 | I>V | No |
ClinGen TOPMed |
|
|
rs765155378 CA10440714 |
107 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404416454 CA413481167 |
109 | V>A | No |
ClinGen gnomAD |
|
|
CA10440715 rs752650226 |
111 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs61752445 CA10440716 |
114 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769276079 CA10440727 |
117 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10440728 rs774722255 |
118 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA413481243 rs1412631539 |
119 | F>S | No |
ClinGen TOPMed |
|
|
rs372114031 CA330976078 |
122 | T>A | No |
ClinGen Ensembl |
|
|
rs1453524821 CA413481266 |
122 | T>R | No |
ClinGen gnomAD |
|
|
rs1289922706 CA413481275 |
123 | D>E | No |
ClinGen gnomAD |
|
|
CA10440730 rs770366371 |
125 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436576639 CA413481296 |
126 | V>G | No |
ClinGen gnomAD |
|
|
rs1334192219 CA413481311 |
128 | H>R | No |
ClinGen gnomAD |
|
|
rs762193575 CA10440732 |
129 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs762193575 CA413481317 |
129 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA330976081 rs1001340197 |
129 | V>M | No |
ClinGen TOPMed |
|
|
rs767819350 CA330976082 |
130 | R>* | No |
ClinGen Ensembl |
|
|
CA10440733 rs765102291 |
130 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762661634 CA10440735 |
131 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10440734 rs752597095 |
131 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757319597 CA10440738 |
136 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA413481361 rs1242651098 |
137 | V>I | No |
ClinGen gnomAD |
|
|
rs2297873 CA10440739 |
139 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10440740 rs2297873 |
139 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs937413614 CA330976095 |
140 | M>V | No |
ClinGen Ensembl |
|
|
CA330976098 rs761672207 |
143 | G>D | No |
ClinGen 1000Genomes |
|
|
rs780395150 CA10440743 |
146 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264492326 CA413481428 |
147 | D>H | No |
ClinGen TOPMed |
|
|
rs749585249 CA10440744 |
150 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA330976109 rs764882403 |
151 | K>* | No |
ClinGen 1000Genomes |
|
|
CA413481459 rs1328123422 |
151 | K>T | No |
ClinGen TOPMed |
|
|
rs775297269 CA10440756 |
153 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA330976257 rs138151490 |
161 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA10440758 rs111713621 |
164 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10440759 rs751484280 |
168 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10440762 rs750570350 |
178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147205885 CA330976295 |
179 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA413481833 rs1402904998 |
181 | V>M | No |
ClinGen gnomAD |
|
|
rs1361304714 CA413481946 |
185 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199675508 CA10440789 |
186 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA330976564 rs199563246 |
186 | R>W | No |
ClinGen ESP TOPMed |
|
|
rs773143706 CA10440790 |
187 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs760694654 CA10440791 |
187 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754057507 CA10440793 |
190 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10440794 rs768213022 |
192 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776356963 CA10440795 |
195 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10440796 rs144696308 |
195 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10440797 rs758837104 |
197 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413482141 rs1442469776 |
199 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162403958 CA413482162 |
201 | P>S | No |
ClinGen gnomAD |
|
|
CA413482182 rs1205720440 |
203 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA413482197 rs1414323699 |
204 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 204 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269133291 CA413482247 |
205 | T>M | No |
ClinGen TOPMed |
|
|
CA413482207 rs1316090901 |
205 | T>P | No |
ClinGen gnomAD |
|
|
RCV000887321 rs773970714 |
206 | V>missing | No |
ClinVar dbSNP |
|
|
CA330976745 rs953760410 |
206 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413482266 rs1569224927 |
208 | I>V | No |
ClinGen Ensembl |
|
|
CA413482277 rs1403935889 |
209 | E>D | No |
ClinGen gnomAD |
|
|
rs148533869 COSM1124414 CA10440814 |
209 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10440815 rs758796462 |
211 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413482283 rs758796462 |
211 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA330976759 rs912713418 |
212 | S>C | No |
ClinGen TOPMed |
|
|
CA413482294 rs912713418 |
212 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752092150 CA10440817 |
214 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413482327 rs1440454082 |
217 | G>R | No |
ClinGen gnomAD |
|
|
CA10440818 rs757901240 |
220 | S>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5JT25
1 regional properties for Q5JT25
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 33 - 187 | IPR005225 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| intra-Golgi vesicle-mediated transport | The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network). |
| 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. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
21 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 |
| O95755 | RAB36 | Ras-related protein Rab-36 | Homo sapiens (Human) | PR |
| Q9BZG1 | RAB34 | Ras-related protein Rab-34 | 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 |
| Q9NP72 | RAB18 | Ras-related protein Rab-18 | Homo sapiens (Human) | PR |
| A4D1S5 | RAB19 | Ras-related protein Rab-19 | Homo sapiens (Human) | PR |
| Q9ULC3 | RAB23 | Ras-related protein Rab-23 | Homo sapiens (Human) | PR |
| P20339 | RAB5A | Ras-related protein Rab-5A | Homo sapiens (Human) | PR |
| Q8CAM5 | Rab36 | Ras-related protein Rab-36 | Mus musculus (Mouse) | PR |
| P35279 | Rab6a | Ras-related protein Rab-6A | Mus musculus (Mouse) | PR |
| P61294 | Rab6b | Ras-related protein Rab-6B | 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 |
| Q9LFT9 | RABH1E | Ras-related protein RABH1e | Arabidopsis thaliana (Mouse-ear cress) | 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 |
| Q9LV79 | RABH1A | Ras-related protein RABH1a | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAFGHDEAW | MEAGGFGLEA | AERTEYQSLC | KSKLLFLGEQ | SVGKTSIISR | FMYNSFGCAC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QATVGIDFLS | KTMYLEDQIV | QLQLWDTAGQ | ERFHSLIPSY | IRDSTIAVVV | YDITNINSFK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ETDKWVEHVR | AERGDDVVIM | LLGNKIDLDN | KRQVTAEQGE | EKSRNLNVMF | IETSAKTGYN |
| 190 | 200 | 210 | 220 | ||
| VKKLFRRVAS | ALLSTRTSPP | PKEGTVEIEL | ESFEESGNRS | YC |