Q9NP72
PR
Gene name |
RAB18 |
Protein name |
Ras-related protein Rab-18 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22931 |
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 Q9NP72
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X3S | X-ray | 132 A | A | 1-182 | PDB |
| AF-Q9NP72-F1 | Predicted | AlphaFoldDB |
126 variants for Q9NP72
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs387906832 CA129062 RCV000023171 VAR_066495 |
24 | L>Q | Warburg micro syndrome 3 Warburg micro syndrome 3 (warbm3) WARBM3; abnormal endoplasmic reticulum structure; in fibroblasts ER spread away from the perinuclear region into the cell periphery and there is a loss of fragmentation of ER tubules [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs587776875 VAR_066496 RCV000023173 |
93 | R>missing | Warburg micro syndrome 3 WARBM3 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs587776875 VAR_066496 |
93 | R>del | WARBM3 [UniProt] | Yes |
UniProt dbSNP |
| VAR_086022 | 95 | T>M | WARBM3; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA150633 RCV000087132 rs587777151 |
95 | T>R | Warburg micro syndrome 3 Warburg micro syndrome 3 (warbm3) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000370517 CA10635306 rs748274360 |
100 | D>H | Warburg micro syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002522156 rs190213580 RCV000275979 CA5452391 |
132 | D>Y | Warburg micro syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001103333 CA376384618 rs1203985321 |
141 | R>Q | Variant assessed as Somatic; 0.0 impact. Warburg micro syndrome 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204531781 rs1023227619 |
2 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs745673875 CA5452099 |
2 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA376390097 rs745673875 |
2 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA376390106 rs1315455064 |
3 | E>G | No |
ClinGen gnomAD |
|
|
CA376390102 rs1445127484 |
3 | E>K | No |
ClinGen gnomAD |
|
|
rs1341093385 CA376390115 |
4 | D>V | No |
ClinGen gnomAD |
|
|
rs970292688 CA204531792 |
7 | T>I | No |
ClinGen Ensembl |
|
|
CA5452101 rs775260661 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 10 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376390148 rs1457154583 |
10 | K>R | No |
ClinGen gnomAD |
|
|
rs1175348007 CA376390152 |
11 | I>V | No |
ClinGen gnomAD |
|
|
rs1186290957 CA376390179 |
15 | G>C | No |
ClinGen gnomAD |
|
|
rs1007919312 CA204531846 |
16 | E>D | No |
ClinGen TOPMed |
|
|
CA5452105 rs375324027 |
16 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761909429 CA5452106 |
17 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866198345 CA204531877 |
18 | G>E | No |
ClinGen Ensembl |
|
|
rs765397927 CA5452107 |
19 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA376390225 rs1158843285 |
22 | S>Y | No |
ClinGen Ensembl |
|
|
CA5452232 rs750259620 |
31 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765278479 CA376380425 |
31 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5452231 rs765278479 |
31 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5452233 rs762941564 |
32 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022242187 CA204482324 |
38 | A>E | No |
ClinGen gnomAD |
|
|
CA376380511 rs1022242187 |
38 | A>V | No |
ClinGen gnomAD |
|
|
rs1467710527 CA376380518 |
39 | A>E | No |
ClinGen Ensembl |
|
|
CA204482326 rs375572465 |
41 | I>V | No |
ClinGen ESP gnomAD |
|
|
CA376382458 rs1432420631 |
48 | K>I | No |
ClinGen TOPMed |
|
|
CA5452252 rs148786103 |
50 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216007062 CA376382529 COSM267300 |
53 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5452253 rs766310091 |
54 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439670762 CA376382581 |
56 | K>R | No |
ClinGen TOPMed |
|
|
CA5452254 rs774326530 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376382650 rs1589579689 |
60 | A>E | No |
ClinGen Ensembl |
|
|
CA5452256 rs767743901 |
61 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233728610 CA376384072 |
63 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376384090 rs1272462964 |
65 | A>V | No |
ClinGen gnomAD |
|
|
CA204501830 rs143902436 |
66 | G>D | No |
ClinGen ESP |
|
| TCGA novel | 74 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204501843 rs1047532726 |
75 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5452320 rs763362656 |
77 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426492457 CA376384175 |
78 | Y>H | No |
ClinGen TOPMed |
|
|
rs752038343 CA5452322 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1367230224 CA376384225 |
85 | I>M | No |
ClinGen gnomAD |
|
|
COSM1158303 rs1564836569 CA376384223 |
85 | I>T | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs149119294 CA5452323 |
85 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA204503012 rs923637028 |
88 | Y>D | No |
ClinGen Ensembl |
|
|
CA376384264 rs1464710510 |
89 | D>E | No |
ClinGen TOPMed |
|
|
rs758029669 CA5452350 |
91 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754972070 CA5452353 |
96 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA5452356 rs756197082 |
100 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5452355 rs748274360 |
100 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1347223569 CA376384339 |
101 | N>S | No |
ClinGen gnomAD |
|
|
rs771260466 CA5452359 |
106 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774821644 CA5452360 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772643393 CA5452362 |
109 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA204503130 rs781522998 |
109 | Y>H | No |
ClinGen gnomAD |
|
|
CA5452363 rs775791521 |
110 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs761162480 CA5452364 |
111 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1260451234 CA376384414 |
112 | R>K | No |
ClinGen gnomAD |
|
|
CA376384417 rs1463838102 |
112 | R>S | No |
ClinGen gnomAD |
|
|
CA376384419 rs1216050051 |
113 | N>D | No |
ClinGen gnomAD |
|
|
VAR_051713 CA5452365 rs12268932 |
113 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5452367 rs762633809 |
114 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189602931 CA376384426 |
114 | D>N | No |
ClinGen gnomAD |
|
|
CA5452368 rs765906124 |
115 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA5452369 rs751390474 |
116 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA5452370 rs754673363 |
118 | M>T | No |
ClinGen ExAC |
|
|
rs1158673039 CA376384461 |
119 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767497313 CA5452371 |
120 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376384489 rs1455481946 |
123 | K>I | No |
ClinGen gnomAD |
|
|
CA5452372 rs752748726 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756109187 CA5452373 |
126 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376384537 rs1589588739 |
128 | N>S | No |
ClinGen Ensembl |
|
|
CA204503373 rs140686479 |
129 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770628607 CA5452387 |
129 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs140686479 CA5452386 |
129 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376384547 rs773809598 |
130 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5452388 rs773809598 |
130 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1469847453 CA376384554 |
131 | V>A | No |
ClinGen TOPMed |
|
|
CA5452389 rs759222021 |
131 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs190213580 CA5452392 |
132 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376384573 rs1349691044 |
134 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000192819 rs757213835 CA205910 |
136 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs866252168 CA204503462 |
140 | A>S | No |
ClinGen Ensembl |
|
|
rs1564837215 CA376384617 |
141 | R>* | No |
ClinGen Ensembl |
|
|
CA376384648 rs1272745724 |
145 | M>R | No |
ClinGen gnomAD |
|
|
rs1589588857 CA376384644 |
145 | M>V | No |
ClinGen Ensembl |
|
|
rs886046967 CA10635667 |
152 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1455217397 CA376385633 |
156 | D>G | No |
ClinGen gnomAD |
|
|
rs750873430 CA204507126 |
160 | C>Y | No |
ClinGen Ensembl |
|
|
rs1242645151 CA376385737 |
162 | F>L | No |
ClinGen gnomAD |
|
|
rs750482558 CA5452413 |
163 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5452414 rs758578439 |
165 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs959454974 CA204507141 |
167 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA376385826 rs1321422540 |
168 | K>T | No |
ClinGen TOPMed |
|
|
CA376385839 rs1216489947 |
169 | I>V | No |
ClinGen TOPMed |
|
|
CA376385858 rs144034484 |
170 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5452415 rs144034484 |
170 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751934056 CA5452416 |
172 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1274475792 CA376385911 |
174 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781533200 CA5452418 |
176 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA204507175 CA376386018 rs868407151 |
180 | N>K | No |
ClinGen gnomAD |
|
|
CA376386023 rs1190239709 |
181 | Q>E | No |
ClinGen gnomAD |
|
|
CA376386037 rs1327738908 |
182 | N>H | No |
ClinGen TOPMed |
|
|
RCV001169856 rs1834935337 |
184 | G>missing | No |
ClinVar dbSNP |
|
|
rs1458215448 CA376386065 |
184 | G>E | No |
ClinGen TOPMed |
|
|
CA5452419 rs748661537 |
184 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756623116 CA5452421 |
196 | G>E | No |
ClinGen ExAC gnomAD |
|
|
VAR_034432 rs11015859 CA154823 |
198 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1187367908 CA376386262 |
202 | Y>C | No |
ClinGen TOPMed |
|
|
CA376386259 rs1376577588 |
202 | Y>H | No |
ClinGen gnomAD |
|
|
CA204507197 rs387906833 |
207 | L>K | Warburg micro syndrome 3 (warbm3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA129065 rs387906833 |
207 | L>Q | Warburg micro syndrome 3 (warbm3) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q9NP72
[MIM: 614222]: Warburg micro syndrome 3 (WARBM3)
A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:21473985, ECO:0000269|PubMed:23420520}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. {ECO:0000269|PubMed:21473985, ECO:0000269|PubMed:23420520}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum tubular network | A subcompartment of the endoplasmic reticulum consisting of tubules having membranes with high curvature in cross-section. |
| 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. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include 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. |
| secretory granule membrane | The lipid bilayer surrounding a secretory granule. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GDP binding | Binding to GDP, guanosine 5'-diphosphate. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| endoplasmic reticulum tubular network organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum (ER) tubular network. The ER tubular network is the ER part that that has membranes with high curvature in cross-section. |
| eye development | The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. |
| 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. |
| lipid droplet organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lipid particle. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q0IIG8 | RAB18 | Ras-related protein Rab-18 | Bos taurus (Bovine) | PR |
| Q5ZLG1 | RAB18 | Ras-related protein Rab-18 | Gallus gallus (Chicken) | PR |
| Q9NRW1 | RAB6B | Ras-related protein Rab-6B | Homo sapiens (Human) | PR |
| Q5JT25 | RAB41 | Ras-related protein Rab-41 | Homo sapiens (Human) | PR |
| P20340 | RAB6A | Ras-related protein Rab-6A | 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 |
| P35293 | Rab18 | Ras-related protein Rab-18 | Mus musculus (Mouse) | PR |
| Q5EB77 | Rab18 | Ras-related protein Rab-18 | Rattus norvegicus (Rat) | PR |
| Q6DHC1 | rab18b | Ras-related protein Rab-18-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDEDVLTTLK | ILIIGESGVG | KSSLLLRFTD | DTFDPELAAT | IGVDFKVKTI | SVDGNKAKLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IWDTAGQERF | RTLTPSYYRG | AQGVILVYDV | TRRDTFVKLD | NWLNELETYC | TRNDIVNMLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GNKIDKENRE | VDRNEGLKFA | RKHSMLFIEA | SAKTCDGVQC | AFEELVEKII | QTPGLWESEN |
| 190 | 200 | ||||
| QNKGVKLSHR | EEGQGGGACG | GYCSVL |