P43487
Gene name |
RANBP1 |
Protein name |
Ran-specific GTPase-activating protein |
Names |
SCFR, Proto-oncogene c-Kit, Tyrosine-protein kinase Kit, Ran-binding protein 1, RanBP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5902 |
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
3 structures for P43487
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1K5D | X-ray | 270 A | B/E/H/K | 1-201 | PDB |
| 1K5G | X-ray | 310 A | B/E/H/K | 1-201 | PDB |
| AF-P43487-F1 | Predicted | AlphaFoldDB |
108 variants for P43487
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs888265731 CA322188054 |
2 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315900817 CA410722534 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1235039441 CA410722546 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs202049598 CA322189333 |
7 | T>A | No |
ClinGen Ensembl |
|
|
CA322189334 rs1002133449 |
7 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10108137 rs772778926 |
8 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10108138 rs141200787 |
10 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10108140 rs776990071 |
11 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393208667 CA410722748 |
12 | D>H | No |
ClinGen TOPMed |
|
|
rs759846029 CA10108141 |
14 | S>F | No |
ClinGen ExAC gnomAD |
|
| VAR_036567 | 16 | E>D | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA410722781 rs1244075667 |
17 | N>D | No |
ClinGen gnomAD |
|
|
CA322189359 rs753737885 |
18 | T>I | No |
ClinGen Ensembl |
|
|
rs1460303594 CA410722807 |
20 | E>D | No |
ClinGen TOPMed |
|
|
CA410722813 rs1205917225 |
21 | S>C | No |
ClinGen gnomAD |
|
|
CA10108144 rs763303315 |
21 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410722819 rs1166080494 |
22 | N>I | No |
ClinGen TOPMed |
|
|
CA322189402 rs765529450 |
23 | H>D | No |
ClinGen Ensembl |
|
|
rs557893626 CA10108146 |
25 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756055432 CA10108147 |
26 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs112943865 CA322189437 |
27 | F>S | No |
ClinGen Ensembl |
|
|
rs1362862198 CA410722890 |
32 | S>C | No |
ClinGen TOPMed |
|
|
rs753621407 CA410722924 |
35 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA410722953 rs1365008477 |
37 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1358259872 CA410723046 |
44 | D>E | No |
ClinGen gnomAD |
|
|
CA410723034 rs1331723716 |
44 | D>Y | No |
ClinGen gnomAD |
|
|
CA10108153 rs370443280 |
46 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759336871 CA10108185 |
51 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA410723139 rs1381755023 |
51 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10108188 rs758215616 |
57 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA10108189 rs763921981 |
59 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756998095 CA10108191 |
61 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10108194 rs745394823 |
63 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10108193 rs745394823 |
63 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs202103269 CA322192335 |
64 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs996606991 CA322192337 |
65 | P>R | No |
ClinGen TOPMed |
|
|
CA10108195 rs144901362 |
75 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772355561 CA322192368 |
82 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772355561 CA10108200 |
82 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191368966 CA410724558 |
84 | G>R | No |
ClinGen gnomAD |
|
|
rs1165405324 CA410724571 |
85 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10108202 rs375393752 |
87 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410724612 rs1456575617 |
89 | L>V | No |
ClinGen gnomAD |
|
|
rs1290899632 CA410724626 |
90 | M>T | No |
ClinGen gnomAD |
|
|
rs1038888637 CA322192403 |
91 | R>Q | No |
ClinGen TOPMed |
|
|
CA410724682 rs1602542121 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs368169084 CA10108206 |
104 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764502102 CA10108266 |
105 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs745898188 CA10108270 |
107 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10108269 rs188352527 |
107 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756164171 CA10108271 |
109 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10108274 COSM1414935 rs771917916 |
114 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1161055011 CA410725183 |
116 | S>N | No |
ClinGen gnomAD |
|
|
rs917545001 CA322197575 |
117 | D>N | No |
ClinGen Ensembl |
|
|
CA10108276 rs746834606 |
118 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410725241 rs1221805287 |
119 | A>V | No |
ClinGen TOPMed |
|
|
rs1602551584 CA410725322 |
124 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 128 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 129 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410725544 rs1392358264 |
134 | K>T | No |
ClinGen TOPMed |
|
|
rs1285741088 CA410725586 |
136 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1192557874 CA410725684 |
141 | R>H | No |
ClinGen gnomAD |
|
|
CA10108287 rs767917893 |
144 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs902976093 CA322197613 |
145 | A>T | No |
ClinGen TOPMed |
|
|
VAR_053629 CA322197619 rs5746863 |
145 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA322197623 rs934382136 |
146 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10108328 rs765398844 |
147 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1487861854 CA410727793 |
149 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410727861 rs1440147846 |
152 | K>* | No |
ClinGen gnomAD |
|
|
CA10108330 rs757190321 |
152 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244875569 CA410727894 |
153 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10108333 rs769969249 |
162 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410728078 rs1182521407 |
162 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1443000381 CA410728092 |
163 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410728095 rs1383356063 |
164 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10108334 rs536923215 |
165 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410728139 rs1407136376 |
167 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA410729422 rs1241939206 |
169 | A>G | No |
ClinGen TOPMed |
|
|
rs759533670 CA10108393 |
170 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1273658174 CA410729446 |
171 | S>L | No |
ClinGen TOPMed |
|
|
rs150530613 CA322198652 |
172 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA10108395 rs752498683 |
173 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10108396 rs372174173 |
174 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756772977 CA10108399 |
178 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324165575 CA410729543 |
178 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410729558 rs1480115101 |
179 | K>E | No |
ClinGen gnomAD |
|
|
rs780610564 CA10108400 |
181 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410729643 rs1568986565 |
185 | E>D | No |
ClinGen Ensembl |
|
|
CA410729651 rs1297863457 |
186 | A>G | No |
ClinGen gnomAD |
|
|
rs971346070 CA322198680 |
186 | A>S | No |
ClinGen Ensembl |
|
|
rs768710680 CA10108405 |
188 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA322198693 rs891175953 |
190 | K>M | No |
ClinGen TOPMed |
|
|
rs368678998 CA10108407 |
191 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322198720 rs919494336 |
192 | E>A | No |
ClinGen gnomAD |
|
|
CA410729710 rs1602556833 |
192 | E>D | No |
ClinGen Ensembl |
|
|
rs372271212 CA10108408 |
194 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10108409 rs772185902 |
195 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10108410 rs773220129 |
196 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs930941473 CA322198729 |
197 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410729777 rs1210222155 |
199 | E>K | No |
ClinGen gnomAD |
|
|
rs376753468 CA10108411 |
201 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with P43487
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| GDP-dissociation inhibitor activity | Prevents the dissociation of GDP from a GTPase, thereby preventing GTP from binding. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| small GTPase binding | Binding to a small monomeric GTPase. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| positive regulation of mitotic centrosome separation | Any process that activates or increases the frequency, rate or extent of centrosome separation. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3T0M7 | RANBP1 | Ran-specific GTPase-activating protein | Bos taurus (Bovine) | PR |
| Q86VV4 | RANBP3L | Ran-binding protein 3-like | Homo sapiens (Human) | PR |
| P34022 | Ranbp1 | Ran-specific GTPase-activating protein | Mus musculus (Mouse) | PR |
| Q9LMK7 | RANBP1A | Ran-binding protein 1 homolog a | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWG8 | RANBP1B | Ran-binding protein 1 homolog b | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P92985 | POX1 | Ran-binding protein 1 homolog c | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAKDTHED | HDTSTENTDE | SNHDPQFEPI | VSLPEQEIKT | LEEDEEELFK | MRAKLFRFAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENDLPEWKER | GTGDVKLLKH | KEKGAIRLLM | RRDKTLKICA | NHYITPMMEL | KPNAGSDRAW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VWNTHADFAD | ECPKPELLAI | RFLNAENAQK | FKTKFEECRK | EIEEREKKAG | SGKNDHAEKV |
| 190 | 200 | ||||
| AEKLEALSVK | EETKEDAEEK | Q |