A6NH57
SS
Gene name |
ARL5C (ARL12) |
Protein name |
Putative ADP-ribosylation factor-like protein 5C |
Names |
ADP-ribosylation factor-like protein 12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:390790 |
EC number |
|
Protein Class |
|
Descriptions
Small GTPases couple their GDP/GTP structural cycle to cytosol/membrane alternation to function as versatile molecular switches in the cell. Membrane localization of their active, GTP-bound form is pivotal to their ability to propagate information, and this requires their post-translational modification by lipids.<br>Arf GTPases are modified by a myristate attached to their N-terminus, which is shielded by intramolecular interactions in their inactive state. The myristoylated N-terminus of Arf is autoinhibitory in solution and is displaced by membranes, priming Arf GTPases for activation by their GEFs. Replacement of the N-terminal myristate by a 6xHis-tag preserves autoinhibition, representing that membranes unlock the N-terminal region to facilitate subsequent activation.
Autoinhibitory domains (AIDs)
Target domain |
15-140 (Small GTP-binding protein domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for A6NH57
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NH57-F1 | Predicted | AlphaFoldDB |
183 variants for A6NH57
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1344927309 | 2 | G>R | No |
TOPMed gnomAD |
|
| rs2045459991 | 4 | L>Q | No | Ensembl | |
| rs2144051531 | 5 | I>T | No | Ensembl | |
| rs1313626233 | 7 | K>R | No |
TOPMed gnomAD |
|
| rs1244081123 | 9 | M>I | No | gnomAD | |
| rs2045459941 | 10 | S>G | No | TOPMed | |
| rs939415196 | 10 | S>N | No |
TOPMed gnomAD |
|
| rs372247327 | 11 | I>N | No |
ESP TOPMed gnomAD |
|
| rs943588013 | 13 | G>R | No |
TOPMed gnomAD |
|
| rs2045459866 | 15 | Q>* | No | gnomAD | |
| TCGA novel | 15 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1337804374 | 16 | E>G | No |
TOPMed gnomAD |
|
| rs2045459851 | 16 | E>K | No | TOPMed | |
| rs1343443566 | 17 | H>R | No | gnomAD | |
| rs1411363532 | 17 | H>Y | No |
TOPMed gnomAD |
|
| rs890600392 | 18 | T>M | No | TOPMed | |
| rs1322757614 | 20 | I>N | No | gnomAD | |
| rs1405861025 | 22 | V>G | No | gnomAD | |
| rs1050775139 | 22 | V>L | No | Ensembl | |
| rs1836341285 | 25 | D>V | No |
TOPMed gnomAD |
|
| rs1392846001 | 26 | N>D | No |
TOPMed gnomAD |
|
| rs1392846001 | 26 | N>Y | No |
TOPMed gnomAD |
|
| rs2045456247 | 27 | E>G | No | TOPMed | |
| rs1597669717 | 27 | E>K | No | 1000Genomes | |
| rs2045456204 | 28 | G>E | No | TOPMed | |
| rs9912267 | 31 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1459669150 | 32 | I>F | No | TOPMed | |
| rs1459669150 | 32 | I>V | No | TOPMed | |
| rs868432618 | 34 | Y>C | No | gnomAD | |
| rs201652972 | 34 | Y>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185189243 | 35 | R>P | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs185189243 | 35 | R>Q | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs1267234579 | 35 | R>W | No |
TOPMed gnomAD |
|
| rs2045455969 | 36 | F>I | No | TOPMed | |
| rs544012799 | 36 | F>Y | No | gnomAD | |
| rs2144046972 | 38 | T>I | No | Ensembl | |
| rs657723 | 39 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs657723 | 39 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs796884035 | 40 | E>D | No |
TOPMed gnomAD |
|
| rs796514183 | 40 | E>K | No | Ensembl | |
| rs1268305430 | 41 | V>A | No | gnomAD | |
| rs1036937141 | 42 | V>A | No | Ensembl | |
| rs907384369 | 42 | V>I | No |
TOPMed gnomAD |
|
| rs1365897841 | 43 | H>R | No |
TOPMed gnomAD |
|
| rs1321931172 | 44 | M>I | No | gnomAD | |
| rs1004669888 | 44 | M>T | No |
TOPMed gnomAD |
|
| rs1758716000 | 45 | C>R | No | TOPMed | |
| rs2045441536 | 46 | P>S | No | Ensembl | |
| rs1449916640 | 47 | T>I | No | gnomAD | |
| rs657672 | 52 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1427726919 | 53 | E>* | No |
TOPMed gnomAD |
|
| rs1427726919 | 53 | E>K | No |
TOPMed gnomAD |
|
| rs373678556 | 54 | E>D | No | ESP | |
| rs566016510 | 55 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1426966088 | 56 | I>M | No | TOPMed | |
| rs61749062 | 58 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs61749062 | 58 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1190582732 | 60 | T>I | No | gnomAD | |
| rs931656934 | 61 | H>D | No |
TOPMed gnomAD |
|
| rs931656934 | 61 | H>Y | No |
TOPMed gnomAD |
|
| rs2045441203 | 63 | F>L | No | Ensembl | |
| rs544198 | 64 | M>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2144046767 | 64 | M>T | No | Ensembl | |
| rs1211123299 | 67 | I>M | No | gnomAD | |
| rs765912991 | 69 | R>K | No | Ensembl | |
| rs1195930747 | 70 | P>L | No | gnomAD | |
| rs2045441092 | 70 | P>S | No | TOPMed | |
| rs776280011 | 72 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs776280011 | 72 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2045441029 | 72 | A>V | No | gnomAD | |
| rs923835662 | 75 | F>C | No | gnomAD | |
| rs2045440996 | 77 | W>R | No | Ensembl | |
| rs2144046695 | 80 | Y>* | No | Ensembl | |
| rs1243053820 | 80 | Y>H | No |
TOPMed gnomAD |
|
| rs1243053820 | 80 | Y>N | No |
TOPMed gnomAD |
|
| rs1377854325 | 82 | S>F | No |
TOPMed gnomAD |
|
| rs371774362 | 82 | S>T | No |
ESP TOPMed gnomAD |
|
| rs1377854325 | 82 | S>Y | No |
TOPMed gnomAD |
|
| rs1276705264 | 83 | N>D | No | TOPMed | |
| rs1597668671 | 84 | T>A | No | Ensembl | |
| rs2045440868 | 84 | T>I | No | TOPMed | |
| rs550194233 | 86 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs531950163 | 88 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2045433966 | 88 | I>V | No | gnomAD | |
| rs1165561289 | 91 | I>T | No |
TOPMed gnomAD |
|
| rs753207809 | 92 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2144045006 | 93 | S>G | No | Ensembl | |
| rs1409953518 | 93 | S>T | No | gnomAD | |
| rs779985444 | 94 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1253682282 | 95 | D>G | No | gnomAD | |
| rs906866666 | 96 | R>G | No |
TOPMed gnomAD |
|
| rs759106338 | 96 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs906866666 | 96 | R>W | No |
TOPMed gnomAD |
|
| rs2045433629 | 97 | D>G | No | Ensembl | |
| rs1326464068 | 97 | D>N | No |
TOPMed gnomAD |
|
| rs1267052865 | 98 | R>G | No |
TOPMed gnomAD |
|
| rs1228649450 | 98 | R>Q | No |
TOPMed gnomAD |
|
| rs1267052865 | 98 | R>W | No |
TOPMed gnomAD |
|
| rs1385516355 | 100 | L>P | No | gnomAD | |
| rs1294643019 | 102 | T>I | No | gnomAD | |
| rs1294643019 | 102 | T>N | No | gnomAD | |
| TCGA novel | 102 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767380922 | 103 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs767380922 | 103 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs767380922 | 103 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs199517979 | 103 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1597668242 | 104 | E>G | No | Ensembl | |
| rs1457942237 | 104 | E>K | No |
1000Genomes TOPMed gnomAD |
|
| rs1597668238 | 105 | E>G | No | Ensembl | |
| rs1414551708 | 105 | E>K | No |
TOPMed gnomAD |
|
| rs1410628841 | 107 | Y>C | No | gnomAD | |
| rs2144044866 | 107 | Y>H | No | Ensembl | |
| rs1432400138 | 109 | M>V | No |
TOPMed gnomAD |
|
| rs560559460 | 112 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1463123343 | 113 | E>* | No |
TOPMed gnomAD |
|
| rs1463123343 | 113 | E>K | No |
TOPMed gnomAD |
|
| rs1169143455 | 114 | A>V | No |
TOPMed gnomAD |
|
| rs2045430132 | 116 | Q>E | No |
TOPMed gnomAD |
|
| rs1473335592 | 116 | Q>H | No | gnomAD | |
| rs16522 | 116 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs573557004 | 117 | D>N | No |
1000Genomes ExAC gnomAD |
|
| rs1463225710 | 119 | S>L | No | TOPMed | |
| rs2045429994 | 124 | A>V | No | gnomAD | |
| rs2045429945 | 125 | N>K | No | gnomAD | |
| rs370682508 | 125 | N>S | No |
ESP TOPMed gnomAD |
|
| rs1229152836 | 126 | K>E | No | gnomAD | |
| rs200547902 | 126 | K>R | No |
TOPMed gnomAD |
|
| rs1285817252 | 127 | Q>* | No |
TOPMed gnomAD |
|
| rs1293550171 | 129 | V>A | No | Ensembl | |
|
rs779464290 COSM1740392 |
129 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs772078985 | 130 | K>R | No |
TOPMed gnomAD |
|
| rs1205540346 | 131 | D>N | No |
TOPMed gnomAD |
|
| rs1427646966 | 132 | S>C | No | gnomAD | |
| rs2045429751 | 133 | M>I | No | TOPMed | |
| rs754455729 | 133 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1275078518 | 133 | M>V | No | TOPMed | |
| rs1219987702 | 134 | R>G | No | TOPMed | |
| rs1597668035 | 135 | M>I | No | Ensembl | |
| rs753398341 | 135 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1478334781 | 137 | E>* | No | TOPMed | |
| rs1478334781 | 137 | E>K | No | TOPMed | |
| rs986269992 | 138 | I>N | No | Ensembl | |
| rs377482301 | 138 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1424025706 | 140 | H>N | No | gnomAD | |
| rs370101333 | 140 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1190446445 | 141 | F>L | No | gnomAD | |
| rs954948233 | 145 | S>N | No |
TOPMed gnomAD |
|
| rs2045429511 | 146 | T>I | No | gnomAD | |
| rs376949657 | 151 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1206527066 | 152 | W>* | No | gnomAD | |
| rs561637763 | 153 | H>R | No | 1000Genomes | |
| rs1366680173 | 153 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1244234102 | 154 | I>M | No | gnomAD | |
| rs1263721610 | 154 | I>T | No | gnomAD | |
| rs2045429395 | 154 | I>V | No | gnomAD | |
| rs1287158679 | 155 | Q>P | No | TOPMed | |
| rs1009967820 | 156 | G>D | No |
TOPMed gnomAD |
|
| rs1009967820 | 156 | G>V | No |
TOPMed gnomAD |
|
| rs956710099 | 157 | C>S | No |
TOPMed gnomAD |
|
| rs2144043955 | 158 | C>S | No | Ensembl | |
| rs2045429305 | 159 | A>T | No | TOPMed | |
| rs774423987 | 159 | A>V | No |
ExAC gnomAD |
|
| rs1349681651 | 160 | L>F | No | gnomAD | |
| rs2045429260 | 161 | T>S | No | gnomAD | |
| rs865780214 | 162 | R>G | No |
TOPMed gnomAD |
|
| rs759664891 | 163 | E>D | No |
ExAC gnomAD |
|
| rs1388577675 | 163 | E>K | No |
TOPMed gnomAD |
|
| rs2045429203 | 163 | E>V | No | gnomAD | |
| rs1293703915 | 164 | G>R | No | Ensembl | |
| rs1376360578 | 167 | A>T | No |
TOPMed gnomAD |
|
| rs1198814674 | 167 | A>V | No | gnomAD | |
| rs571349174 | 168 | R>G | No |
1000Genomes TOPMed gnomAD |
|
| TCGA novel | 169 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2045408713 | 169 | L>R | No | Ensembl | |
| rs1567779362 | 169 | L>V | No | Ensembl | |
| TCGA novel | 170 | Q>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs151045610 | 171 | W>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1369691597 | 172 | M>I | No | TOPMed | |
| rs1464602889 | 176 | A>V | No | gnomAD | |
| rs1386820813 | 177 | A>T | No | TOPMed | |
| rs2144038570 | 178 | A>S | No | Ensembl | |
| rs1225196998 | 179 | N>S | No | gnomAD | |
| rs1871435719 | 180 | N>del | No | TOPMed |
No associated diseases with A6NH57
1 regional properties for A6NH57
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 16 - 146 | IPR005225 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| protein localization to Golgi membrane | A process in which a protein is transported to, or maintained in, a location within a Golgi 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. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P84081 | ARF2 | ADP-ribosylation factor 2 | Bos taurus (Bovine) | SS |
| P84080 | ARF1 | ADP-ribosylation factor 1 | Bos taurus (Bovine) | SS |
| Q3SZF2 | ARF4 | ADP-ribosylation factor 4 | Bos taurus (Bovine) | SS |
| Q0VC18 | ARL4D | ADP-ribosylation factor-like protein 4D | Bos taurus (Bovine) | PR |
| Q2KJ96 | ARL5A | ADP-ribosylation factor-like protein 5A | Bos taurus (Bovine) | SS |
| P49702 | ARF5 | ADP-ribosylation factor 5 | Gallus gallus (Chicken) | SS |
| P40945 | Arf4 | ADP ribosylation factor 4 | Drosophila melanogaster (Fruit fly) | SS |
| P61209 | Arf1 | ADP-ribosylation factor 1 | Drosophila melanogaster (Fruit fly) | SS |
| P18085 | ARF4 | ADP-ribosylation factor 4 | Homo sapiens (Human) | EV |
| P49703 | ARL4D | ADP-ribosylation factor-like protein 4D | Homo sapiens (Human) | PR |
| P84077 | ARF1 | ADP-ribosylation factor 1 | Homo sapiens (Human) | EV |
| P84085 | ARF5 | ADP-ribosylation factor 5 | Homo sapiens (Human) | EV |
| Q8N4G2 | ARL14 | ADP-ribosylation factor-like protein 14 | Homo sapiens (Human) | SS |
| Q969Q4 | ARL11 | ADP-ribosylation factor-like protein 11 | Homo sapiens (Human) | PR |
| Q96KC2 | ARL5B | ADP-ribosylation factor-like protein 5B | Homo sapiens (Human) | SS |
| P62330 | ARF6 | ADP-ribosylation factor 6 | Homo sapiens (Human) | EV |
| Q8IVW1 | ARL17A | ADP-ribosylation factor-like protein 17 | Homo sapiens (Human) | SS |
| Q9H0F7 | ARL6 | ADP-ribosylation factor-like protein 6 | Homo sapiens (Human) | SS |
| P40616 | ARL1 | ADP-ribosylation factor-like protein 1 | Homo sapiens (Human) | SS |
| P61204 | ARF3 | ADP-ribosylation factor 3 | Homo sapiens (Human) | EV |
| Q9Y689 | ARL5A | ADP-ribosylation factor-like protein 5A | Homo sapiens (Human) | SS |
| P49076 | ARF1 | ADP-ribosylation factor | Zea mays (Maize) | SS |
| P84084 | Arf5 | ADP-ribosylation factor 5 | Mus musculus (Mouse) | SS |
| P61750 | Arf4 | ADP-ribosylation factor 4 | Mus musculus (Mouse) | SS |
| Q99PE9 | Arl4d | ADP-ribosylation factor-like protein 4D | Mus musculus (Mouse) | PR |
| P61205 | Arf3 | ADP-ribosylation factor 3 | Mus musculus (Mouse) | SS |
| P84078 | Arf1 | ADP-ribosylation factor 1 | Mus musculus (Mouse) | SS |
| Q8BSL7 | Arf2 | ADP-ribosylation factor 2 | Mus musculus (Mouse) | SS |
| Q6P068 | Arl5c | ADP-ribosylation factor-like protein 5C | Mus musculus (Mouse) | SS |
| Q80ZU0 | Arl5a | ADP-ribosylation factor-like protein 5A | Mus musculus (Mouse) | SS |
| Q9D4P0 | Arl5b | ADP-ribosylation factor-like protein 5B | Mus musculus (Mouse) | SS |
| P51824 | ADP-ribosylation factor 1 | Solanum tuberosum (Potato) | SS | |
| P84082 | Arf2 | ADP-ribosylation factor 2 | Rattus norvegicus (Rat) | SS |
| P84083 | Arf5 | ADP-ribosylation factor 5 | Rattus norvegicus (Rat) | SS |
| P36407 | Trim23 | E3 ubiquitin-protein ligase TRIM23 | Rattus norvegicus (Rat) | SS |
| P61751 | Arf4 | ADP-ribosylation factor 4 | Rattus norvegicus (Rat) | SS |
| P61206 | Arf3 | ADP-ribosylation factor 3 | Rattus norvegicus (Rat) | SS |
| P84079 | Arf1 | ADP-ribosylation factor 1 | Rattus norvegicus (Rat) | SS |
| P51646 | Arl5a | ADP-ribosylation factor-like protein 5A | Rattus norvegicus (Rat) | SS |
| Q06396 | Os01g0813400 | ADP-ribosylation factor 1 | Oryza sativa subsp. japonica (Rice) | SS |
| P51823 | ARF | ADP-ribosylation factor 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q10943 | arf-1.2 | ADP-ribosylation factor 1-like 2 | Caenorhabditis elegans | SS |
| P34212 | arl-5 | ADP-ribosylation factor-like protein 5 | Caenorhabditis elegans | SS |
| Q9LQC8 | ARF2-A | ADP-ribosylation factor 2-A | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P0DH91 | ARF2-B | ADP-ribosylation factor 2-B | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P40940 | ARF3 | ADP-ribosylation factor 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| P36397 | ARF1 | ADP-ribosylation factor 1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5M9P8 | arl6 | ADP-ribosylation factor-like protein 6 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGQLIAKLMS | IFGNQEHTVI | IVGLDNEGKT | TILYRFLTNE | VVHMCPTIGS | NVEEIILPKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HFFMWDIVRP | EALSFIWNTY | YSNTEFIILV | IDSTDRDRLL | TTREELYKML | AHEALQDASV |
| 130 | 140 | 150 | 160 | 170 | |
| LIFANKQDVK | DSMRMVEISH | FLTLSTIKDH | SWHIQGCCAL | TREGLPARLQ | WMESQAAAN |