Q96KC2
SS
Gene name |
ARL5B (ARL8) |
Protein name |
ADP-ribosylation factor-like protein 5B |
Names |
ADP-ribosylation factor-like protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221079 |
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
2 structures for Q96KC2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1YZG | X-ray | 200 A | A | 1-179 | PDB |
| AF-Q96KC2-F1 | Predicted | AlphaFoldDB |
141 variants for Q96KC2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs2059817648 | 2 | G>R | No | TOPMed | |
| rs1430681869 | 4 | I>T | No | gnomAD | |
| rs1156293468 | 4 | I>V | No |
TOPMed gnomAD |
|
| rs199726601 | 5 | F>L | No |
TOPMed gnomAD |
|
| rs12767957 | 6 | A>P | No | Ensembl | |
| rs1373286630 | 6 | A>V | No | gnomAD | |
| rs1461209072 | 7 | K>E | No |
TOPMed gnomAD |
|
| rs1376778256 | 10 | S>T | No | gnomAD | |
| rs1312212120 | 11 | L>F | No | gnomAD | |
| rs976875294 | 12 | F>C | No | gnomAD | |
| COSM6065538 | 13 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780532011 | 15 | Q>E | No |
ExAC gnomAD |
|
| rs1307111743 | 15 | Q>R | No | gnomAD | |
| rs2059862114 | 18 | K>E | No | Ensembl | |
| rs563873388 | 19 | V>G | No | 1000Genomes | |
|
rs1192435103 COSM69720 |
20 | I>V | ovary Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1422469999 | 21 | I>L | No |
TOPMed gnomAD |
|
| rs1221230241 | 21 | I>M | No |
TOPMed gnomAD |
|
| rs749742702 | 21 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 22 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1321903304 | 29 | K>E | No | gnomAD | |
| rs1212679482 | 31 | T>S | No |
TOPMed gnomAD |
|
| rs1371962372 | 32 | I>V | No | gnomAD | |
| rs34260557 | 33 | L>F | No | Ensembl | |
| rs775435183 | 36 | F>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762667342 | 37 | L>V | No |
ExAC gnomAD |
|
| rs1482004738 | 38 | M>I | No |
TOPMed gnomAD |
|
| rs145630985 | 39 | N>I | No |
ESP ExAC gnomAD |
|
| rs145630985 | 39 | N>S | No |
ESP ExAC gnomAD |
|
| rs201735394 | 42 | V>F | No |
1000Genomes gnomAD |
|
| rs201735394 | 42 | V>I | No |
1000Genomes gnomAD |
|
| rs927130481 | 43 | H>D | No | Ensembl | |
| rs1421876648 | 44 | T>A | No | gnomAD | |
| rs1410790869 | 45 | S>C | No | gnomAD | |
| TCGA novel | 45 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1328203971 | 47 | T>A | No | gnomAD | |
| rs749993564 | 48 | I>T | No |
ExAC gnomAD |
|
| rs767134490 | 48 | I>V | No |
ExAC gnomAD |
|
| COSM1321426 | 49 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367712959 | 50 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1355449393 | 55 | I>L | No | gnomAD | |
| rs1243068229 | 57 | V>M | No | gnomAD | |
| rs1590226573 | 59 | N>D | No | Ensembl | |
| rs1195390250 | 59 | N>S | No |
TOPMed gnomAD |
|
| rs765747556 | 60 | T>S | No |
ExAC gnomAD |
|
| rs1214819809 | 61 | H>R | No | gnomAD | |
| rs753201239 | 61 | H>Y | No |
ExAC gnomAD |
|
|
rs1273232468 COSM3436421 |
63 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1339455050 | 64 | M>L | No | gnomAD | |
| rs2059872257 | 64 | M>T | No | Ensembl | |
| rs1422082061 | 67 | I>T | No |
TOPMed gnomAD |
|
| COSM4941308 | 69 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778240885 | 71 | E>G | No |
ExAC gnomAD |
|
| rs937046123 | 71 | E>K | No | Ensembl | |
| rs2059872335 | 72 | S>C | No | TOPMed | |
| COSM2132371 | 74 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751851248 | 74 | R>Q | No |
ExAC gnomAD |
|
| rs745953146 | 76 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1167558553 | 77 | W>* | No | gnomAD | |
| COSM4013249 | 77 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1321425 | 78 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769934764 | 78 | N>I | No |
ExAC gnomAD |
|
| rs769934764 | 78 | N>S | No |
ExAC gnomAD |
|
| rs2059872477 | 79 | T>R | No | Ensembl | |
| rs2059872512 | 80 | Y>C | No | TOPMed | |
| rs761581848 | 83 | N>K | No |
ExAC gnomAD |
|
| rs774945318 | 86 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2059892854 | 88 | I>V | No | Ensembl | |
| rs2059892868 | 89 | L>V | No | TOPMed | |
| rs1266068684 | 90 | V>I | No |
TOPMed gnomAD |
|
| rs1200847274 | 94 | I>V | No | TOPMed | |
| rs767949340 | 97 | E>K | No |
ExAC gnomAD |
|
| rs1266683391 | 98 | R>* | No |
TOPMed gnomAD |
|
| TCGA novel | 98 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | A>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs538867066 | 101 | I>V | No |
TOPMed gnomAD |
|
| rs750783693 | 104 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1036700453 | 104 | E>G | No | gnomAD | |
| rs1418471610 | 104 | E>K | No | gnomAD | |
| rs1418471610 | 104 | E>Q | No | gnomAD | |
| COSM4839315 | 105 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1170455527 | 107 | Y>H | No |
TOPMed gnomAD |
|
| rs756404404 | 108 | R>G | No |
ExAC gnomAD |
|
| rs2059893138 | 108 | R>T | No | TOPMed | |
| rs1426468832 | 109 | M>I | No | Ensembl | |
| rs1590228691 | 112 | H>D | No | TOPMed | |
| rs766626684 | 114 | D>Y | No |
ExAC gnomAD |
|
| rs755106816 | 116 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs753949171 | 116 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2059899464 | 118 | A>P | No | TOPMed | |
| rs752754033 | 122 | I>L | No |
ExAC TOPMed |
|
| rs752754033 | 122 | I>V | No |
ExAC TOPMed |
|
| rs1564867178 | 123 | F>C | No | Ensembl | |
| rs1320088519 | 123 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM3806886 | 129 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1229921883 | 129 | M>L | No | gnomAD | |
| rs777686752 | 131 | G>A | No |
ExAC gnomAD |
|
| rs756949714 | 132 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780924020 | 133 | M>V | No |
ExAC gnomAD |
|
| COSM916929 | 134 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1486307192 | 135 | A>T | No | gnomAD | |
| rs1239729090 | 135 | A>V | No |
TOPMed gnomAD |
|
| rs1287083227 | 136 | A>D | No | gnomAD | |
|
COSM3699877 rs1221099416 |
136 | A>S | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1221099416 | 136 | A>T | No |
TOPMed gnomAD |
|
| rs1421649857 | 138 | I>V | No | gnomAD | |
| rs372696681 | 139 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs372696681 | 139 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs142494924 | 143 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs2131646975 | 143 | T>N | No | 1000Genomes | |
| rs2059899892 | 144 | L>H | No | TOPMed | |
| rs2059899905 | 146 | S>T | No | Ensembl | |
| rs2059899923 | 147 | I>L | No |
TOPMed gnomAD |
|
| rs2059899969 | 149 | D>E | No | Ensembl | |
| rs11545714 | 149 | D>G | No | Ensembl | |
| rs777024389 | 149 | D>N | No |
ExAC TOPMed |
|
| rs759726684 | 150 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs2059900023 | 151 | P>S | No | Ensembl | |
| rs1435285854 | 152 | W>* | No | gnomAD | |
| rs2059900052 | 153 | H>Y | No | TOPMed | |
| rs752842238 | 154 | I>V | No |
ExAC gnomAD |
|
| rs2059900101 | 155 | Q>E | No | Ensembl | |
| rs771410625 | 165 | L>F | No | ExAC | |
| rs747241721 | 167 | Q>R | No | Ensembl | |
| rs781676669 | 168 | G>D | No |
ExAC gnomAD |
|
| rs2131647929 | 169 | L>V | No | Ensembl | |
| COSM4939241 | 172 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs376615353 | 173 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs376615353 | 173 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs376615353 | 173 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3866961 | 174 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs571052432 | 175 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1030361936 | 175 | R>Q | No |
TOPMed gnomAD |
|
| rs571052432 | 175 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1335346940 | 176 | I>V | No | TOPMed | |
| rs2059905151 | 177 | G>S | No |
TOPMed gnomAD |
|
| rs1235589468 | 178 | V>E | No |
TOPMed gnomAD |
|
| rs749556584 | 180 | R>E | No |
ExAC gnomAD |
|
| rs749556584 | 180 | R>Q | No |
ExAC gnomAD |
No associated diseases with Q96KC2
1 regional properties for Q96KC2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 15 - 135 | 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 |
| A6NH57 | ARL5C | Putative ADP-ribosylation factor-like protein 5C | Homo sapiens (Human) | 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 |
| 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 |
| MGLIFAKLWS | LFCNQEHKVI | IVGLDNAGKT | TILYQFLMNE | VVHTSPTIGS | NVEEIVVKNT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HFLMWDIGGQ | ESLRSSWNTY | YSNTEFIILV | VDSIDRERLA | ITKEELYRML | AHEDLRKAAV |
| 130 | 140 | 150 | 160 | 170 | |
| LIFANKQDMK | GCMTAAEISK | YLTLSSIKDH | PWHIQSCCAL | TGEGLCQGLE | WMTSRIGVR |