P20340

PR
Gene name
RAB6A (RAB6)
Protein name
Ras-related protein Rab-6A
Names
Tumor necrosis factor receptor 2, TNF-R2, Tumor necrosis factor receptor type II, TNF-RII, TNFR-II, p75, p80 TNF-alpha receptor, 4-1BB ligand receptor, T-cell antigen 4-1BB, Rab-6
Species
Homo sapiens (Human)
KEGG Pathway
hsa:5870
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

144-208 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

7 structures for P20340

Entry ID Method Resolution Chain Position Source
1YZQ X-ray 178 A A 10-177 PDB
2GIL X-ray 182 A A/B/C/D 13-174 PDB
3BBP X-ray 300 A A/B/C 1-206 PDB
3CWZ X-ray 320 A A 8-195 PDB
4DKX X-ray 190 A A/B 1-208 PDB
5LEF X-ray 209 A A/B 8-195 PDB
AF-P20340-F1 Predicted AlphaFoldDB

75 variants for P20340

Variant ID(s) Position Change Description Diseaes Association Provenance
rs964249893
CA224970887
 2 S>A No ClinGen
TOPMed
rs771266786
CA6179820
 3 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6179821
rs544818668
 3 T>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1294039152
CA381974410
 5 G>A No ClinGen
TOPMed
CA6179818
rs750163981
 5 G>R No ClinGen
ExAC
gnomAD
CA6179817
rs767324950
 7 F>L No ClinGen
ExAC
gnomAD
rs1334407039
CA381974375
 10 P>Q No ClinGen
TOPMed
rs764146570
CA6179814
 13 K>R No ClinGen
ExAC
gnomAD
CA381974347
rs1174151772
 14 F>L No ClinGen
gnomAD
TCGA novel 31 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381975746
rs1308952864
 34 M>T No ClinGen
gnomAD
TCGA novel 43 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 44 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 50 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775389116
CA6179744
 52 S>P No ClinGen
ExAC
gnomAD
rs1324247023
CA381975533
 54 T>I No ClinGen
TOPMed
gnomAD
CA6179743
rs769884344
 58 E>K No ClinGen
ExAC
gnomAD
rs745982063
CA6179742
 59 D>G No ClinGen
ExAC
gnomAD
rs779168676
CA6179672
 64 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA6179671
rs755472992
 65 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 71 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 75 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA224965843
rs3182747
 76 R>S No ClinGen
Ensembl
CA224965841
rs3182750
 78 L>F No ClinGen
Ensembl
rs989523747
CA224965838
 83 I>V No ClinGen
Ensembl
CA381975074
rs1394008095
 84 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1161747920
CA381975067
 85 D>G No ClinGen
gnomAD
rs767045108
CA6179669
 87 T>S No ClinGen
ExAC
gnomAD
CA381975035
rs1590859057
 90 V>G No ClinGen
Ensembl
TCGA novel 92 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 93 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369227299
CA6179665
 94 D>A No ClinGen
ESP
ExAC
gnomAD
rs769442186
CA6179663
 95 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs775312541
CA6179664
 95 I>V No ClinGen
ExAC
gnomAD
TCGA novel 100 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6179638
rs760655546
 105 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1444591292
CA381974888
 108 I>V No ClinGen
gnomAD
TCGA novel 109 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA381974860
rs1590857192
 111 V>F No ClinGen
Ensembl
TCGA novel 121 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771441560
CA6179636
 130 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA381974649
rs1212198957
 136 V>L No ClinGen
TOPMed
gnomAD
rs766202038
CA6179621
 137 S>T No ClinGen
ExAC
gnomAD
CA6179620
rs570143405
 138 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs921237937
CA224964460
 141 G>A No ClinGen
Ensembl
rs1565356650
CA381974582
 146 K>E No ClinGen
Ensembl
rs767501575
CA6179618
 146 K>T No ClinGen
ExAC
gnomAD
CA6179617
rs761159395
 149 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA381974557
rs1377487695
 150 V>I No ClinGen
gnomAD
rs1449431161
CA381974547
 151 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 152 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6179615
rs140666806
 153 I>V No ClinGen
ESP
ExAC
gnomAD
CA6179614
rs748993275
 154 E>D No ClinGen
ExAC
gnomAD
CA6179613
rs775317770
 160 G>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 161 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1334040132
CA381974456
 164 K>R No ClinGen
gnomAD
CA381973600
rs1364019434
 168 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs934424914
CA224961146
 168 R>L No ClinGen
TOPMed
rs934424914
CA381973598
 168 R>Q No ClinGen
TOPMed
rs772090684
CA6179584
 169 R>C No ClinGen
ExAC
gnomAD
rs748239779
CA6179583
 169 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs912222774
CA224961145
 170 V>L No ClinGen
Ensembl
CA6179582
rs779038963
 173 A>V No ClinGen
ExAC
gnomAD
rs1373056262
COSM3810392
COSM3810393
CA381973555
 176 G>E breast [Cosmic] No ClinGen
cosmic curated
TOPMed
CA6179579
rs781085705
 177 M>T No ClinGen
ExAC
gnomAD
rs1265921156
CA381973523
 180 T>I No ClinGen
gnomAD
CA224961144
rs954399580
 183 R>G No ClinGen
Ensembl
rs1230000407
CA381973499
 184 S>G No ClinGen
gnomAD
rs911810426
CA224961142
 184 S>R No ClinGen
TOPMed
CA381973479
rs1336174511
 186 E>D No ClinGen
gnomAD
CA381973427
rs1459819241
 191 I>M No ClinGen
gnomAD
TCGA novel 191 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374282553
CA224960946
 193 L>P No ClinGen
ESP
TOPMed
RCV000883517
rs41298115
CA6179548
 205 G>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201030643
CA6179547
 207 S>F No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with P20340

1 regional properties for P20340

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 13 - 169 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus membrane ; Lipid-anchor
  • Cytoplasmic vesicle, secretory vesicle, acrosome membrane ; Peripheral membrane protein
  • BICD2 facilitates its targeting to Golgi apparatus membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

13 GO annotations of cellular component

Name Definition
acrosomal membrane The membrane that surrounds the acrosomal lumen. The acrosome is a special type of lysosome in the head of a spermatozoon that contains acid hydrolases and is concerned with the breakdown of the outer membrane of the ovum during fertilization.
cytoplasmic vesicle A vesicle found in the cytoplasm of a 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.
endosome to plasma membrane transport vesicle A transport vesicle that mediates transport from the endosome to the plasma membrane, and fuses with the plasma membrane to deliver lipids and membrane proteins to the plasma membrane and to release various cargo molecules, such as proteins or hormones, by exocytosis.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
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.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

4 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.
myosin V binding Binding to a class V myosin; myosin V is a dimeric molecule involved in intracellular transport.
protein domain specific binding Binding to a specific domain of a protein.

12 GO annotations of biological process

Name Definition
antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.
early endosome to Golgi transport The directed movement of substances from early endosomes to the Golgi.
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.
localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation.
minus-end-directed organelle transport along microtubule The directed movement of an organelle towards the minus end of a microtubule, mediated by motor proteins. This process begins with the attachment of an organelle to a microtubule, and ends when the organelle reaches its final destination.
neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
peptidyl-cysteine methylation The methylation of peptidyl-cysteine to form peptidyl-S-methyl-L-cysteine.
protein localization to Golgi apparatus A process in which a protein is transported to, or maintained in, a location within the Golgi apparatus.
protein localization to Golgi membrane A process in which a protein is transported to, or maintained in, a location within a Golgi membrane.
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
Q5JT25 RAB41 Ras-related protein Rab-41 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
P61294 Rab6b Ras-related protein Rab-6B Mus musculus (Mouse) PR
P35279 Rab6a Ras-related protein Rab-6A 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
MSTGGDFGNP LRKFKLVFLG EQSVGKTSLI TRFMYDSFDN TYQATIGIDF LSKTMYLEDR
70 80 90 100 110 120
TVRLQLWDTA GQERFRSLIP SYIRDSTVAV VVYDITNVNS FQQTTKWIDD VRTERGSDVI
130 140 150 160 170 180
IMLVGNKTDL ADKRQVSIEE GERKAKELNV MFIETSAKAG YNVKQLFRRV AAALPGMEST
190 200
QDRSREDMID IKLEKPQEQP VSEGGCSC