VPS53_HUMAN
Evidence for PS localization
Functions
Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed, PubMed). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed). [View more on UniProt]
Protein features
Binary interactions with known binding regions
Interacting region for partners were not defined.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 695 | Gln | Arg | Pontocerebellarhypoplasia2E(PCH2E) | - |
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in VPS53_HUMAN |
|---|---|---|---|---|
| GO:0017076 | purine nucleotide binding | 32.4324 | 4 | no |
| GO:0032555 | purine ribonucleotide binding | 32.4324 | 4 | no |
| GO:0035639 | purine ribonucleoside triphosphate binding | 29.7297 | 4 | no |
| GO:0016462 | pyrophosphatase activity | 27.0270 | 5 | no |
| GO:0016818 | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | 27.0270 | 4 | no |
| GO:0017111 | ribonucleoside triphosphate phosphatase activity | 27.0270 | 6 | no |
| GO:0003924 | GTPase activity | 24.3243 | 7 | no |
| GO:0005525 | GTP binding | 24.3243 | 5 | no |
| GO:0019001 | guanyl nucleotide binding | 24.3243 | 5 | no |
| GO:0032561 | guanyl ribonucleotide binding | 24.3243 | 5 | no |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in VPS53_HUMAN |
|---|---|---|---|---|
| GO:0008104 | protein localization | 81.0811 | 4 | yes |
| GO:0071702 | organic substance transport | 75.6757 | 4 | yes |
| GO:0071705 | nitrogen compound transport | 75.6757 | 4 | yes |
| GO:0015031 | protein transport | 70.2703 | 4 | yes |
| GO:0016192 | vesicle-mediated transport | 62.1622 | 4 | yes |
| GO:0006886 | intracellular protein transport | 40.5405 | 4 | no |
| GO:0048193 | Golgi vesicle transport | 40.5405 | 5 | no |
| GO:0048522 | positive regulation of cellular process | 40.5405 | 4 | no |
| GO:0031323 | regulation of cellular metabolic process | 35.1351 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 35.1351 | 4 | no |
| GO:0006996 | organelle organization | 35.1351 | 4 | no |
| GO:0051128 | regulation of cellular component organization | 32.4324 | 4 | no |
| GO:0080090 | regulation of primary metabolic process | 32.4324 | 4 | no |
| GO:0051049 | regulation of transport | 29.7297 | 4 | no |
| GO:0009893 | positive regulation of metabolic process | 29.7297 | 4 | no |
| GO:0051171 | regulation of nitrogen compound metabolic process | 29.7297 | 4 | no |
| GO:0051246 | regulation of protein metabolic process | 29.7297 | 5 | no |
| GO:0016197 | endosomal transport | 27.0270 | 4 | yes |
| GO:0098876 | vesicle-mediated transport to the plasma membrane | 27.0270 | 4 | yes |
| GO:0031325 | positive regulation of cellular metabolic process | 24.3243 | 5 | no |
| GO:0031399 | regulation of protein modification process | 24.3243 | 6 | no |
| GO:0010604 | positive regulation of macromolecule metabolic process | 24.3243 | 5 | no |
| GO:0009966 | regulation of signal transduction | 21.6216 | 4 | no |
| GO:0010646 | regulation of cell communication | 21.6216 | 4 | no |
| GO:0019220 | regulation of phosphate metabolic process | 21.6216 | 6 | no |
| GO:0048523 | negative regulation of cellular process | 21.6216 | 4 | no |
| GO:0051174 | regulation of phosphorus metabolic process | 21.6216 | 5 | no |
| GO:0010468 | regulation of gene expression | 21.6216 | 5 | no |
| GO:0022607 | cellular component assembly | 21.6216 | 4 | no |
| GO:0051173 | positive regulation of nitrogen compound metabolic process | 21.6216 | 5 | no |
| GO:0051247 | positive regulation of protein metabolic process | 21.6216 | 6 | no |
| GO:0032456 | endocytic recycling | 16.2162 | 5 | yes |
| GO:0016482 | cytosolic transport | 13.5135 | 4 | yes |
| GO:0042147 | retrograde transport, endosome to Golgi | 13.5135 | 5 | yes |
| GO:0007034 | vacuolar transport | 10.8108 | 4 | yes |
| GO:0007041 | lysosomal transport | 10.8108 | 5 | yes |
Disease
| Term | Name | % | Distance from top the of the tree | Annotated in VPS53_HUMAN |
|---|---|---|---|---|
| DOID:0060264 | pontocerebellar hypoplasia | 5.4054 | 5 | yes |
| DOID:0060271 | pontocerebellar hypoplasia type 2E | 5.4054 | 7 | yes |
| DOID:0112328 | pontocerebellar hypoplasia type 2 | 5.4054 | 6 | yes |
| DOID:1289 | neurodegenerative disease | 5.4054 | 4 | yes |
| DOID:331 | central nervous system disease | 5.4054 | 3 | yes |
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| VPS51_HUMAN | [view interactions] | Low throughput | no | yes |
| VPS52_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| EXOC2_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| VPS53_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| STX6_HUMAN | [view interactions] | Low throughput | no | yes |
| VAMP4_HUMAN | [view interactions] | Low throughput | no | yes |
| VP33B_HUMAN | [view interactions] | Low throughput | no | yes |
| VPS54_HUMAN | [view interactions] | Low throughput | no | no |
| VPS50_HUMAN | [view interactions] | Low throughput | no | yes |
| EXOC6_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SYCE3_HUMAN | [view interactions] | High throughput | no | no |
| SNP29_HUMAN | [view interactions] | High throughput | no | yes |
| PRAF2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EIPR1_HUMAN | [view interactions] | High throughput | no | yes |
| KI67_HUMAN | [view interactions] | High throughput | no | no |
| IMP2L_HUMAN | [view interactions] | High throughput | no | yes |
| STA5B_HUMAN | [view interactions] | High throughput | no | yes |
| KAP2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| BMAL1_HUMAN | [view interactions] | High throughput | no | yes |
| PSMD9_HUMAN | [view interactions] | High throughput | no | yes |
| CLOCK_HUMAN | [view interactions] | High throughput | no | yes |
| YETS4_HUMAN | [view interactions] | High throughput | no | no |
| TFPT_HUMAN | [view interactions] | High throughput | no | yes |
| RABE1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| GRAP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CCD93_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MS18B_HUMAN | [view interactions] | High throughput | no | no |
| RBG1L_HUMAN | [view interactions] | High throughput | no | yes |
| KDM1A_HUMAN | [view interactions] | High throughput | no | yes |
| HM20A_HUMAN | [view interactions] | High throughput | no | yes |
| TUFT1_HUMAN | [view interactions] | High throughput | no | no |
| THA11_HUMAN | [view interactions] | High throughput | no | yes |
| CCHCR_HUMAN | [view interactions] | High throughput | no | no |
| PHLB3_HUMAN | [view interactions] | High throughput | no | yes |
| GIT2_HUMAN | [view interactions] | High throughput | no | yes |
| MAX_HUMAN | [view interactions] | High throughput | no | yes |
| CAVN1_HUMAN | [view interactions] | High throughput | no | no |
| PKN3_HUMAN | [view interactions] | High throughput | no | yes |
| HAUS6_HUMAN | [view interactions] | High throughput | no | yes |
| DZIP3_HUMAN | [view interactions] | High throughput | no | yes |
| GOGA5_HUMAN | [view interactions] | High throughput | no | yes |
| PF21A_HUMAN | [view interactions] | High throughput | no | yes |
| RPR1A_HUMAN | [view interactions] | High throughput | no | yes |
| NUF2_HUMAN | [view interactions] | High throughput | no | no |
| NCK5L_HUMAN | [view interactions] | High throughput | no | yes |
| RABX5_HUMAN | [view interactions] | High throughput | no | no |
| RCOR1_HUMAN | [view interactions] | High throughput | no | yes |
| TERA_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EED_HUMAN | [view interactions] | High throughput | no | yes |
| BASI_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| DTBP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CCD40_HUMAN | [view interactions] | High throughput | no | no |
| EXOC1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TRI25_HUMAN | [view interactions] | High throughput | no | yes |
| ZUP1_HUMAN | [view interactions] | High throughput | no | yes |
| VIR_HUMAN | [view interactions] | High throughput | no | yes |
| UN93B_HUMAN | [view interactions] | High throughput | no | yes |
| LMBRL_HUMAN | [view interactions] | High throughput | no | no |
| BRD7_HUMAN | [view interactions] | High throughput | no | yes |
| PKHA4_HUMAN | [view interactions] | High throughput | no | yes |
| TRI66_HUMAN | [view interactions] | High throughput | no | yes |
| SMAD4_HUMAN | [view interactions] | High throughput | no | yes |
| TXND2_HUMAN | [view interactions] | High throughput | no | no |
| INSY1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| BL1S6_HUMAN | [view interactions] | High throughput | no | yes |
| KRT37_HUMAN | [view interactions] | High throughput | no | no |
| PSF2_HUMAN | [view interactions] | High throughput | no | no |
| ENTD1_HUMAN | [view interactions] | High throughput | no | no |
| CML1_HUMAN | [view interactions] | High throughput | no | yes |
| S10A2_HUMAN | [view interactions] | High throughput | no | no |
| EFNA4_HUMAN | [view interactions] | High throughput | no | no |
| NUP62_HUMAN | [view interactions] | High throughput | no | yes |
| GPR17_HUMAN | [view interactions] | High throughput | no | no |
| GP182_HUMAN | [view interactions] | High throughput | no | no |
| KRT38_HUMAN | [view interactions] | High throughput | no | no |
| TMEM9_HUMAN | [view interactions] | High throughput | no | no |
| TFR1_HUMAN | [view interactions] | High throughput | no | yes |
| ARMD3_HUMAN | [view interactions] | High throughput | no | yes |
| PTAR1_HUMAN | [view interactions] | High throughput | no | yes |
| RAB1A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| S23IP_HUMAN | [view interactions] | High throughput | no | yes |
| CHRC1_HUMAN | [view interactions] | High throughput | no | no |
| GNT2A_HUMAN | [view interactions] | High throughput | no | yes |
| PTEN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ARFG2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DCAF7_HUMAN | [view interactions] | High throughput | no | yes |
| MA2A1_HUMAN | [view interactions] | High throughput | no | no |
| UBC12_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TSC1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| NPRL2_HUMAN | [view interactions] | High throughput | no | yes |
| MTF2_HUMAN | [view interactions] | High throughput | no | no |
| TPC13_HUMAN | [view interactions] | High throughput | no | yes |
| NCOR1_HUMAN | [view interactions] | High throughput | no | yes |
| DEPD5_HUMAN | [view interactions] | High throughput | no | yes |
| RAB5C_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CUL4A_HUMAN | [view interactions] | High throughput | no | no |
| TSC2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ACATN_HUMAN | [view interactions] | High throughput | no | yes |
| MPRI_HUMAN | [view interactions] | High throughput | no | yes |
| HDAC8_HUMAN | [view interactions] | High throughput | no | yes |
| UB2J1_HUMAN | [view interactions] | High throughput | no | yes |
| ARL5A_HUMAN | [view interactions] | High throughput | no | yes |
| TBL1R_HUMAN | [view interactions] | High throughput | no | yes |
| IF2B1_HUMAN | [view interactions] | High throughput | no | no |
| VPS45_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MA1B1_HUMAN | [view interactions] | High throughput | no | yes |
| FUT8_HUMAN | [view interactions] | High throughput | no | yes |
| CTBP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RAB1B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SC31A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RAB2A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TPPC5_HUMAN | [view interactions] | High throughput | no | yes |
| NPRL3_HUMAN | [view interactions] | High throughput | no | yes |
| TPC2A_HUMAN | [view interactions] | High throughput | no | yes |
| TPC2L_HUMAN | [view interactions] | High throughput | no | yes |
| SC24C_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FITM2_HUMAN | [view interactions] | High throughput | no | no |
| RASK_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| THOC2_HUMAN | [view interactions] | High throughput | no | yes |
| THOC1_HUMAN | [view interactions] | High throughput | no | yes |
| UBP7_HUMAN | [view interactions] | High throughput | no | yes |
| TXND9_HUMAN | [view interactions] | High throughput | no | yes |
| RAB6B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EI2BE_HUMAN | [view interactions] | High throughput | no | yes |
| IRF3_HUMAN | [view interactions] | High throughput | no | yes |
| TSG10_HUMAN | [view interactions] | High throughput | no | no |
| RCAS1_HUMAN | [view interactions] | High throughput | no | yes |
| FLOT1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| K2C8_HUMAN | [view interactions] | High throughput | no | no |
| LAMP2_HUMAN | [view interactions] | High throughput | no | yes |
| LAMP3_HUMAN | [view interactions] | High throughput | no | no |
| LTOR1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RPB3_HUMAN | [view interactions] | High throughput | no | yes |
| RB11A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RAB4A_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| RAB9A_HUMAN | [view interactions] | High throughput | no | yes |
| STX7_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CE170_HUMAN | [view interactions] | High throughput | no | yes |
| PSMD7_HUMAN | [view interactions] | High throughput | no | yes |
| COG1_HUMAN | [view interactions] | Computational | no | yes |
| COG6_HUMAN | [view interactions] | Computational | no | yes |
| COG8_HUMAN | [view interactions] | Computational | no | no |
| RAB6C_HUMAN | [view interactions] | Computational | no | no |
| RGP1_HUMAN | [view interactions] | Computational | no | yes |
| RAB6A_HUMAN | [view entry] [view interactions] | Computational | yes | yes |
| RAB43_HUMAN | [view interactions] | Computational | no | yes |
| COG2_HUMAN | [view interactions] | Computational | no | no |
| COG5_HUMAN | [view interactions] | Computational | no | yes |
| VTI1A_HUMAN | [view interactions] | Computational | no | yes |
| STX10_HUMAN | [view interactions] | Computational | no | yes |
| STX16_HUMAN | [view interactions] | Computational | no | yes |
| COG7_HUMAN | [view interactions] | Computational | no | yes |
| GOGA1_HUMAN | [view interactions] | Computational | no | yes |
| COG3_HUMAN | [view entry] [view interactions] | Computational | yes | yes |