AP1G1_HUMAN
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed). [View more on UniProt]
Interacting region for partners were not defined.
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 15 | Arg | Gln | Usmani-Riazuddinsyndrome,autosomaldominant(USRISD) | - |
| 35 | Arg | Gln | Usmani-Riazuddinsyndrome,autosomaldominant(USRISD) | - |
| 35 | Arg | Trp | Usmani-Riazuddinsyndrome,autosomaldominant(USRISD) | - |
| 243 | Pro | His | Usmani-Riazuddinsyndrome,autosomalrecessive(USRISR) | - |
| 366 | Met | Val | Usmani-Riazuddinsyndrome,autosomalrecessive(USRISR) | - |
| 817 | Pro | Arg | Usmani-Riazuddinsyndrome,autosomaldominant(USRISD) | - |
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in AP1G1_HUMAN |
|---|---|---|---|---|
| GO:0043168 | anion binding | 30.0000 | 4 | no |
| GO:0000166 | nucleotide binding | 25.0000 | 4 | no |
| GO:0017076 | purine nucleotide binding | 25.0000 | 5 | no |
| GO:0032555 | purine ribonucleotide binding | 25.0000 | 4 | no |
| GO:0003723 | RNA binding | 23.3333 | 4 | no |
| GO:0035639 | purine ribonucleoside triphosphate binding | 23.3333 | 4 | no |
| GO:0051020 | GTPase binding | 11.6667 | 4 | yes |
| GO:0035615 | clathrin adaptor activity | 10.0000 | 4 | yes |
| GO:0031267 | small GTPase binding | 8.3333 | 5 | yes |
| GO:0019894 | kinesin binding | 3.3333 | 4 | yes |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in AP1G1_HUMAN |
|---|---|---|---|---|
| GO:0008104 | protein localization | 58.3333 | 4 | yes |
| GO:0071702 | organic substance transport | 56.6667 | 4 | yes |
| GO:0071705 | nitrogen compound transport | 55.0000 | 4 | yes |
| GO:0015031 | protein transport | 48.3333 | 4 | yes |
| GO:0006996 | organelle organization | 43.3333 | 4 | yes |
| GO:0022607 | cellular component assembly | 41.6667 | 4 | yes |
| GO:0048522 | positive regulation of cellular process | 41.6667 | 4 | yes |
| GO:0051049 | regulation of transport | 41.6667 | 4 | yes |
| GO:0006886 | intracellular protein transport | 40.0000 | 4 | yes |
| GO:0051128 | regulation of cellular component organization | 40.0000 | 4 | no |
| GO:0098657 | import into cell | 35.0000 | 4 | yes |
| GO:0060255 | regulation of macromolecule metabolic process | 33.3333 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 33.3333 | 4 | no |
| GO:0060627 | regulation of vesicle-mediated transport | 28.3333 | 4 | yes |
| GO:0080090 | regulation of primary metabolic process | 28.3333 | 4 | no |
| GO:0060341 | regulation of cellular localization | 28.3333 | 4 | no |
| GO:0010646 | regulation of cell communication | 26.6667 | 4 | no |
| GO:0043933 | protein-containing complex organization | 26.6667 | 4 | no |
| GO:0016050 | vesicle organization | 25.0000 | 5 | yes |
| GO:0033043 | regulation of organelle organization | 25.0000 | 5 | no |
| GO:0031323 | regulation of cellular metabolic process | 25.0000 | 4 | no |
| GO:0061024 | membrane organization | 23.3333 | 4 | yes |
| GO:0009889 | regulation of biosynthetic process | 23.3333 | 4 | no |
| GO:0051050 | positive regulation of transport | 21.6667 | 4 | yes |
| GO:0051246 | regulation of protein metabolic process | 21.6667 | 5 | no |
| GO:0051130 | positive regulation of cellular component organization | 21.6667 | 5 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 21.6667 | 5 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 21.6667 | 5 | no |
| GO:0032880 | regulation of protein localization | 21.6667 | 5 | no |
| GO:0007034 | vacuolar transport | 16.6667 | 4 | yes |
| GO:0048584 | positive regulation of response to stimulus | 16.6667 | 4 | yes |
| GO:0051046 | regulation of secretion | 16.6667 | 5 | yes |
| GO:0070925 | organelle assembly | 16.6667 | 5 | yes |
| GO:0006892 | post-Golgi vesicle-mediated transport | 15.0000 | 4 | yes |
| GO:0007041 | lysosomal transport | 15.0000 | 5 | yes |
| GO:0046903 | secretion | 15.0000 | 4 | yes |
| GO:0048488 | synaptic vesicle endocytosis | 15.0000 | 5 | yes |
| GO:0140238 | presynaptic endocytosis | 15.0000 | 4 | yes |
| GO:1903530 | regulation of secretion by cell | 15.0000 | 4 | yes |
| GO:0051047 | positive regulation of secretion | 13.3333 | 5 | yes |
| GO:0080134 | regulation of response to stress | 13.3333 | 4 | yes |
| GO:0002684 | positive regulation of immune system process | 11.6667 | 4 | yes |
| GO:0002831 | regulation of response to biotic stimulus | 11.6667 | 4 | yes |
| GO:0016482 | cytosolic transport | 11.6667 | 4 | yes |
| GO:0017157 | regulation of exocytosis | 11.6667 | 5 | yes |
| GO:0031347 | regulation of defense response | 11.6667 | 5 | yes |
| GO:0032101 | regulation of response to external stimulus | 11.6667 | 4 | yes |
| GO:0033363 | secretory granule organization | 11.6667 | 6 | yes |
| GO:0045088 | regulation of innate immune response | 11.6667 | 5 | yes |
| GO:0050776 | regulation of immune response | 11.6667 | 4 | yes |
| GO:1903532 | positive regulation of secretion by cell | 11.6667 | 5 | yes |
| GO:0002833 | positive regulation of response to biotic stimulus | 10.0000 | 5 | yes |
| GO:0031349 | positive regulation of defense response | 10.0000 | 5 | yes |
| GO:0032103 | positive regulation of response to external stimulus | 10.0000 | 5 | yes |
| GO:0032438 | melanosome organization | 10.0000 | 7 | yes |
| GO:0045089 | positive regulation of innate immune response | 10.0000 | 6 | yes |
| GO:0048753 | pigment granule organization | 10.0000 | 6 | yes |
| GO:0050778 | positive regulation of immune response | 10.0000 | 5 | yes |
| GO:0060155 | platelet dense granule organization | 10.0000 | 7 | yes |
| GO:1903232 | melanosome assembly | 10.0000 | 6 | yes |
| GO:1903305 | regulation of regulated secretory pathway | 10.0000 | 6 | yes |
| GO:0006896 | Golgi to vacuole transport | 8.3333 | 5 | yes |
| GO:0009306 | protein secretion | 8.3333 | 4 | yes |
| GO:0035592 | establishment of protein localization to extracellular region | 8.3333 | 4 | yes |
| GO:0045921 | positive regulation of exocytosis | 8.3333 | 6 | yes |
| GO:0071692 | protein localization to extracellular region | 8.3333 | 5 | yes |
| GO:0002697 | regulation of immune effector process | 6.6667 | 4 | yes |
| GO:0006900 | vesicle budding from membrane | 6.6667 | 5 | yes |
| GO:0035646 | endosome to melanosome transport | 6.6667 | 5 | yes |
| GO:0043485 | endosome to pigment granule transport | 6.6667 | 4 | yes |
| GO:0110010 | basolateral protein secretion | 6.6667 | 5 | yes |
| GO:1903307 | positive regulation of regulated secretory pathway | 6.6667 | 7 | yes |
| GO:0001910 | regulation of leukocyte mediated cytotoxicity | 5.0000 | 5 | yes |
| GO:0001912 | positive regulation of leukocyte mediated cytotoxicity | 5.0000 | 6 | yes |
| GO:0002699 | positive regulation of immune effector process | 5.0000 | 5 | yes |
| GO:0002703 | regulation of leukocyte mediated immunity | 5.0000 | 5 | yes |
| GO:0002705 | positive regulation of leukocyte mediated immunity | 5.0000 | 6 | yes |
| GO:0002706 | regulation of lymphocyte mediated immunity | 5.0000 | 6 | yes |
| GO:0002708 | positive regulation of lymphocyte mediated immunity | 5.0000 | 7 | yes |
| GO:0002715 | regulation of natural killer cell mediated immunity | 5.0000 | 6 | yes |
| GO:0002717 | positive regulation of natural killer cell mediated immunity | 5.0000 | 7 | yes |
| GO:0016182 | synaptic vesicle budding from endosome | 5.0000 | 4 | yes |
| GO:0031341 | regulation of cell killing | 5.0000 | 4 | yes |
| GO:0031343 | positive regulation of cell killing | 5.0000 | 5 | yes |
| GO:0042269 | regulation of natural killer cell mediated cytotoxicity | 5.0000 | 6 | yes |
| GO:0043300 | regulation of leukocyte degranulation | 5.0000 | 5 | yes |
| GO:0043302 | positive regulation of leukocyte degranulation | 5.0000 | 6 | yes |
| GO:0043321 | regulation of natural killer cell degranulation | 5.0000 | 6 | yes |
| GO:0043323 | positive regulation of natural killer cell degranulation | 5.0000 | 7 | yes |
| GO:0045954 | positive regulation of natural killer cell mediated cytotoxicity | 5.0000 | 7 | yes |
| GO:0070142 | synaptic vesicle budding | 5.0000 | 6 | yes |
| GO:0090160 | Golgi to lysosome transport | 5.0000 | 5 | yes |
Disease
No data found.
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| AP1G1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| HLAA_HUMAN | [view interactions] | Low throughput | no | no |
| STING_HUMAN | [view interactions] | Low throughput | no | yes |
| RABE1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AP1S2_HUMAN | [view interactions] | Low throughput | no | no |
| AP1S1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AP1M1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| CALY_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| MPRI_HUMAN | [view interactions] | Low throughput | no | yes |
| PACS1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| EPN4_HUMAN | [view interactions] | Low throughput | no | yes |
| SL2A8_HUMAN | [view interactions] | Low throughput | no | yes |
| ARF1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AP1S3_HUMAN | [view interactions] | Low throughput | no | yes |
| AP1B1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| RAB14_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| BICD1_HUMAN | [view interactions] | Low throughput | no | yes |
| SYPH_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| SYT1_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| BST2_HUMAN | [view interactions] | Low throughput | no | yes |
| CLH1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| SYNRG_HUMAN | [view interactions] | Low throughput | no | yes |
| BAALC_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| NECP1_HUMAN | [view interactions] | Low throughput | no | no |
| NECP2_HUMAN | [view interactions] | Low throughput | no | yes |
| AP1M2_HUMAN | [view interactions] | Low throughput | no | no |
| AP2M1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AP2S1_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| JUN_HUMAN | [view interactions] | Low throughput | no | yes |
| CORO7_HUMAN | [view interactions] | Low throughput | no | no |
| GGA1_HUMAN | [view interactions] | Low throughput | no | yes |
| AMPH_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| EPS15_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| ARF6_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AFTIN_HUMAN | [view interactions] | Low throughput | no | yes |
| HTR5B_HUMAN | [view interactions] | Low throughput | no | yes |
| KI13A_HUMAN | [view interactions] | Low throughput | no | yes |
| ARFRP_HUMAN | [view interactions] | Low throughput | no | yes |
| PSN2_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| SNX9_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| GGA2_HUMAN | [view interactions] | Low throughput | no | yes |
| GGA3_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| AGR2_HUMAN | [view interactions] | High throughput | no | no |
| TERA_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SMAP2_HUMAN | [view interactions] | High throughput | no | yes |
| LTOR1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| IFM1_HUMAN | [view interactions] | High throughput | no | no |
| ATG9A_HUMAN | [view interactions] | High throughput | no | yes |
| CCNF_HUMAN | [view interactions] | High throughput | no | no |
| RFA1_HUMAN | [view interactions] | High throughput | no | yes |
| RFA2_HUMAN | [view interactions] | High throughput | no | yes |
| RFA3_HUMAN | [view interactions] | High throughput | no | yes |
| GTSE1_HUMAN | [view interactions] | High throughput | no | no |
| OCRL_HUMAN | [view interactions] | High throughput | no | yes |
| KI67_HUMAN | [view interactions] | High throughput | no | no |
| MECOM_HUMAN | [view interactions] | High throughput | no | yes |
| KAP0_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RAB5A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| NPC1_HUMAN | [view interactions] | High throughput | no | yes |
| VAMP4_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| XPO1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ESR1_HUMAN | [view interactions] | High throughput | no | no |
| AP3D1_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| LAMP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PI4KB_HUMAN | [view interactions] | High throughput | no | yes |
| VTI1B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CATD_HUMAN | [view interactions] | High throughput | no | yes |
| TGON2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CFTR_HUMAN | [view interactions] | High throughput | no | no |
| Z512B_HUMAN | [view interactions] | High throughput | no | yes |
| UBL7_HUMAN | [view interactions] | High throughput | no | yes |
| AAGAB_HUMAN | [view interactions] | High throughput | no | yes |
| MAP1A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EGFR_HUMAN | [view interactions] | High throughput | no | no |
| ASB10_HUMAN | [view interactions] | High throughput | no | no |
| GASP2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PASK_HUMAN | [view interactions] | High throughput | no | yes |
| EED_HUMAN | [view interactions] | High throughput | no | yes |
| UNK_HUMAN | [view interactions] | High throughput | no | yes |
| NTRK1_HUMAN | [view interactions] | High throughput | no | yes |
| ABCG1_HUMAN | [view interactions] | High throughput | no | yes |
| SENP3_HUMAN | [view interactions] | High throughput | no | yes |
| ZN746_HUMAN | [view interactions] | High throughput | no | no |
| POTB3_HUMAN | [view interactions] | High throughput | no | no |
| PP6R2_HUMAN | [view interactions] | High throughput | no | no |
| FBX32_HUMAN | [view interactions] | High throughput | no | no |
| U5S1_HUMAN | [view interactions] | High throughput | no | yes |
| TF65_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ESR2_HUMAN | [view interactions] | High throughput | no | no |
| MYC_HUMAN | [view interactions] | High throughput | no | yes |
| STAU1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| LMBRL_HUMAN | [view interactions] | High throughput | no | no |
| TIF1B_HUMAN | [view interactions] | High throughput | no | yes |
| PKHA4_HUMAN | [view interactions] | High throughput | no | yes |
| CFAD_HUMAN | [view interactions] | High throughput | no | no |
| FNDC5_HUMAN | [view interactions] | High throughput | no | no |
| CUL4A_HUMAN | [view interactions] | High throughput | no | no |
| P53_HUMAN | [view interactions] | High throughput | no | no |
| SMAD4_HUMAN | [view interactions] | High throughput | no | yes |
| AP2B1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| COMT_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TNR1B_HUMAN | [view interactions] | High throughput | no | no |
| POTEG_HUMAN | [view interactions] | High throughput | no | no |
| SPT33_HUMAN | [view interactions] | High throughput | no | no |
| EP300_HUMAN | [view interactions] | High throughput | no | yes |
| FSCN1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FBXW7_HUMAN | [view interactions] | High throughput | no | yes |
| AKT2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RHG18_HUMAN | [view interactions] | High throughput | no | yes |
| CLCA_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| CLCB_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ROA2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TLS1_HUMAN | [view interactions] | High throughput | no | yes |
| PRKN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ATG5_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| HSP7C_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| HS71B_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| HS71A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PARPT_HUMAN | [view interactions] | High throughput | no | no |
| TRI67_HUMAN | [view interactions] | High throughput | no | no |
| STIP1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| RHG24_HUMAN | [view interactions] | High throughput | no | yes |
| DVL2_HUMAN | [view interactions] | High throughput | no | yes |
| SPOP_HUMAN | [view interactions] | High throughput | no | no |
| RN149_HUMAN | [view interactions] | High throughput | no | no |
| PML_HUMAN | [view interactions] | High throughput | no | yes |
| CCD91_HUMAN | [view interactions] | High throughput | no | yes |
| NPM3_HUMAN | [view interactions] | High throughput | no | yes |
| OSB11_HUMAN | [view interactions] | High throughput | no | no |
| PRRC1_HUMAN | [view interactions] | High throughput | no | yes |
| CIP4_HUMAN | [view interactions] | High throughput | no | no |
| DJC13_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FLNB_HUMAN | [view interactions] | High throughput | no | no |
| GUAD_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| LIS1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| AAKB1_HUMAN | [view interactions] | High throughput | no | yes |
| UBA1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DCPS_HUMAN | [view interactions] | High throughput | no | yes |
| AT8A1_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| INP4B_HUMAN | [view interactions] | High throughput | no | no |
| AP1G2_HUMAN | [view interactions] | High throughput | no | yes |
| PYGB_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| CREB1_HUMAN | [view interactions] | High throughput | no | yes |
| CAP2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| MSH2_HUMAN | [view interactions] | High throughput | no | yes |
| EFTU_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SYAC_HUMAN | [view interactions] | High throughput | no | yes |
| RAB1A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| FKBP4_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| GLGB_HUMAN | [view interactions] | High throughput | no | yes |
| RHG01_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| TADBP_HUMAN | [view interactions] | High throughput | no | yes |
| AIMP2_HUMAN | [view interactions] | High throughput | no | yes |
| SNW1_HUMAN | [view interactions] | High throughput | no | yes |
| NHLC2_HUMAN | [view interactions] | High throughput | no | yes |
| GT251_HUMAN | [view interactions] | High throughput | no | no |
| GOLP3_HUMAN | [view interactions] | High throughput | no | no |
| TRM6_HUMAN | [view interactions] | High throughput | no | yes |