ID  O43747;
PN  AP-1 complex subunit gamma-1;
GN  AP1G1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Golgi apparatus {ECO:0000269|PubMed:12773381}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000269|PubMed:12773381}; Peripheral membrane protein {ECO:0000269|PubMed:12773381}; Cytoplasmic side {ECO:0000269|PubMed:12773381}. Cytoplasm {ECO:0000269|PubMed:15758025}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15758025, ECO:0000269|PubMed:34102099}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:15758025}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:34102099}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (PubMed:12773381). Co-localizes with AFTPH/aftiphilin in the cytoplasm (PubMed:15758025). {ECO:0000269|PubMed:12773381, ECO:0000269|PubMed:15758025}.
DR  UNIPROT: O43747;
DR  UNIPROT: O75709;
DR  UNIPROT: O75842;
DR  UNIPROT: Q9UG09;
DR  UNIPROT: Q9Y3U4;
DR  PDB: 1IU1;
DR  Pfam: PF01602;
DR  Pfam: PF02883;
DR  PROSITE: PS50180;
DR  OMIM: 603533;
DR  OMIM: 619467;
DR  OMIM: 619548;
DR  DisGeNET: 164;
DE  Function: 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:15758025). {ECO:0000269|PubMed:15758025, ECO:0000269|PubMed:34102099}.
DE  Disease: Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467]: A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry. Usmani-Riazuddin syndrome, autosomal recessive (USRISR) [MIM:619548]: A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity. {ECO:0000269|PubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O18973; IntAct: EBI-447608; Score: 0.37
DE  Interaction: Q15276; IntAct: EBI-448309; Score: 0.51
DE  Interaction: Q9DB50; IntAct: EBI-516318; Score: 0.37
DE  Interaction: P61967; IntAct: EBI-516322; Score: 0.37
DE  Interaction: P61106; IntAct: EBI-6962654; Score: 0.27
DE  Interaction: Q6VY07; IntAct: EBI-6971116; Score: 0.44
DE  Interaction: Q96G01; IntAct: EBI-7141935; Score: 0.27
DE  Interaction: Q9JIF3; IntAct: EBI-7048115; Score: 0.40
DE  Interaction: A0A6L7H5N1; IntAct: EBI-2811290; Score: 0.00
DE  Interaction: A0A6L8P1I7; IntAct: EBI-2813482; Score: 0.00
DE  Interaction: Q81MS2; IntAct: EBI-2817920; Score: 0.00
DE  Interaction: Q81LQ9; IntAct: EBI-2817913; Score: 0.00
DE  Interaction: A0A2C3GDM9; IntAct: EBI-2838167; Score: 0.00
DE  Interaction: A0A2P0HDJ9; IntAct: EBI-2838153; Score: 0.00
DE  Interaction: A0A6L7HG24; IntAct: EBI-2838146; Score: 0.00
DE  Interaction: Q81S14; IntAct: EBI-2838160; Score: 0.00
DE  Interaction: A0A2U2GVV5; IntAct: EBI-2848665; Score: 0.00
DE  Interaction: A0A380SBC9; IntAct: EBI-2875986; Score: 0.00
DE  Interaction: Q77M19; IntAct: EBI-6268389; Score: 0.35
DE  Interaction: Q10567; IntAct: EBI-6868018; Score: 0.27
DE  Interaction: P56377; IntAct: EBI-10185817; Score: 0.67
DE  Interaction: Q96S82; IntAct: EBI-10185831; Score: 0.72
DE  Interaction: Q9NYZ3; IntAct: EBI-11081743; Score: 0.35
DE  Interaction: Q9NYX4; IntAct: EBI-10918009; Score: 0.40
DE  Interaction: Q10589; IntAct: EBI-10960854; Score: 0.27
DE  Interaction: P19554; IntAct: EBI-10960854; Score: 0.27
DE  Interaction: Q6P5F9; IntAct: EBI-11603310; Score: 0.35
DE  Interaction: Q6PD74; IntAct: EBI-24507122; Score: 0.67
DE  Interaction: Q6IQ23; IntAct: EBI-16398399; Score: 0.35
DE  Interaction: Q96CW1; IntAct: EBI-21520588; Score: 0.35
DE  Interaction: A0JP26; IntAct: EBI-21540656; Score: 0.35
DE  Interaction: O75170; IntAct: EBI-21664775; Score: 0.35
DE  Interaction: Q9Y6Q5; IntAct: EBI-21760726; Score: 0.35
DE  Interaction: Q01968; IntAct: EBI-16412116; Score: 0.35
DE  Interaction: O43493; IntAct: EBI-16800265; Score: 0.27
DE  Interaction: P46013; IntAct: EBI-20562326; Score: 0.35
DE  Interaction: P14404; IntAct: EBI-21026252; Score: 0.35
DE  Interaction: P03372; IntAct: EBI-21301141; Score: 0.35
DE  Interaction: P10644; IntAct: EBI-25387530; Score: 0.35
DE  Interaction: P20339; IntAct: EBI-25391898; Score: 0.35
DE  Interaction: P0DOF2; IntAct: EBI-25603126; Score: 0.35
DE  Interaction: P54253; IntAct: EBI-25978906; Score: 0.56
DE  Interaction: P0DTC5; IntAct: EBI-27127936; Score: 0.27
GO  GO:0030121;
GO  GO:0030136;
GO  GO:0030665;
GO  GO:0005737;
GO  GO:0030659;
GO  GO:0005829;
GO  GO:0005769;
GO  GO:0005794;
GO  GO:0000139;
GO  GO:0043231;
GO  GO:0005765;
GO  GO:0016020;
GO  GO:0048471;
GO  GO:0055037;
GO  GO:0032588;
GO  GO:0140312;
GO  GO:0035615;
GO  GO:0030742;
GO  GO:0019894;
GO  GO:0031267;
GO  GO:0110010;
GO  GO:0035646;
GO  GO:0090160;
GO  GO:0006896;
GO  GO:0006886;
GO  GO:1903232;
GO  GO:0032438;
GO  GO:0060155;
GO  GO:0043323;
GO  GO:0045954;
GO  GO:0006898;
GO  GO:0016192;
TP  Membrane Topology: Peripheral; Source: UniProt - Experimental Evidence {ECO:0000269|PubMed:12773381};
SQ  MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFT
SQ  DKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALC
SQ  AVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGI
SQ  SDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNN
SQ  DKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADC
SQ  ASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCI
SQ  GEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQ
SQ  QRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPV
SQ  IPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFT
SQ  FERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTY
SQ  NHKGSAMQDLAEVNNFPPQSWQ
//