AP-1 complex subunit gamma-1 - Homo sapiens

AP-1 complex subunit gamma-1 (Homo sapiens)

FASTA TEXT XML

Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	AP-1 complex subunit gamma-1
Accession Code	O43747
Gene	AP1G1
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 822)
MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFT DKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALC AVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGI SDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNN DKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADC ASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCI GEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQ QRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPV IPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFT FERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTY NHKGSAMQDLAEVNNFPPQSWQ

Structure Viewer (PDB: 1IU1)

Subcellular Location

Description
Golgi apparatus {Experimental EvidencePubMed:12773381}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {Experimental EvidencePubMed:12773381}; Peripheral membrane protein {Experimental EvidencePubMed:12773381}; Cytoplasmic side {Experimental EvidencePubMed: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). {Experimental EvidencePubMed:12773381, ECO:0000269\|PubMed:15758025}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Peripheral	UniProt	Experimental Evidence {ECO:0000269\|PubMed:12773381}
Assigned Ontology terms

Cellular Component	AP-1 Adaptor Complex (GO:0030121) Clathrin-Coated Vesicle (GO:0030136) Clathrin-Coated Vesicle Membrane (GO:0030665) Cytoplasm (GO:0005737) Cytoplasmic Vesicle Membrane (GO:0030659) Cytosol (GO:0005829) Early Endosome (GO:0005769) Golgi Apparatus (GO:0005794) Golgi Membrane (GO:0000139) Intracellular Membrane-Bounded Organelle (GO:0043231) Lysosomal Membrane (GO:0005765) Membrane (GO:0016020) Perinuclear Region Of Cytoplasm (GO:0048471) Recycling Endosome (GO:0055037) Trans-Golgi Network Membrane (GO:0032588)

Biology & Function

Description
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). {Experimental EvidencePubMed:15758025, Experimental EvidencePubMed:34102099}.
Assigned Ontology terms

Biological Process	Basolateral Protein Secretion (GO:0110010) Endosome To Melanosome Transport (GO:0035646) Golgi To Lysosome Transport (GO:0090160) Golgi To Vacuole Transport (GO:0006896) Intracellular Protein Transport (GO:0006886) Melanosome Assembly (GO:1903232) Melanosome Organization (GO:0032438) Platelet Dense Granule Organization (GO:0060155) Positive Regulation Of Natural Killer Cell Degranulation (GO:0043323) Positive Regulation Of Natural Killer Cell Mediated Cytotoxicity (GO:0045954) Receptor-Mediated Endocytosis (GO:0006898) Vesicle-Mediated Transport (GO:0016192)
Molecular Function	Cargo Adaptor Activity (GO:0140312) Clathrin Adaptor Activity (GO:0035615) GTP-Dependent Protein Binding (GO:0030742) Kinesin Binding (GO:0019894) Small GTPase Binding (GO:0031267)

Disease associations

Description
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. {Experimental EvidencePubMed: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. {Experimental EvidencePubMed:34102099}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	603533 619467 619548
DisGeNET	164

Protein-Protein Interactions

Interactions with other proteins (43 interactors)

Partner (UniProt)		IntAct	Confidence score
O18973	Rab5 GDP/GTP exchange factor (Rabex-5)	EBI-447608	0.37
Q15276	Rab GTPase-binding effector protein 1 (Rabaptin-4) (Rabaptin-5) (Rabaptin-5alpha) (Renal carcinoma antigen NY-REN-17)	EBI-448309	0.51
Q9DB50	AP-1 complex subunit sigma-2 (Adaptor protein complex AP-1 subunit sigma-1B) (Adaptor-related protein complex 1 subunit sigma-1B) (Clathrin assembly protein complex 1 sigma-1B small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1B subunit) (Sigma 1B subunit of AP-1 clathrin) (Sigma-adaptin 1B) (Sigma1B-adaptin)	EBI-516318	0.37
P61967	AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adaptin sigma-1A subunit) (HA1 19 kDa subunit) (Sigma 1a subunit of AP-1 clathrin) (Sigma-adaptin 1A) (Sigma1A-adaptin)	EBI-516322	0.37
P61106	Ras-related protein Rab-14	EBI-6962654	0.27
Q6VY07	Phosphofurin acidic cluster sorting protein 1 (PACS-1)	EBI-6971116	0.44
Q96G01	Protein bicaudal D homolog 1 (Bic-D 1)	EBI-7141935	0.27
Q9JIF3	Solute carrier family 2, facilitated glucose transporter member 8 (Glucose transporter type 8) (GLUT-8) (Glucose transporter type X1)	EBI-7048115	0.40
A0A6L7H5N1	Conserved repeat domain protein	EBI-2811290	0.00
A0A6L8P1I7	Conserved domain protein	EBI-2813482	0.00
Q81MS2	Arginine decarboxylase (EC 4.1.1.19)	EBI-2817920	0.00
Q81LQ9	ComE operon protein 1	EBI-2817913	0.00
A0A2C3GDM9	HTH hxlR-type domain-containing protein	EBI-2838167	0.00
A0A2P0HDJ9	Nitrate reductase beta chain (Respiratory nitrate reductase, beta subunit (EC 1.7.99.4))	EBI-2838153	0.00
A0A6L7HG24	ABC transporter, ATP-binding protein	EBI-2838146	0.00
Q81S14	5-methylthioadenosine/S-adenosylhomocysteine deaminase (MTA/SAH deaminase) (EC 3.5.4.28) (EC 3.5.4.31)	EBI-2838160	0.00
A0A2U2GVV5	Putative exported protein	EBI-2848665	0.00
A0A380SBC9	DUF1861 family protein	EBI-2875986	0.00
Q77M19	V protein	EBI-6268389	0.35
Q10567	AP-1 complex subunit beta-1 (Adaptor protein complex AP-1 subunit beta-1) (Adaptor-related protein complex 1 subunit beta-1) (Beta-1-adaptin) (Beta-adaptin 1) (Clathrin assembly protein complex 1 beta large chain) (Golgi adaptor HA1/AP1 adaptin beta subunit)	EBI-6868018	0.27
P56377	AP-1 complex subunit sigma-2 (Adaptor protein complex AP-1 subunit sigma-1B) (Adaptor-related protein complex 1 subunit sigma-1B) (Clathrin assembly protein complex 1 sigma-1B small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1B subunit) (Sigma 1B subunit of AP-1 clathrin) (Sigma-adaptin 1B) (Sigma1B-adaptin)	EBI-10185817	0.67
Q96S82	Ubiquitin-like protein 7 (Bone marrow stromal cell ubiquitin-like protein) (BMSC-UbP) (Ubiquitin-like protein SB132)	EBI-10185831	0.72
Q9NYZ3	G2 and S phase-expressed protein 1 (GTSE-1) (Protein B99 homolog)	EBI-11081743	0.35
Q9NYX4	Neuron-specific vesicular protein calcyon	EBI-10918009	0.40
Q10589	Bone marrow stromal antigen 2 (BST-2) (HM1.24 antigen) (Tetherin) (CD antigen CD317)	EBI-10960854	0.27
P19554	Protein Vpu (U ORF protein) (Viral protein U)	EBI-10960854	0.27
Q6P5F9	Exportin-1 (Exp1) (Chromosome region maintenance 1 protein homolog)	EBI-11603310	0.35
Q6PD74	Alpha- and gamma-adaptin-binding protein p34	EBI-24507122	0.67
Q6IQ23	Pleckstrin homology domain-containing family A member 7 (PH domain-containing family A member 7)	EBI-16398399	0.35
Q96CW1	AP-2 complex subunit mu (AP-2 mu chain) (Adaptin-mu2) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-associated protein AP50) (HA2 50 kDa subunit) (Plasma membrane adaptor AP-2 50 kDa protein)	EBI-21520588	0.35
A0JP26	POTE ankyrin domain family member B3	EBI-21540656	0.35
O75170	Serine/threonine-protein phosphatase 6 regulatory subunit 2 (SAPS domain family member 2)	EBI-21664775	0.35
Q9Y6Q5	AP-1 complex subunit mu-2 (AP-mu chain family member mu1B) (Adaptor protein complex AP-1 subunit mu-2) (Adaptor-related protein complex 1 subunit mu-2) (Clathrin assembly protein complex 1 mu-2 medium chain 2) (Golgi adaptor HA1/AP1 adaptin mu-2 subunit) (Mu-adaptin 2) (Mu1B-adaptin)	EBI-21760726	0.35
Q01968	Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase) (EC 3.1.3.86)	EBI-16412116	0.35
O43493	Trans-Golgi network integral membrane protein 2 (Trans-Golgi network glycoprotein 46) (TGN38 homolog) (hTGN46) (Trans-Golgi network glycoprotein 48) (hTGN48) (Trans-Golgi network glycoprotein 51) (hTGN51) (Trans-Golgi network protein 2)	EBI-16800265	0.27
P46013	Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67)	EBI-20562326	0.35
P14404	Histone-lysine N-methyltransferase MECOM (EC 2.1.1.367) (Ecotropic virus integration site 1 protein) (EVI-1) (MDS1 and EVI1 complex locus protein) (Myelodysplasia syndrome 1 protein homolog)	EBI-21026252	0.35
P03372	Estrogen receptor (ER) (ER-alpha) (Estradiol receptor) (Nuclear receptor subfamily 3 group A member 1)	EBI-21301141	0.35
P10644	cAMP-dependent protein kinase type I-alpha regulatory subunit (Tissue-specific extinguisher 1) (TSE1)	EBI-25387530	0.35
P20339	Ras-related protein Rab-5A (EC 3.6.5.2)	EBI-25391898	0.35
P0DOF2	Matrix protein (Phosphoprotein M2)	EBI-25603126	0.35
P54253	Ataxin-1 (Spinocerebellar ataxia type 1 protein)	EBI-25978906	0.56
P0DTC5	Membrane protein (M) (E1 glycoprotein) (Matrix glycoprotein) (Membrane glycoprotein)	EBI-27127936	0.27

Cross-References

Database	Links
UNIPROT	O43747 O75709 O75842 Q9UG09 Q9Y3U4
PDB	1IU1
Pfam	PF01602 PF02883
PROSITE	PS50180
OMIM	603533 619467 619548
DisGeNET	164

NucEnvDB

NucEnvDB

A database of Nuclear Envelope Proteins and their Interactions

AP-1 complex subunit gamma-1 (Homo sapiens)

General Information

Protein Information

Structure Viewer (PDB: 1IU1)

Subcellular Location

Description

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with other proteins (43 interactors)

Cross-References

Database

Links

AP-1 complex subunit gamma-1 (Homo sapiens)

General Information

Protein Information

Structure Viewer (PDB: 1IU1)

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with other proteins (43 interactors)

Cross-References

Database

Links

Description

Description