• Gene id: 160

Gene Summary

• Gene Symbol: AP2A1   Gene   UCSC   Ensembl
• Aliases: ADTAA, AP2-ALPHA, CLAPA1
• Gene name: adaptor related protein complex 2 subunit alpha 1
• Alternate names: AP-2 complex subunit alpha-1, 100 kDa coated vesicle protein A, adapter-related protein complex 2 alpha-1 subunit, adapter-related protein complex 2 subunit alpha-1, adaptin, alpha A, adaptor protein complex AP-2 subunit alpha-1, adaptor related protein complex,
• Gene location: 19q13.33 (49767000: 49807113)     Exons: 25     NC_000019.10
• Gene summary(Entrez): This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sig

Protein Summary

• Protein general information: O95782  
  • Name: AP 2 complex subunit alpha 1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP 2 subunit alpha 1) (Adaptor related protein complex 2 subunit alpha 1) (Alpha adaptin A) (Alpha1 adaptin) (Clathrin assembly protein complex 2 alpha A large chain)
  • Length: 977  
  • Mass: 107546
  • Tissue specificity: Expressed in the brain (at protein level) (PubMed
• Sequence:

  MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFG
  HMEAVNLLSSNKYTEKQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMCLALHCIANVGSREMGEAFAAD
  IPRILVAGDSMDSVKQSAALCLLRLYKASPDLVPMGEWTARVVHLLNDQHMGVVTAAVSLITCLCKKNPDDFKTC
  VSLAVSRLSRIVSSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPEDAAVKGRLVECLETVLNKAQEPPKSKKV
  QHSNAKNAILFETISLIIHYDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIDTVIN
  ALKTERDVSVRQRAADLLYAMCDRSNAKQIVSEMLRYLETADYAIREEIVLKVAILAEKYAVDYSWYVDTILNLI
  RIAGDYVSEEVWYRVLQIVTNRDDVQGYAAKTVFEALQAPACHENMVKVGGYILGEFGNLIAGDPRSSPPVQFSL
  LHSKFHLCSVATRALLLSTYIKFINLFPETKATIQGVLRAGSQLRNADVELQQRAVEYLTLSSVASTDVLATVLE
  EMPPFPERESSILAKLKRKKGPGAGSALDDGRRDPSSNDINGGMEPTPSTVSTPSPSADLLGLRAAPPPAAPPAS
  AGAGNLLVDVFDGPAAQPSLGPTPEEAFLSELEPPAPESPMALLADPAPAADPGPEDIGPPIPEADELLNKFVCK
  NNGVLFENQLLQIGVKSEFRQNLGRMYLFYGNKTSVQFQNFSPTVVHPGDLQTQLAVQTKRVAAQVDGGAQVQQV
  LNIECLRDFLTPPLLSVRFRYGGAPQALTLKLPVTINKFFQPTEMAAQDFFQRWKQLSLPQQEAQKIFKANHPMD
  AEVTKAKLLGFGSALLDNVDPNPENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEPVSRHLCELLAQ
  QF

• Structural information:
  • Interpro: IPR017104  IPR011989  IPR016024  IPR002553  IPR003164   IPR008152  IPR013041  IPR009028  IPR012295  
  • DIP: 33164
  • STRING: ENSP00000351926
• Other Databases: GeneCards:  AP2A1  Malacards:  AP2A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050750	low-density lipoprotein particle receptor binding	IPI	molecular function
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0019901	protein kinase binding	ISS	molecular function
GO:0030122	AP-2 adaptor complex	IBA	cellular component
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0140312	cargo adaptor activity	IBA	molecular function
GO:1900126	negative regulation of hyaluronan biosynthetic process	IDA	biological process
GO:1900126	negative regulation of hyaluronan biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0035615	clathrin adaptor activity	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0032433	filopodium tip	IEA	cellular component
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0035615	clathrin adaptor activity	TAS	contributes to
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030122	AP-2 adaptor complex	IDA	cellular component
GO:0072583	clathrin-dependent endocytosis	IDA	biological process
GO:0030122	AP-2 adaptor complex	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process
GO:0030130	clathrin coat of trans-Golgi network vesicle	NAS	cellular component
GO:0006897	endocytosis	NAS	biological process
GO:0006895	Golgi to endosome transport	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04721	Synaptic vesicle cycle
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq