AP2A1 - adaptor related protein complex 2 subunit alpha 1 Gene

Homo sapiens

Also known as ADTAA; CLAPA1; AP2-ALPHA

Gene ID: 160 | Gene type: protein coding

About AP2A1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,767,001-49,807,114 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 4 paralogues. Broad expression in testis (RPKM 42.9), brain (RPKM 24.7) and 25 other tissues.

Summary

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 (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

AP2A1 Products(2)

mRNA	Protein	Name
NM_014203.3	NP_055018.2	AP-2 complex subunit alpha-1 isoform 1
NM_130787.3	NP_570603.2	AP-2 complex subunit alpha-1 isoform 2

AP2A1 Protein Structure

Adaptin_N

Alpha_adaptinC2

Alpha_adaptin_C

0
200
400
600
800
977 a.a.

Protein Preferred Names

Protein Names

AP-2 complex subunit alpha-1

100 kDa coated vesicle protein A

Related Diseases

Diseases

Alias

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3	Familial Hypocalciuric Hypercalcemia 3
Fbh3	Familial Hypocalciuric Hypercalcemia Type 3
Hypercalcemia, Familial Benign, Oklahoma Type	Hypocalciuric Hypercalcemia, Type Iii
Fhh Type 3	Hypocalciuric Hypercalcemia Type Iii
Familial Benign Hypercalcemia, Type Iii	Hypercalcemia, Familial Benign, Type Iii
Fbhok	Familial Benign Hypercalcemia, Oklahoma Variant
Familial Benign Hypercalcemia, Type 3	Hypercalcemia, Familial Benign, Type 3
Hypocalciuric Hypercalcemia, Familial, Type 3	Hypocalciuric Hypercalcemia, Familial 3
Familial Benign Hypercalcemia 3	Familial Benign Hypercalcemia Oklahoma Type
Familial Benign Hypocalciuric Hypercalcemia 3	Fbhh3
Fhh3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	Unkown
HY-RS00784	AP2A1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00786	AP2B1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00787	AP2M1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS00788	AP2S1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AP2A1	VGNC	VGNC:25983
Canis familiaris	AP2A1	VGNC	VGNC:37958
Macaca mulatta	AP2A1	VGNC	VGNC:69962
Mus musculus	AP2A1	MGD	MGI:101921
Rattus norvegicus	AP2A1	RGD	RGD:1306254
Felis catus	AP2A1	VGNC	VGNC:67724

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