AP2A1 - adaptor related protein complex 2 subunit alpha 1 Gene

Also Known as ADTAA; CLAPA1; AP2-ALPHA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 160

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables low-density lipoprotein particle receptor binding IPI
IPI: Inferred from physical interaction
26005850 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16262731 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in clathrin-dependent endocytosis IDA
IDA: Inferred from direct assay
23676497 GOA
involved in clathrin-dependent endocytosis IMP
IMP: Inferred from mutant phenotype
22262466 GOA
involved in negative regulation of hyaluronan biosynthetic process IDA
IDA: Inferred from direct assay
24251095 GOA
involved in negative regulation of hyaluronan biosynthetic process IMP
IMP: Inferred from mutant phenotype
23509262 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of AP-2 adaptor complex IDA
IDA: Inferred from direct assay
23676497 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP2A1 Protein Structure

Adaptin_N

Adaptin_N: Adaptin N terminal region (31 - 589)

Alpha_adaptinC2

Alpha_adaptinC2: Adaptin C-terminal domain (751 - 857)

Alpha_adaptin_C

Alpha_adaptin_C: Alpha adaptin AP2, C-terminal domain (864 - 972)

  • 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

AP2A1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P82550 alpha 1-adaptin Antibody (YA2295) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (8)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-N14035 Garcinia cambogia extract Activator / Unkown
HY-161261 SARS-CoV-2-IN-81 Inhibitor / Unkown
HY-169405 AAK1/HDACs-IN-1 Inhibitor / Unkown
HY-RS00784 AP2A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00786 AP2B1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00787 AP2M1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00788 AP2S1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22390 Ap2m1 Mouse Pre-designed siRNA Set A Pre-designed Set / 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