AP1B1 Gene Summary [Human]

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Details

Type
Retained Intron
Official Symbol
AP1B1
Official Name
adaptor related protein complex 1 subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:554]
Ensembl ID
ENSG00000100280
Bio databases IDs NCBI: 162 Ensembl: ENSG00000100280
Aliases adaptor related protein complex 1 subunit beta 1
Synonyms adaptor protein complex AP-1, beta 1 subunit, adaptor protein complex AP-1, β 1 subunit, adaptor related protein complex 1 subunit beta 1, adaptor related protein complex 1 subunit β 1, ADTB1, AP105A, b2b1660Clo, BAM22, CLAPB2, CLATHRIN beta2 subunit, KIDAR, β 1 Adaptin
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AP1B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • appendage domain
  • non-SMC mitotic condensation complex subunit 1
  • protein kinase binding
  • Adaptin C-terminal domain
  • ear domain
  • hinge domain
  • Adaptin N terminal region
  • protein binding
  • HEAT repeats
  • trunk domain
  • Beta2-adaptin appendage, C-terminal sub-domain

Pathways

Biological processes and signaling networks where the AP1B1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive keratitis ichthyosis and deafness syndrome
  • hemorrhoid
  • Parkinson disease
  • congenital heart disease
  • infection by Dengue virus 2
regulated by
regulates
role in cell
  • assembly
  • packaging in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytoplasmic vesicle membrane
  • intracellular membrane-bounded organelle
  • Nucleus
  • Golgi Apparatus
  • Mitochondria
  • cytosol
  • Golgi membrane
  • trans Golgi network
  • lysosome membrane
  • synaptic vesicles
  • clathrin-coated vesicles
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AP1B1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • platelet dense granule organization
  • heart development
  • vesicle-mediated transport
  • kidney development
  • intracellular protein transport
  • determination of left/right symmetry

Cellular Component

Where in the cell the gene product is active
  • early endosome
  • cytoplasmic vesicle membrane
  • intracellular membrane-bounded organelle
  • AP-1 adaptor complex
  • cytosol
  • Golgi membrane
  • Golgi apparatus
  • lysosomal membrane
  • trans-Golgi network membrane

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • protein binding
  • clathrin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.