Contents

AP4B1

Protein-coding gene in the species Homo sapiens

AP4B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2MJ7
Identifiers
Aliases	AP4B1, BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
External IDs	OMIM: 607245; MGI: 1337130; HomoloGene: 38203; GeneCards: AP4B1; OMA:AP4B1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.2 Start 113,894,194 bp[1] End 113,905,201 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.2 Start 103,716,836 bp[2] End 103,729,341 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte cerebellar hemisphere right hemisphere of cerebellum thymus rectum spleen body of pancreas mucosa of ileum right uterine tube pancreatic epithelial cell Top expressed in spermatocyte spermatid bone marrow granulocyte testicle proximal tubule ganglionic eminence liver right kidney quadriceps femoris muscle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding clathrin binding Cellular component membrane coat Golgi apparatus trans-Golgi network membrane endosome lumen membrane clathrin adaptor complex trans-Golgi network cytosol extrinsic component of membrane AP-4 adaptor complex Biological process protein transport intracellular protein transport vesicle-mediated transport protein targeting protein localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10717 67489 Ensembl ENSG00000134262 ENSMUSG00000032952 UniProt Q9Y6B7 Q9WV76 RefSeq (mRNA) NM_001253852 NM_001253853 NM_001308312 NM_006594 NM_001163552 NM_001163553 NM_026193 RefSeq (protein) NP_001240781 NP_001240782 NP_001295241 NP_006585 NP_001157024 NP_001157025 NP_080469 Location (UCSC) Chr 1: 113.89 – 113.91 Mb Chr 3: 103.72 – 103.73 Mb PubMed search [3] [4]
Wikidata
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AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.^[5][6]

Function[edit]

The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1, this protein) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1)^[6]

Interactions[edit]

AP4B1 has been shown to interact with AP4M1.^[7]

Clinical relevance[edit]

AP4-complex-mediated trafficking plays a crucial role in brain development and functioning.^[8][9]

References[edit]

External links[edit]

• Human AP4B1 genome location and AP4B1 gene details page in the UCSC Genome Browser.
• PDBe-KB provides an overview of all the structure information available in the PDB for Human AP-4 complex subunit beta-1

Further reading[edit]

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