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AP3B1 adaptor related protein complex 3 subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 8546, updated on 3-Mar-2026
Official Symbol
AP3B1provided by HGNC
Official Full Name
adaptor related protein complex 3 subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:566
See related
Ensembl:ENSG00000132842 MIM:603401; AllianceGenome:HGNC:566
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PE; HPS; HPS2; ADTB3; ADTB3A
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Expression
Ubiquitous expression in thyroid (RPKM 10.7), colon (RPKM 8.6) and 25 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See AP3B1 in Genome Data Viewer
Location:
5q14.1
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (78000522..78294698, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (78482312..78776325, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (77296346..77590522, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:77105415-77106614 Neighboring gene ACTB pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77140391-77141257 Neighboring gene TCBA and LOC101929154 interval homotypic clusters of transcription factor binding sites enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77147023-77147532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77147533-77148040 Neighboring gene NANOG hESC enhancer GRCh37_chr5:77167707-77168240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22703 Neighboring gene uncharacterized LOC101929154 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:77230857-77231031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77253041-77253552 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:77254064-77254574 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77254575-77255085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77283519-77284038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:77284039-77284558 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77312459-77313399 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77313400-77314339 Neighboring gene tRNA-Gln (anticodon TTG) 7-1 Neighboring gene heat shock protein 90 alpha family class B member 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77341766-77342342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77361187-77361740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22704 Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:77567345-77568075 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77590785-77591358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22705 Neighboring gene NFE2L2 motif-containing MPRA enhancer 287 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:77637103-77637770 Neighboring gene uncharacterized LOC124901010 Neighboring gene RNA, U6 small nuclear 183, pseudogene

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Genetic analysis of human p34CDC2 function in fission yeast. MacNeill SA, et al. Mol Gen Genet, 1993 Sep. PMID 8413179
  2. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Wenham M, et al. Haematologica, 2010 Feb. PMID 19679886, Free PMC Article
  3. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing M, et al. Pediatr Res, 2002 Feb. PMID 11809908
  4. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Jung J, et al. Blood, 2006 Jul 1. PMID 16537806, Free PMC Article
  5. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Enders A, et al. Blood, 2006 Jul 1. PMID 16551969

See all (168) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics.
    Title: HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics.
  2. Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
    Title: Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
  3. data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8.
    Title: Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
  4. point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively
    Title: Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
  5. Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
    Title: Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
  6. Using a co-affinity purification strategy, authors have identified the beta subunit of the AP-3 adapter protein complex, AP3B1, as a binding partner for the M proteins of the zoonotic paramyxoviruses Nipah virus and Hendra virus.
    Title: Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes.
  7. Data indicate that RUN and FYVE domain protein Rabip4'(RUFY1) interacts specifically and directly with adaptor protein complex AP-3.
    Title: AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.
  8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. The study provides a description of two unrelated individuals with Hermansky Pudlak syndrome type 2 associated with novel mutations in AP3B1.
    Title: Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hermansky-Pudlak syndrome 2
MedGen: C1842362 OMIM: 608233 GeneReviews: Hermansky-Pudlak Syndrome
Compare labs

EBI GWAS Catalog

Description
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
Pr55(Gag) gag AP3B1 deficiency in HPS2 fibroblasts inhibits HIV-1 Gag assembly and release. Expression of the AP3B1 reverses the inhibited assembly and release of HIV-1 in HPS2 fibroblasts PubMed
gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed
gag Changes of IP7 intracellular levels affect HIV-1 Gag release through modulation of AP3B1 and Kif3A interaction PubMed
matrix gag In the absence of Vpu, Env accumulates extensively within clathrin-coated endosomal structures, including the viral proteins Gag and MA; the tetraspanins CD63 and CD81; the adaptor protein complex AP-3; and AIP1/ALIX, a cellular cofactor for viral budding PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AP-3 adaptor complex binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T-helper 1 cell activation IEA
Inferred from Electronic Annotation
more info
  
involved_in anterograde axonal transport IEA
Inferred from Electronic Annotation
more info
  
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in anterograde synaptic vesicle transport IEA
Inferred from Electronic Annotation
more info
  
involved_in anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in antigen processing and presentation of peptide antigen via MHC class II IEA
Inferred from Electronic Annotation
more info
  
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular protein transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in melanosome assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in melanosome organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of CD4-positive, alpha-beta T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in toll-like receptor 4 signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of AP-3 adaptor complex IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi apparatus TAS
Traceable Author Statement
more info
 PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of clathrin adaptor complex IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome NAS
Non-traceable Author Statement
more info
 PubMed 
located_in lysosomal membrane HDA PubMed 
located_in membrane HDA PubMed 
part_of membrane coat IEA
Inferred from Electronic Annotation
more info
  
is_active_in microvesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
Preferred Names
AP-3 complex subunit beta-1
Names
AP-3 complex beta-3A subunit
adaptor protein complex AP-3 subunit beta-1
adaptor related protein complex 3 beta 1 subunit
beta-3A
beta-3A-adaptin
clathrin assembly protein complex 3 beta-1 large chain

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007268.1 RefSeqGene

    Range
    4950..297379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_170

mRNA and Protein(s)

  1. NM_001271769.2 → NP_001258698.1  AP-3 complex subunit beta-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon compared to variant 1. This transcript initiates translation at an alternate start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC024578, BC038444, BX538041, DA889915, KU178426
    Consensus CDS
    CCDS64186.1
    UniProtKB/TrEMBL
    A0A8Q3WKK0
    Related
    ENSP00000430597.1, ENST00000519295.7
    Conserved Domains (5) summary
    pfam01602
    Location:1 → 532
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:79 → 202
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:765 → 909
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:680 → 715
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:67 → 95
    HEAT; HEAT repeat [structural motif]

  2. NM_001410752.1 → NP_001397681.1  AP-3 complex subunit beta-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC024568, AC104108, AC112197
    Consensus CDS
    CCDS93737.1
    UniProtKB/TrEMBL
    A0A8Q3SHU2, A0A8Q3SIM7
    Related
    ENSP00000511880.1, ENST00000519888.6

  3. NM_003664.5 → NP_003655.3  AP-3 complex subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_003655.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC038444, DA889915, KU178426
    Consensus CDS
    CCDS4041.1
    UniProtKB/Swiss-Prot
    E5RJ68, O00203, O00580, Q7Z393, Q9HD66
    UniProtKB/TrEMBL
    A0A0S2Z5J4, A8K586
    Related
    ENSP00000255194.7, ENST00000255194.11
    Conserved Domains (5) summary
    pfam01602
    Location:46 → 581
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:128 → 251
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:814 → 958
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:729 → 764
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:116 → 144
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    78000522..78294698 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    78482312..78776325 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00203.3 GenPept UniProtKB/Swiss-Prot:O00203

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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