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

Gene ID: 8546, updated on 8-Jul-2018
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; Vega:OTTHUMG00000106919
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
See AP3B1 in Genome Data Viewer
Location:
5q14.1
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (78002326..78294755, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (77298150..77590579, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TCBA and LOC101929154 interval homotypic clusters of transcription factor binding sites enhancer Neighboring gene uncharacterized LOC101929154 Neighboring gene transfer RNA-Gln (TTG) 7-1 Neighboring gene heat shock protein 90kDa alpha family class B member 1 pseudogene Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 6 Neighboring gene NFE2L2 motif-containing MPRA enhancer 287 Neighboring gene RNA, U6 small nuclear 183, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hermansky Pudlak syndrome 2
MedGen: C1842362 OMIM: 608233 GeneReviews: Hermansky-Pudlak Syndrome
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NHGRI GWAS Catalog

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

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

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
    Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
  • Signaling by BRAF and RAF fusions, organism-specific biosystem (from REACTOME)
    Signaling by BRAF and RAF fusions, organism-specific biosystemIn addition to the more prevalent point mutations, BRAF and RAF1 are also subject to activation as a result of translocation events that yield truncated or fusion products (Jones et al, 2008; Cin et ...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde synaptic vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
antigen processing and presentation, exogenous lipid antigen via MHC class Ib IEA
Inferred from Electronic Annotation
more info
 
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport TAS
Traceable Author Statement
more info
PubMed 
melanosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of NK T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
protein targeting to lysosome IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AP-3 adaptor complex IEA
Inferred from Electronic Annotation
more info
 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
clathrin adaptor complex IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
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-adaptin
clathrin assembly protein complex 3 beta-1 large chain

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_001271769.1NP_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)
    BC038444, BX538041, DA889915, KU178426
    Consensus CDS
    CCDS64186.1
    UniProtKB/Swiss-Prot
    O00203
    UniProtKB/TrEMBL
    A0A0S2Z5J4
    Related
    ENSP00000430597.1, OTTHUMP00000222448, ENST00000519295.5, OTTHUMT00000369905
    Conserved Domains (5) summary
    pfam01602
    Location:1532
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:79202
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:765909
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:680715
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:6795
    HEAT; HEAT repeat [structural motif]
  2. NM_003664.4NP_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
    O00203
    UniProtKB/TrEMBL
    A0A0S2Z5J4
    Related
    ENSP00000255194.6, OTTHUMP00000133884, ENST00000255194.10, OTTHUMT00000225548
    Conserved Domains (5) summary
    pfam01602
    Location:46581
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:128251
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:814958
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:729764
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:116144
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    78002326..78294755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248618.4XP_005248675.1  AP-3 complex subunit beta-1 isoform X1

    Conserved Domains (5) summary
    pfam01602
    Location:46581
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:128251
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:814958
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:729764
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:116144
    HEAT; HEAT repeat [structural motif]
  2. XM_017010001.1XP_016865490.1  AP-3 complex subunit beta-1 isoform X2

  3. XM_005248619.5XP_005248676.1  AP-3 complex subunit beta-1 isoform X3

    Conserved Domains (5) summary
    pfam01602
    Location:46581
    Adaptin_N; Adaptin N terminal region
    pfam12717
    Location:128251
    Cnd1; non-SMC mitotic condensation complex subunit 1
    pfam14796
    Location:814860
    AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    pfam14797
    Location:729764
    SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    sd00044
    Location:116144
    HEAT; HEAT repeat [structural motif]
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