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

    Gene ID: 8546, updated on 8-May-2017
    Official Symbol
    AP3B1provided by HGNC
    Official Full Name
    adaptor related protein complex 3 beta 1 subunitprovided 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]
    Orthologs
    Location:
    5q14.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 actin, beta pseudogene 2 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 RNA, U6 small nuclear 183, pseudogene Neighboring gene SCAMP1 antisense RNA 1 Neighboring gene secretory carrier membrane protein 1

    • 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
    Compare labs

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    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 subunit beta-1
    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)
      AC112197, BC038444, BX538041, DA889915
      Consensus CDS
      CCDS64186.1
      UniProtKB/Swiss-Prot
      O00203
      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)
      AC112197, BC038444, DA889915
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005248618.3XP_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_005248619.4XP_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]

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      76732015..77024021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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