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

    Gene ID: 8546, updated on 4-Jul-2021

    Summary

    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
    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
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    Genomic context

    See AP3B1 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (78000522..78294704, complement)
    105.20201022 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 TCBA and LOC101929154 interval homotypic clusters of transcription factor binding sites enhancer Neighboring gene uncharacterized LOC101929154 Neighboring gene tRNA-Gln (anticodon TTG) 7-1 Neighboring gene heat shock protein 90 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
    GeneReviews: Not available
    Hermansky-Pudlak syndrome 2
    MedGen: C1842362 OMIM: 608233 GeneReviews: Hermansky-Pudlak Syndrome
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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
    PubMed 
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in antigen processing and presentation, exogenous lipid antigen via MHC class Ib IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular protein modification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular zinc ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of protein localization to mitochondrial membrane involved in mitochondrial fission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granulocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet dense granule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NK T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein targeting to lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle budding from endosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in toll-like receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    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 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 lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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_001271769.2NP_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/Swiss-Prot
      O00203
      UniProtKB/TrEMBL
      A0A0S2Z5J4
      Related
      ENSP00000430597.1, ENST00000519295.5
      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_003664.5NP_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
      ENSP00000255194.7, ENST00000255194.11
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      78000522..78294704 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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