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    Ap3b1 adaptor-related protein complex 3, beta 1 subunit [ Mus musculus (house mouse) ]

    Gene ID: 11774, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ap3b1provided by MGI
    Official Full Name
    adaptor-related protein complex 3, beta 1 subunitprovided by MGI
    Primary source
    MGI:MGI:1333879
    See related
    Ensembl:ENSMUSG00000021686 AllianceGenome:MGI:1333879
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    pe; AP-3; Hps2; rim2; pearl; beta3A
    Summary
    Predicted to enable GTP-dependent protein binding activity and protein phosphatase binding activity. Involved in anterograde synaptic vesicle transport. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on mRNA transcription by RNA polymerase II and regulation of catalytic activity. Acts upstream of or within several processes, including establishment of protein localization to organelle; hemopoiesis; and vesicle organization. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome 2 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 20.5), placenta adult (RPKM 16.4) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ap3b1 in Genome Data Viewer
    Location:
    13 C3; 13 49.22 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (94492332..94702838)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (94358960..94566316)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38653 Neighboring gene predicted gene, 41022 Neighboring gene STARR-seq mESC enhancer starr_35305 Neighboring gene predicted gene 9776 Neighboring gene STARR-seq mESC enhancer starr_35306 Neighboring gene STARR-seq mESC enhancer starr_35307 Neighboring gene STARR-seq mESC enhancer starr_35309 Neighboring gene predicted gene, 32305 Neighboring gene predicted gene, 32351

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (3) 
    • Spontaneous (14)  1 citation
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTP-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in anterograde synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in anterograde synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within antigen processing and presentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within antigen processing and presentation, exogenous lipid antigen via MHC class Ib IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in clathrin-coated vesicle cargo loading, AP-3-mediated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within establishment of protein localization to mitochondrial membrane involved in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within granulocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within homeostasis of number of cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_positive_effect interferon-alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within intracellular zinc ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lung morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_negative_effect mRNA transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within platelet dense granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of NK T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein modification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein targeting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein targeting to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_negative_effect regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within respiratory system process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skin epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within toll-like receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-3 adaptor complex NAS
    Non-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 early endosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in microvesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    AP-3 complex subunit beta-1
    Names
    adapter-related protein complex 3 subunit beta-1
    adaptor protein complex AP-3 beta-1 subunit
    adaptor protein complex AP-3 subunit beta-1
    adaptor-related protein complex 3 subunit beta-1
    adaptor-related protein complex AP-3 beta 1 subunit
    beta-3A-adaptin
    beta3A-adaptin
    clathrin assembly protein complex 3 beta-1 large chain
    recombination induced mutation 2

    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.

    mRNA and Protein(s)

    1. NM_009680.3NP_033810.2  AP-3 complex subunit beta-1

      See identical proteins and their annotated locations for NP_033810.2

      Status: VALIDATED

      Source sequence(s)
      AK143559, AK163996, AK171595, BQ032961, CK129787
      Consensus CDS
      CCDS26693.1
      UniProtKB/Swiss-Prot
      E9QQ08, Q91YR4, Q9Z1T1
      Related
      ENSMUSP00000022196.4, ENSMUST00000022196.5
      Conserved Domains (5) summary
      pfam01602
      Location:46586
      Adaptin_N; Adaptin N terminal region
      pfam12717
      Location:128251
      Cnd1; non-SMC mitotic condensation complex subunit 1
      pfam14796
      Location:825969
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
      pfam14797
      Location:731775
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      sd00044
      Location:116144
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      94492332..94702838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517523.5XP_006517586.1  AP-3 complex subunit beta-1 isoform X1

      Conserved Domains (4) summary
      sd00044
      Location:116144
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:46582
      Adaptin_N; Adaptin N terminal region
      pfam14796
      Location:824969
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
      pfam14797
      Location:734812
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
    2. XM_036157838.1XP_036013731.1  AP-3 complex subunit beta-1 isoform X2

      Conserved Domains (4) summary
      sd00044
      Location:116144
      HEAT; HEAT repeat [structural motif]
      pfam14797
      Location:734812
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam01602
      Location:46582
      Adaptin_N; Adaptin N terminal region
      pfam14796
      Location:824969
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
    3. XM_036157839.1XP_036013732.1  AP-3 complex subunit beta-1 isoform X3

      Conserved Domains (4) summary
      sd00044
      Location:116144
      HEAT; HEAT repeat [structural motif]
      pfam14797
      Location:734812
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam01602
      Location:46582
      Adaptin_N; Adaptin N terminal region
      pfam14796
      Location:824969
      AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

    RNA

    1. XR_001780749.2 RNA Sequence

    2. XR_004937934.1 RNA Sequence

    3. XR_382728.4 RNA Sequence