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

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, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 20.5), placenta adult (RPKM 16.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1.
Title: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1.
Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung.
Title: Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung.
The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice.
Title: The Mutation of the Ap3b1 Gene Causes Uterine Hypoplasia in Pearl Mice.
Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses.
Title: Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses.
Together, the results indicate that the Hps1 and Ap3b1 genes play distinct roles in male reproductive system development and spermatogenesis in mice
Title: Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.
eye-specific segregation in the dLGN and topographic refinement of ipsilateral axons in the SC and the dLGN, are impaired in RIM1/2 conditional knock-out (Rim-cDKO) mice
Title: RIM1/2 in retinal ganglion cells are required for the refinement of ipsilateral axons and eye-specific segregation.
HIV-2 particle release was dependent on the adaptor protein complex AP-3 and the newly identified AP-5 complex, but much less so on AP-1.
Title: Human Immunodeficiency Virus Type 2 (HIV-2) Gag Is Trafficked in an AP-3 and AP-5 Dependent Manner.
Data show that cytokine activation as a result of toll-like receptor 2 (TLR2) stimulation occurs at different intracellular locations and is mediated by the phagosomal trafficking molecule adaptor protein-3 (AP-3).
Title: Adaptor Protein-3-Mediated Trafficking of TLR2 Ligands Controls Specificity of Inflammatory Responses but Not Adaptor Complex Assembly.
has a minimal impact on protective anti-cytomegalovirus responses
Title: Interferon-α production by plasmacytoid dendritic cells is dispensable for an effective anti-cytomegalovirus response in adaptor protein-3-deficient mice.
Our study indicates that Ap3b1 gene play distinct roles in melanin production and tyrosinase distribution compared with Hps1 gene.
Title: The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C78395 (e-PCR)
- UniSTS:160330

AU015684 (e-PCR)
- UniSTS:208971

D13Mit299 (e-PCR), detects polymorphism
- UniSTS:141936

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

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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)

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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)

NM_009680.3 → NP_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:46 → 586

Adaptin_N; Adaptin N terminal region

pfam12717
Location:128 → 251

Cnd1; non-SMC mitotic condensation complex subunit 1

pfam14796
Location:825 → 969

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

pfam14797
Location:731 → 775

SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex

sd00044
Location:116 → 144

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

NC_000079.7 Reference GRCm39 C57BL/6J

Range

94492332..94702838

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (4) summary

sd00044
Location:116 → 144

HEAT; HEAT repeat [structural motif]

pfam01602
Location:46 → 582

Adaptin_N; Adaptin N terminal region

pfam14796
Location:824 → 969

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal

pfam14797
Location:734 → 812

SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
XM_036157838.1 → XP_036013731.1 AP-3 complex subunit beta-1 isoform X2

Conserved Domains (4) summary

sd00044
Location:116 → 144

HEAT; HEAT repeat [structural motif]

pfam14797
Location:734 → 812

SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex

pfam01602
Location:46 → 582

Adaptin_N; Adaptin N terminal region

pfam14796
Location:824 → 969

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal
XM_036157839.1 → XP_036013732.1 AP-3 complex subunit beta-1 isoform X3

Conserved Domains (4) summary

sd00044
Location:116 → 144

HEAT; HEAT repeat [structural motif]

pfam14797
Location:734 → 812

SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex

pfam01602
Location:46 → 582

Adaptin_N; Adaptin N terminal region

pfam14796
Location:824 → 969

AP3B1_C; Clathrin-adaptor complex-3 beta-1 subunit C-terminal