Ap3d1 adaptor-related protein complex 3, delta 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap3d1provided by MGI
Official Full Name: adaptor-related protein complex 3, delta 1 subunitprovided by MGI
Primary source: MGI:MGI:107734
See related: Ensembl:ENSMUSG00000020198 AllianceGenome:MGI:107734
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: mh; Ap3d; Bolvr; mocha; mBLVR1
Summary: Involved in anterograde synaptic vesicle transport; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and synaptic vesicle budding from endosome. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including antigen processing and presentation, exogenous lipid antigen via MHC class Ib; establishment of protein localization; and positive regulation of NK T cell differentiation. Located in endosome membrane and terminal bouton. Is active in glutamatergic synapse; postsynapse; and presynaptic endosome. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 2; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human AP3D1 (adaptor related protein complex 3 subunit delta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 54.8), ovary adult (RPKM 50.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (80542790..80578137, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (80706956..80742303, complement)

Chromosome 10 - NC_000076.7 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 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?

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Title: A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Long noncoding RNA SNHG8 accelerates acute gouty arthritis development by upregulating AP3D1 in mice.
Title: Long noncoding RNA SNHG8 accelerates acute gouty arthritis development by upregulating AP3D1 in mice.
The linker of the delta-adaptin subunit of AP3 binds the VAMP7 longin domain and determines the structure of their complex.
Title: Structural basis of the intracellular sorting of the SNARE VAMP7 by the AP3 adaptor complex.
This study demonstrated that distinct brain regions differentially regulate AP-3-dependent synaptic vesicle biogenesis.
Title: Hermansky-Pudlak protein complexes, AP-3 and BLOC-1, differentially regulate presynaptic composition in the striatum and hippocampus.
Data suggest that adaptor-related protein complex 3 delta could be involved in the regulation of progenitor cell competence and the eventual ratio of resulting differentiated cells.
Title: Altered retinal cell differentiation in the AP-3 delta mutant (Mocha) mouse.
Assembly and function of AP-3 complexes in cells expressing mutant subunits
Title: Assembly and function of AP-3 complexes in cells expressing mutant subunits.
A null mutation in Ap3d in the mouse results in the mouse mutant "mocha" (mh). In addition to coat and eye color dilution and platelet storage pool deficiency, mocha mice have neurological impairment and are hyperactive.
Title: Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Spontaneous (3) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ap3d (e-PCR), detects polymorphism
- UniSTS:141097

RH124553 (e-PCR)
- UniSTS:161375

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to vacuole transport	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in clathrin-coated vesicle cargo loading, AP-3-mediated	NAS Non-traceable Author Statement more info	PubMed
involved_in endosome to melanosome transport	IEA Inferred from Electronic Annotation more info
involved_in endosome to melanosome transport	ISO Inferred from Sequence Orthology more info
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
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IEP Inferred from Expression Pattern more info	PubMed
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome	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
involved_in protein localization to membrane	IEA Inferred from Electronic Annotation more info
involved_in protein localization to membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein targeting	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to vacuole	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle budding from endosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle budding from endosome	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle budding from endosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle budding from endosome	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle coating	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle membrane organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic vesicle membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle recycling	NAS Non-traceable Author Statement more info	PubMed
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
involved_in vesicle-mediated transport in synapse	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport in synapse	IEP Inferred from Expression Pattern more info	PubMed
involved_in vesicle-mediated transport in synapse	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc ion import into lysosome	IEA Inferred from Electronic Annotation more info
involved_in zinc ion import into lysosome	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of AP-3 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-3 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	IDA Inferred from Direct Assay more info	PubMed
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 delta-1

Names: AP-3 complex subunit delta; adapter-related protein complex 3 subunit delta-1; adaptor-related protein complex 3 subunit delta-1; adaptor-related protein complex 3, delta subunit; adaptor-related protein complex AP-3, delta subunit; delta-adaptin

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_001428354.1 → NP_001415283.1 AP-3 complex subunit delta-1 isoform 2

Status: VALIDATED

Source sequence(s)

AC152410
NM_007460.3 → NP_031486.1 AP-3 complex subunit delta-1 isoform 1

See identical proteins and their annotated locations for NP_031486.1

Status: VALIDATED

Source sequence(s)

AC152410

Consensus CDS

CCDS35984.1

UniProtKB/Swiss-Prot

O54774

Related

ENSMUSP00000020420.8, ENSMUST00000020420.9

Conserved Domains (4) summary

pfam01602
Location:32 → 581

Adaptin_N; Adaptin N terminal region

pfam06375
Location:661 → 803

BLVR; Bovine leukaemia virus receptor (BLVR)

pfam12717
Location:155 → 265

Cnd1; non-SMC mitotic condensation complex subunit 1

sd00044
Location:151 → 172

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_000076.7 Reference GRCm39 C57BL/6J

Range

80542790..80578137 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155559.1 → XP_036011452.1 AP-3 complex subunit delta-1 isoform X1

Conserved Domains (3) summary

sd00044
Location:151 → 172

HEAT; HEAT repeat [structural motif]

pfam01602
Location:32 → 581

Adaptin_N; Adaptin N terminal region

pfam06375
Location:661 → 803

AP3D1; AP-3 complex subunit delta-1
XM_030244850.1 → XP_030100710.1 AP-3 complex subunit delta-1 isoform X2

Conserved Domains (3) summary

sd00044
Location:119 → 140

HEAT; HEAT repeat [structural motif]

pfam01602
Location:33 → 549

Adaptin_N; Adaptin N terminal region

pfam06375
Location:629 → 771

AP3D1; AP-3 complex subunit delta-1