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Aliases for AP3D1 Gene

Aliases for AP3D1 Gene

  • Adaptor-Related Protein Complex 3, Delta 1 Subunit 2 3
  • Adaptor-Related Protein Complex 3 Subunit Delta-1 3 4
  • AP-3 Complex Subunit Delta 3 4
  • Subunit Of Putative Vesicle Coat Adaptor Complex AP-3 3
  • Adapter-Related Protein Complex 3 Subunit Delta-1 3
  • AP-3 Complex Delta Subunit, Partial CDS 3
  • AP-3 Complex Subunit Delta-1 3
  • Delta-Adaptin, Partial CDS 3
  • Adaptin, Delta 3
  • Delta Adaptin 3
  • Delta-Adaptin 4
  • HBLVR 3
  • ADTD 3

External Ids for AP3D1 Gene

Previous GeneCards Identifiers for AP3D1 Gene

  • GC19M002163
  • GC19M002040
  • GC19M002051
  • GC19M001873

Summaries for AP3D1 Gene

Entrez Gene Summary for AP3D1 Gene

  • The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for AP3D1 Gene

AP3D1 (Adaptor-Related Protein Complex 3, Delta 1 Subunit) is a Protein Coding gene. Among its related pathways are Lysosome. GO annotations related to this gene include transporter activity and protein transporter activity.

UniProtKB/Swiss-Prot for AP3D1 Gene

  • Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Wiki entry for AP3D1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3D1 Gene

Genomics for AP3D1 Gene

Regulatory Elements for AP3D1 Gene

Genomic Location for AP3D1 Gene

Start:
2,100,988 bp from pter
End:
2,164,465 bp from pter
Size:
63,478 bases
Orientation:
Minus strand

Genomic View for AP3D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP3D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3D1 Gene

Proteins for AP3D1 Gene

  • Protein details for AP3D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14617-AP3D1_HUMAN
    Recommended name:
    AP-3 complex subunit delta-1
    Protein Accession:
    O14617
    Secondary Accessions:
    • O00202
    • O75262
    • Q59HF5
    • Q96G11
    • Q9H3C6

    Protein attributes for AP3D1 Gene

    Size:
    1153 amino acids
    Molecular mass:
    130158 Da
    Quaternary structure:
    • AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).
    SequenceCaution:
    • Sequence=AAG35473.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of an unrelated sequence found on chromosome 7.; Evidence={ECO:0000305}; Sequence=AAH10065.1; Type=Miscellaneous discrepancy; Note=Lack of 8 exons and truncation of 2 other exons in the C- terminus. Alternative splicing seems doubtful, since exon-intron junctions are not the consensus ones.; Evidence={ECO:0000305}; Sequence=BAD92041.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AP3D1 Gene

    Alternative splice isoforms for AP3D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP3D1 Gene

Proteomics data for AP3D1 Gene at MOPED

Post-translational modifications for AP3D1 Gene

  • Ubiquitination at Lys16 and Lys176
  • Modification sites at PhosphoSitePlus

Other Protein References for AP3D1 Gene

No data available for DME Specific Peptides for AP3D1 Gene

Domains for AP3D1 Gene

Protein Domains for AP3D1 Gene

Suggested Antigen Peptide Sequences for AP3D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14617

UniProtKB/Swiss-Prot:

AP3D1_HUMAN :
  • O14617
Family:
  • Belongs to the adaptor complexes large subunit family.
Similarity:
  • Contains 11 HEAT repeats.
genes like me logo Genes that share domains with AP3D1: view

No data available for Gene Families for AP3D1 Gene

Function for AP3D1 Gene

Molecular function for AP3D1 Gene

UniProtKB/Swiss-Prot Function: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals

Gene Ontology (GO) - Molecular Function for AP3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9303295
GO:0005488 binding --
GO:0008565 protein transporter activity --
genes like me logo Genes that share ontologies with AP3D1: view
genes like me logo Genes that share phenotypes with AP3D1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AP3D1 Gene

Localization for AP3D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3D1 Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP3D1 Gene COMPARTMENTS Subcellular localization image for AP3D1 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005794 Golgi apparatus TAS 9151686
GO:0010008 endosome membrane IDA 16162817
genes like me logo Genes that share ontologies with AP3D1: view

Pathways for AP3D1 Gene

SuperPathways for AP3D1 Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with AP3D1: view

Pathways by source for AP3D1 Gene

1 KEGG pathway for AP3D1 Gene

Gene Ontology (GO) - Biological Process for AP3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006726 eye pigment biosynthetic process TAS 9303295
GO:0006886 intracellular protein transport IEA --
GO:0008089 anterograde axon cargo transport ISS --
GO:0015031 protein transport --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with AP3D1: view

Transcripts for AP3D1 Gene

Unigene Clusters for AP3D1 Gene

Adaptor-related protein complex 3, delta 1 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AP3D1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 22a · 22b · 22c ^ 23a · 23b · 23c · 23d · 23e · 23f ^ 24a · 24b ^ 25a · 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b · 30c ·
SP1:
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7: - - - - - - - -
SP8:
SP9: -
SP10: - -
SP11:
SP12: -
SP13:

Relevant External Links for AP3D1 Gene

GeneLoc Exon Structure for
AP3D1
ECgene alternative splicing isoforms for
AP3D1

Expression for AP3D1 Gene

mRNA expression in normal human tissues for AP3D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3D1 Gene

SOURCE GeneReport for Unigene cluster for AP3D1 Gene Hs.512815

mRNA Expression by UniProt/SwissProt for AP3D1 Gene

O14617-AP3D1_HUMAN
Tissue specificity: Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis.
genes like me logo Genes that share expressions with AP3D1: view

No data available for mRNA differential expression in normal tissues for AP3D1 Gene

Orthologs for AP3D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AP3D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP3D1 35
  • 99.15 (n)
  • 99.59 (a)
AP3D1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP3D1 35
  • 85.04 (n)
  • 88.94 (a)
AP3D1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3D1 35
  • 86.31 (n)
  • 92.49 (a)
AP3D1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3d1 35
  • 83.82 (n)
  • 87.85 (a)
Ap3d1 16
Ap3d1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP3D1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3D1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap3d1 35
  • 83.56 (n)
  • 87.44 (a)
chicken
(Gallus gallus)
Aves AP3D1 35
  • 77.7 (n)
  • 86.18 (a)
AP3D1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3D1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.217 35
zebrafish
(Danio rerio)
Actinopterygii ap3d1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta g 36
  • 53 (a)
OneToOne
g 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea apd-3 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL076W 35
  • 50.41 (n)
  • 36.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL5 35
  • 44.46 (n)
  • 36.5 (a)
APL5 36
  • 28 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E19405g 35
  • 45 (n)
  • 35.01 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04652 35
  • 50 (n)
  • 41.93 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apl5 35
  • 47.85 (n)
  • 44.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
CSA.9291 36
  • 50 (a)
OneToMany
Species with no ortholog for AP3D1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP3D1 Gene

ENSEMBL:
Gene Tree for AP3D1 (if available)
TreeFam:
Gene Tree for AP3D1 (if available)

Paralogs for AP3D1 Gene

No data available for Paralogs for AP3D1 Gene

Variants for AP3D1 Gene

Sequence variations from dbSNP and Humsavar for AP3D1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs20567 -- 2,110,747(-) TCCTC(C/T)GTCCA reference, synonymous-codon
rs25672 -- 2,138,655(-) AACAT(A/C/T)GCGGT reference, synonymous-codon
rs25673 - 2,109,158(-) GCTCA(A/G)TCAAA reference, missense
rs734727 -- 2,116,467(+) CTAAC(C/G)CTCTG intron-variant
rs758286 -- 2,109,835(+) CGGAG(A/G)GGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP3D1 Gene

Variant ID Type Subtype PubMed ID
nsv910499 CNV Loss 21882294
dgv3612n71 CNV Loss 21882294
dgv3614n71 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
dgv3624n71 CNV Loss 21882294
dgv3625n71 CNV Loss 21882294
dgv3626n71 CNV Loss 21882294
nsv910619 CNV Loss 21882294
nsv910623 CNV Loss 21882294
nsv910624 CNV Gain 21882294
nsv910625 CNV Loss 21882294
nsv910626 CNV Loss 21882294
dgv3629n71 CNV Loss 21882294
nsv523590 CNV Loss 19592680
esv2674634 CNV Deletion 23128226
esv2717875 CNV Deletion 23290073
dgv3630n71 CNV Loss 21882294
nsv910631 CNV Loss 21882294
nsv828392 CNV Loss 20364138
esv23222 CNV Gain+Loss 19812545
esv2717876 CNV Deletion 23290073
esv1666079 CNV Deletion 17803354
nsv833706 CNV Loss 17160897
esv2674090 CNV Deletion 23128226
esv2659904 CNV Deletion 23128226
esv2717877 CNV Deletion 23290073
esv1514310 CNV Deletion 17803354
esv996177 CNV Deletion 20482838
esv2717878 CNV Deletion 23290073

Relevant External Links for AP3D1 Gene

HapMap Linkage Disequilibrium report
AP3D1
Human Gene Mutation Database (HGMD)
AP3D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3D1 Gene

Disorders for AP3D1 Gene

Relevant External Links for AP3D1

Genetic Association Database (GAD)
AP3D1
Human Genome Epidemiology (HuGE) Navigator
AP3D1
genes like me logo Genes that share disorders with AP3D1: view

No data available for UniProtKB/Swiss-Prot for AP3D1 Gene

Publications for AP3D1 Gene

  1. Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet. (PMID: 9303295) Ooi C.E. … Bonifacino J.S. (EMBO J. 1997) 2 3 4 23
  2. Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F. … Robinson M.S. (J. Cell Biol. 1997) 2 3 4
  3. Site-specific cross-linking reveals a differential direct interaction of class 1, 2, and 3 ADP-ribosylation factors with adaptor protein complexes 1 and 3. (PMID: 11926829) Austin C. … Tooze S.A. (Biochemistry 2002) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4

Products for AP3D1 Gene

Sources for AP3D1 Gene

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