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Aliases for AP3B1 Gene

Aliases for AP3B1 Gene

  • Adaptor-Related Protein Complex 3, Beta 1 Subunit 2 3
  • ADTB3A 3 4 6
  • Clathrin Assembly Protein Complex 3 Beta-1 Large Chain 3 4
  • Adaptor-Related Protein Complex 3 Subunit Beta-1 3 4
  • Adaptor Protein Complex AP-3 Subunit Beta-1 3 4
  • Beta-3A-Adaptin 3 4
  • HPS2 3 6
  • AP-3 Complex Beta-3A Subunit 3
  • AP-3 Complex Subunit Beta-1 3
  • ADTB3 3
  • HPS 3
  • PE 3

External Ids for AP3B1 Gene

Summaries for AP3B1 Gene

Entrez Gene Summary for AP3B1 Gene

  • 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]

GeneCards Summary for AP3B1 Gene

AP3B1 (Adaptor-Related Protein Complex 3, Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP3B1 include hermansky-pudlak syndrome 2 and hermansky-pudlak syndrome 1. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include protein phosphatase binding. An important paralog of this gene is AP3B2.

UniProtKB/Swiss-Prot for AP3B1 Gene

  • Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. 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 AP3B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP3B1 Gene

Genomics for AP3B1 Gene

Genomic Location for AP3B1 Gene

Start:
78,000,525 bp from pter
End:
78,294,755 bp from pter
Size:
294,231 bases
Orientation:
Minus strand

Genomic View for AP3B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP3B1 Gene

Regulatory Elements for AP3B1 Gene

Proteins for AP3B1 Gene

  • Protein details for AP3B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00203-AP3B1_HUMAN
    Recommended name:
    AP-3 complex subunit beta-1
    Protein Accession:
    O00203
    Secondary Accessions:
    • E5RJ68
    • O00580
    • Q7Z393
    • Q9HD66

    Protein attributes for AP3B1 Gene

    Size:
    1094 amino acids
    Molecular mass:
    121320 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=CAD97982.1; Type=Frameshift; Positions=1011; Evidence={ECO:0000305}; Sequence=CAD97982.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for AP3B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP3B1 Gene

Proteomics data for AP3B1 Gene at MOPED

Post-translational modifications for AP3B1 Gene

  • Phosphorylated on serine residues.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys512, Lys523, Lys552, Lys596, Lys602, and Lys658

Other Protein References for AP3B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AP3B1 Gene

Domains for AP3B1 Gene

Suggested Antigen Peptide Sequences for AP3B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00203

UniProtKB/Swiss-Prot:

AP3B1_HUMAN
Family:
  • Belongs to the adaptor complexes large subunit family.:
    • O00203
genes like me logo Genes that share domains with AP3B1: view

No data available for Gene Families for AP3B1 Gene

Function for AP3B1 Gene

Molecular function for AP3B1 Gene

UniProtKB/Swiss-Prot Function: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. 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 AP3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0019903 protein phosphatase binding IPI 17622474
GO:0030742 GTP-dependent protein binding IPI 22511774
genes like me logo Genes that share ontologies with AP3B1: view
genes like me logo Genes that share phenotypes with AP3B1: view

Animal Models for AP3B1 Gene

MGI Knock Outs for AP3B1:

miRNA for AP3B1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for AP3B1 Gene

Localization for AP3B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP3B1 Gene

Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP3B1 Gene COMPARTMENTS Subcellular localization image for AP3B1 gene
Compartment Confidence
golgi apparatus 5
cytosol 2
lysosome 2
vacuole 2
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IDA 19946888
GO:0030117 membrane coat --
GO:0030123 AP-3 adaptor complex IEA --
genes like me logo Genes that share ontologies with AP3B1: view

Pathways for AP3B1 Gene

genes like me logo Genes that share pathways with AP3B1: view

Pathways by source for AP3B1 Gene

Gene Ontology (GO) - Biological Process for AP3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IEA --
GO:0006886 intracellular protein transport TAS 9931340
GO:0007596 blood coagulation IEA --
GO:0008089 anterograde axon cargo transport ISS --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with AP3B1: view

Transcripts for AP3B1 Gene

Unigene Clusters for AP3B1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for AP3B1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2:

ExUns: 26 ^ 27
SP1:
SP2:

Relevant External Links for AP3B1 Gene

GeneLoc Exon Structure for
AP3B1
ECgene alternative splicing isoforms for
AP3B1

Expression for AP3B1 Gene

mRNA expression in normal human tissues for AP3B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP3B1 Gene

SOURCE GeneReport for Unigene cluster for AP3B1 Gene Hs.532091

mRNA Expression by UniProt/SwissProt for AP3B1 Gene

O00203-AP3B1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with AP3B1: view

No data available for mRNA differential expression in normal tissues for AP3B1 Gene

Orthologs for AP3B1 Gene

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

Orthologs for AP3B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP3B1 35
  • 99.73 (n)
  • 99.54 (a)
AP3B1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP3B1 35
  • 90.84 (n)
  • 91.79 (a)
AP3B1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP3B1 35
  • 91.87 (n)
  • 92.57 (a)
AP3B1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3b1 35
  • 84.03 (n)
  • 86.75 (a)
Ap3b1 16
Ap3b1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP3B1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP3B1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3B1 35
  • 75.98 (n)
  • 80.35 (a)
AP3B1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP3B1 36
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AP3B1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rb 35
  • 60 (n)
  • 64.73 (a)
rb 36
  • 46 (a)
OneToMany
rb 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea apb-3 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL6 36
  • 23 (a)
OneToMany
APL6 38
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apl6 35
  • 45.39 (n)
  • 36.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5012 36
  • 52 (a)
OneToMany
Species with no ortholog for AP3B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AP3B1 Gene

ENSEMBL:
Gene Tree for AP3B1 (if available)
TreeFam:
Gene Tree for AP3B1 (if available)

Paralogs for AP3B1 Gene

Paralogs for AP3B1 Gene

Selected SIMAP similar genes for AP3B1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AP3B1: view

Variants for AP3B1 Gene

Sequence variations from dbSNP and Humsavar for AP3B1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs34433 -- 78,109,329(-) TTGAA(A/G)TAGAC intron-variant
rs34434 -- 78,107,897(-) TGTAA(C/T)TATAA intron-variant
rs34435 -- 78,061,758(+) ACACT(G/T)ACATC intron-variant
rs34436 -- 78,063,264(+) CTACA(A/G)CTCAT intron-variant
rs41132 -- 78,113,018(+) CAGGG(A/C)GAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AP3B1 Gene

Variant ID Type Subtype PubMed ID
nsv882213 CNV Loss 21882294
esv2666996 CNV Deletion 23128226
esv4975 CNV Deletion 18987735
esv1469212 CNV Deletion 17803354
nsv328833 CNV Loss 16902084
esv2730333 CNV Deletion 23290073

Relevant External Links for AP3B1 Gene

HapMap Linkage Disequilibrium report
AP3B1
Human Gene Mutation Database (HGMD)
AP3B1
Locus Specific Mutation Databases (LSDB)
AP3B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP3B1 Gene

Disorders for AP3B1 Gene

(1) OMIM Diseases for AP3B1 Gene (603401)

UniProtKB/Swiss-Prot

AP3B1_HUMAN
  • Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. {ECO:0000269 PubMed:10024875}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for AP3B1 Gene

Disease -log(P) Hits PubMed IDs
hermansky-pudlak syndrome 96.7 8
albinism oculocutaneous 94.7 4
bleeding 44 3

Relevant External Links for AP3B1

GeneTests
AP3B1
GeneReviews
AP3B1
Genetic Association Database (GAD)
AP3B1
Human Genome Epidemiology (HuGE) Navigator
AP3B1
genes like me logo Genes that share disorders with AP3B1: view

Publications for AP3B1 Gene

  1. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. (PMID: 9182526) Dell'Angelica E.C. … Bonifacino J.S. (J. Biol. Chem. 1997) 2 3 4 23
  2. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez L.P. … Ribas G. (Exp. Dermatol. 2009) 3 23 48
  3. Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F. … Robinson M.S. (J. Cell Biol. 1997) 2 3 4
  4. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (PMID: 10024875) Dell'Angelica E.C. … Bonifacino J.S. (Mol. Cell 1999) 3 4
  5. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. (PMID: 9931340) Feng L. … Swank R.T. (Hum. Mol. Genet. 1999) 3 23

Products for AP3B1 Gene

Sources for AP3B1 Gene

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