Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AP3B1 Gene

Aliases for AP3B1 Gene

  • Adaptor Related Protein Complex 3 Beta 1 Subunit 2 3
  • Clathrin Assembly Protein Complex 3 Beta-1 Large Chain 3 4
  • Adaptor-Related Protein Complex 3, Beta 1 Subunit 2 3
  • Adaptor Related Protein Complex 3, Beta 1 Subunit 3 5
  • 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
  • ADTB3A 3 4
  • AP-3 Complex Beta-3A Subunit 3
  • ADTB3 3
  • HPS2 3
  • HPS 3
  • PE 3

External Ids for AP3B1 Gene

Previous GeneCards Identifiers for AP3B1 Gene

  • GC05M076103
  • GC05M077532
  • GC05M077336
  • GC05M077383
  • GC05M077384
  • GC05M077333
  • GC05M077296
  • GC05M072504

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 with neutropenia. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include binding and GTP-dependent protein 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

Regulatory Elements for AP3B1 Gene

Enhancers for AP3B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AP3B1 on UCSC Golden Path with GeneCards custom track

Promoters for AP3B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP3B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP3B1 Gene

Chromosome:
5
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

Genes around AP3B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP3B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP3B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Ubiquitination at Lys 512, Lys 523, Lys 552, and Lys 596
  • Modification sites at PhosphoSitePlus

Other Protein References for AP3B1 Gene

No data available for DME Specific Peptides for AP3B1 Gene

Domains & Families 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 :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
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.
genes like me logo Genes that share phenotypes with AP3B1: view

Human Phenotype Ontology for AP3B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AP3B1 Gene

MGI Knock Outs for AP3B1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
lysosome 5
vacuole 5
nucleus 3
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AP3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030117 membrane coat IEA --
GO:1904115 axon cytoplasm ISS --
genes like me logo Genes that share ontologies with AP3B1: view

Pathways & Interactions 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:0032438 melanosome organization IMP 11452004
GO:0048490 anterograde synaptic vesicle transport ISS --
genes like me logo Genes that share ontologies with AP3B1: view

No data available for SIGNOR curated interactions for AP3B1 Gene

Drugs & Compounds for AP3B1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for AP3B1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AP3B1: view

Protein tissue co-expression partners for AP3B1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia AP3B1 35
  • 99.73 (n)
  • 99.54 (a)
AP3B1 36
  • 100 (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 37
  • 47 (a)
rb 35
  • 60 (n)
  • 64.73 (a)
rb 36
  • 46 (a)
OneToMany
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

(3) 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
VAR_011596 Hermansky-Pudlak syndrome 2 (HPS2)
rs6453373 - 78,129,204(+) TCTTT(A/T)CATTC reference, missense
rs767367 -- 78,082,165(+) GGAAA(A/G)AAATG intron-variant
rs767368 -- 78,082,031(+) CCTTT(C/G)TGTAC intron-variant
rs2636980 -- 78,104,740(-) TAAAA(G/T)ATTTT 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

Variation tolerance for AP3B1 Gene

Residual Variation Intolerance Score: 35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.91; 67.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP3B1 Gene

HapMap Linkage Disequilibrium report
AP3B1
Human Gene Mutation Database (HGMD)
AP3B1

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

Disorders for AP3B1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for AP3B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 2
  • platelet storage pool deficiency
hermansky-pudlak syndrome with neutropenia
  • hps2
hermansky-pudlak syndrome
  • hps
platelet storage pool deficiency
  • dense body defect
oculocutaneous albinism
  • albinism, oculocutaneous
- elite association - COSMIC cancer census association via MalaCards
Search AP3B1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AP3B1

Genetic Association Database (GAD)
AP3B1
Human Genome Epidemiology (HuGE) Navigator
AP3B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP3B1
genes like me logo Genes that share disorders with AP3B1: view

No data available for Genatlas for AP3B1 Gene

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 67
  2. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez L.P. … Ribas G. (Exp. Dermatol. 2009) 3 23
  3. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. (PMID: 16537806) Jung J. … Klein C. (Blood 2006) 3 23
  4. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. (PMID: 11809908) Huizing M. … Gahl W.A. (Pediatr. Res. 2002) 3 23
  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

Content