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Aliases for AP3B1 Gene

Aliases for AP3B1 Gene

  • Adaptor Related Protein Complex 3 Beta 1 Subunit 2 3 5
  • 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
  • ADTB3A 3 4
  • Adaptor-Related Protein Complex 3, Beta 1 Subunit 2
  • AP-3 Complex Beta-3A Subunit 3
  • AP-3 Complex Subunit Beta-1 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. Among its related pathways are HIV Life Cycle 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G077645 2.3 VISTA 11.7 +649.5 649464 0.6 HDGF ARNT YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF263 RPL7P23 WDR41 AP3B1 AGGF1 OTP GC05M077675
GH05G078293 1.4 FANTOM5 ENCODE 6.8 +0.1 79 2.7 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 JMY AP3B1 GC05M078176
GH05G078287 0.9 Ensembl ENCODE 6.6 +6.6 6638 1.3 BHLHE40 ZNF384 ZNF664 JUND PRDM6 MAFF BCL11A FOS ZNF600 MAFK AP3B1 GC05M078176
GH05G078522 2 FANTOM5 Ensembl ENCODE dbSUPER 2.9 -232.2 -232155 9.0 PKNOX1 FOXA2 ATF1 ARNT SIN3A TCF12 CBX5 GATA2 FOS ZNF263 LHFPL2 SCAMP1-AS1 SCAMP1 AP3B1 ARSB PIR51536 GC05M078588
GH05G078222 0.8 ENCODE 6.9 +72.5 72484 0.3 HDAC1 HDGF PKNOX1 WRNIP1 BMI1 RAD21 CBX5 RELB ETV6 IKZF2 AP3B1 ATP6V1G1P6 GC05M078230
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000182925 -45 2800 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1

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

Post-translational modifications for AP3B1 Gene

  • Phosphorylated on serine residues.
  • Ubiquitination at posLast=512512, Lys523, Lys552, and posLast=596596
  • 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.

Gene Ontology (GO) - Molecular Function for AP3B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP3B1 gene
Compartment Confidence
lysosome 5
golgi apparatus 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 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 IEA,IDA 19946888
GO:0030117 membrane coat IEA --
GO:0030123 AP-3 adaptor complex IEA --
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:0006810 transport IEA --
GO:0006886 intracellular protein transport TAS,IEA 9931340
GO:0007596 blood coagulation IEA --
GO:0008089 anterograde axonal transport ISS --
genes like me logo Genes that share ontologies with AP3B1: view

No data available for SIGNOR curated interactions for AP3B1 Gene

Transcripts for AP3B1 Gene

Unigene Clusters for AP3B1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AP3B1 Gene



Protein tissue co-expression partners for AP3B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP3B1 Gene:

AP3B1

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.

Evidence on tissue expression from TISSUES for AP3B1 Gene

  • Blood(4.3)
  • Heart(4.2)
  • Intestine(4.2)
  • Pancreas(4.2)
  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AP3B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • lung
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • femur
  • hip
  • lower limb
  • thigh
General:
  • blood
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with AP3B1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia AP3B1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia AP3B1 34 35
  • 91.87 (n)
cow
(Bos Taurus)
Mammalia AP3B1 34 35
  • 90.84 (n)
oppossum
(Monodelphis domestica)
Mammalia AP3B1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap3b1 34 16 35
  • 84.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AP3B1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves AP3B1 34 35
  • 75.98 (n)
lizard
(Anolis carolinensis)
Reptilia AP3B1 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AP3B1 35
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rb 36 34 35
  • 60 (n)
worm
(Caenorhabditis elegans)
Secernentea apb-3 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL6 35 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5012 35
  • 52 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apl6 34
  • 45.39 (n)
Species where no ortholog for AP3B1 was found in the sources mined by GeneCards:
  • 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
rs121908904 Pathogenic, Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233] 78,129,219(-) GCAGC(G/T)TATTG reference, missense
rs121908905 Pathogenic 78,181,545(-) TAATT(A/G/T)GAAAT reference, missense, stop-gained
rs121908906 Pathogenic 78,141,268(-) GTGAA(C/T)GAGTT reference, stop-gained
rs121908907 Pathogenic 78,116,228(-) CAAAA(G/T)AATGG reference, stop-gained
rs869312835 Pathogenic 78,039,150(-) GGTCT(C/G)TATAC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3103n106 CNV deletion 24896259
esv1469212 CNV deletion 17803354
esv2666996 CNV deletion 23128226
esv2730333 CNV deletion 23290073
esv3566139 CNV deletion 23714750
esv3570207 CNV loss 25503493
esv3570208 CNV loss 25503493
esv3605502 CNV loss 21293372
esv3605504 CNV loss 21293372
esv4975 CNV loss 18987735
nsv1114694 CNV deletion 24896259
nsv328833 CNV deletion 16902084
nsv598700 CNV loss 21841781
nsv956493 CNV deletion 24416366
nsv968952 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
AP3B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • hps
oculocutaneous albinism
  • albinism, oculocutaneous
storage pool platelet disease
  • platelet storage pool deficiency
hermansky-pudlak syndrome 1
  • hps 1
- 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 22 64
  2. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez L.P. … Ribas G. (Exp. Dermatol. 2009) 3 22 46 64
  3. Characterization of the adaptor-related protein complex, AP-3. (PMID: 9151686) Simpson F. … Robinson M.S. (J. Cell Biol. 1997) 2 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for AP3B1 Gene

Sources for AP3B1 Gene

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