AP3B1 (adaptor related protein complex 3 subunit beta 1)

2014-11-01  

Identity

HGNC
AP3B1
LOCATION
5q14.1
LOCUSID
8546
ALIAS
ADTB3,ADTB3A,HPS,HPS2,PE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8546
MIM: 603401
HGNC: 566
Ensembl: ENSG00000132842

Variants:

dbSNP: 8546
ClinVar: 8546
TCGA: ENSG00000132842
COSMIC: AP3B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132842ENST00000255194O00203
ENSG00000132842ENST00000255194A0A0S2Z5J4
ENSG00000132842ENST00000519295O00203
ENSG00000132842ENST00000522901H0YBD0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
346379262022HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics.12
346379262022HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics.12
338675262021Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.15
338675262021Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.15
306309842019Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.17
306309842019Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.17
285853182017Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.11
285853182017Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.11
259809042015Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.9
259809042015Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.9
252101902014Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes.17
252101902014Matrix proteins of Nipah and Hendra viruses interact with beta subunits of AP-3 complexes.17
231447382012AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.16
231447382012AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.16
196798862010Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.24

Citation

Dessen P

AP3B1 (adaptor related protein complex 3 subunit beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60402/haematological-explorer/gene-fusions-explorer/meetings/