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
192465702009Exploring the human genome with functional maps.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
199340392009Inositol pyrophosphate mediated pyrophosphorylation of AP3B1 regulates HIV-1 Gag release.50
175698842007A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease.49
118099082002Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.40
165519692006Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.40
165378062006Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.35
184104872008AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.25

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/ap3b1