APEH (acylaminoacyl-peptide hydrolase)

2003-06-01  

Identity

HGNC
APEH
LOCATION
3p21.31
LOCUSID
327
ALIAS
AARE,ACPH,APH,D3F15S2,D3S48E,DNF15S2,OPH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 327
MIM: 102645
HGNC: 586
Ensembl: ENSG00000164062

Variants:

dbSNP: 327
ClinVar: 327
TCGA: ENSG00000164062
COSMIC: APEH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164062ENST00000296456P13798
ENSG00000164062ENST00000296456A0A024R2U9
ENSG00000164062ENST00000438011C9JIF9
ENSG00000164062ENST00000442186H7C1U0
ENSG00000164062ENST00000446089F8WBC4
ENSG00000164062ENST00000447436F8WEH5
ENSG00000164062ENST00000447541H7C273
ENSG00000164062ENST00000449966C9JLK2
ENSG00000164062ENST00000457042H7C393
ENSG00000164062ENST00000469362H0YFE5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
Eukaryotic Translation TerminationREACTOMER-HSA-72764
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Gene ExpressionREACTOMER-HSA-74160
Neutrophil degranulationREACTOMER-HSA-6798695

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
219316482011Genetic evidence supporting the association of protease and protease inhibitor genes with inflammatory bowel disease: a systematic review.9
205297632010Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.8
274068522016Influence of acylpeptide hydrolase polymorphisms on valproic acid level in Chinese epilepsy patients.4
288662412017Acylpeptide hydrolase is a component of the cellular response to DNA damage.4
203076172010Association analysis of 3p21 with Crohn's disease in a New Zealand population.2

Citation

Dessen P

APEH (acylaminoacyl-peptide hydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/668/apeh-(acylaminoacyl-peptide-hydrolase)