Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

ACY1

Description

aminoacylase 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Peptidases

Protein evidence

High

Entrez gene summary

This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Show image »

Main location(s)

Nucleus but not nucleoli

Additional location(s)

 

Staining summary

Localized to the nucleus but excluded from the nucleoli. Caution: Based on antibodies targeting proteins from multiple genes.

Reliability (APE)

Low

Antibodies in assay

CAB003695, HPA036174, HPA036175
 

NORMAL TISSUE & ORGAN SUMMARY

? »

Show image »

Expression summary

Mainly cytoplasmci expression in hepatocytes and renal tubules. Caution: Based on antibodies targeting proteins from multiple genes.

Tissue specificity

Expressed in 3 out of 82 cell types

Reliability (APE)

High

Antibodies in assay

CAB003695, HPA036174, HPA036175
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

? »

Staining summary

Antibody staining in 11% of the cancers

Antibodies in assay

CAB003695, HPA036174, HPA036175
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

? »

RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB003695

HPA036174

HPA036175

CAB003695

HPA036174

HPA036175

A-431 Skin Medium
ModerateWeak
A-549 Lung Medium
CACO-2 Colon High
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone Medium
WeakModerate
U-251 MG Brain Medium
NegativeWeakWeak

ANTIBODY SUMMARY

? »

Antibody

Clonality

Validation

Also mapped to

CAB003695 mAb
HPA036174 pAb
ABHD14A-ACY1 (100%)
HPA036175 pAb
ABHD14A-ACY1 (100%)