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GENE AND PROTEIN SUMMARY

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Gene name

AMACR

Description

alpha-methylacyl-CoA racemase

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane, Vesicles

Additional location(s)

 

Staining summary

Localized to plasma membrane and vesicles.

Reliability (APE)

Low

Antibodies in assay

CAB001809, HPA019527, HPA020912
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Granular cytoplasmic expression i selective tissues, most abundant in renal tubules.

Tissue specificity

Expressed in 12 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

CAB001809, HPA019527, HPA020912
 

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

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Staining summary

Antibody staining in 30% of the cancers

Antibodies in assay

CAB001809, HPA019527, HPA020912
 

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

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB001809

HPA019527

HPA020912

CAB001809

HPA019527

HPA020912

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB001809 mAb
HPA019527 pAb
HPA020912 pAb