AMACR

GENERAL INFORMATION

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Gene name

AMACR

Gene description

Alpha-methylacyl-CoA racemase

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA019527 , HPA020912 , CAB001809
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

AMACR (HGNC Symbol)

Synonyms

RACE

Description

Alpha-methylacyl-CoA racemase (HGNC Symbol)

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]

Chromosome

5

Cytoband

p13.2

Chromosome location (bp)

33986178 - 34008108

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000242110 (version 78.38)

Entrez gene

23600

UniProt

Q9UHK6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHK6

Antibodypedia

AMACR antibodies


PROTEIN BROWSER

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ENST00000335606
 
ENST00000382068
 
ENST00000382072
 
ENST00000382085
 
ENST00000426255
 
ENST00000502637
 
ENST00000512079
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMACR-001 ENSP00000334424
ENST00000335606
Q9UHK6
Show all »
Show » Show » 382 42.4 No 0
AMACR-002 ENSP00000371504
ENST00000382072
Q9UHK6
Show all »
Show » Show » 198 22.2 No 0
AMACR-003 ENSP00000424351
ENST00000502637
D6RB81
Show all »
Show » Show » 367 40.7 No 0
AMACR-004 ENSP00000476965
ENST00000426255
V9GYP4
Show all »
Show » Show » 288 31.7 No 0
AMACR-005 ENSP00000477411
ENST00000512079
V9GZ45
Show all »
Show » Show » 260 28.5 No 0
AMACR-006 ENSP00000477108
ENST00000382068
V9GYU9
Show all »
Show » Show » 281 30.8 No 0
AMACR-008 ENSP00000371517
ENST00000382085
Q9UHK6
Show all »
Show » Show » 394 43.9 No 0