AMACR

Protein identityUniProt · HPA

UniProt accession

Q9UHK6

Gene

AMACR

Ensembl

ENSG00000242110

Chromosome

5

Canonical length

382 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles,Peroxisomes,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

382 residues, UniProt reviewed canonical sequence.

>Q9UHK6|AMACR
     1  MALQGISVVE LSGLAPGPFC AMVLADFGAR VVRVDRPGSR YDVSRLGRGK RSLVLDLKQP
    61  RGAAVLRRLC KRSDVLLEPF RRGVMEKLQL GPEILQRENP RLIYARLSGF GQSGSFCRLA
   121  GHDINYLALS GVLSKIGRSG ENPYAPLNLL ADFAGGGLMC ALGIIMALFD RTRTGKGQVI
   181  DANMVEGTAY LSSFLWKTQK LSLWEAPRGQ NMLDGGAPFY TTYRTADGEF MAVGAIEPQF
   241  YELLIKGLGL KSDELPNQMS MDDWPEMKKK FADVFAEKTK AEWCQIFDGT DACVTPVLTF
   301  EEVVHHDHNK ERGSFITSEE QDVSPRPAPL LLNTPAIPSF KRDPFIGEHT EEILEEFGFS
   361  REEIYQLNSD KIIESNKVKA SL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AMACR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

168 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AMACR.

Disease | AllUniProt

Conditions AMACR is implicated in, by any mechanism.

• Alpha-methylacyl-CoA racemase deficiency (AMACRD) MIM:614307
• Congenital bile acid synthesis defect 4 (CBAS4) MIM:214950

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 453 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital bile acid synthesis defect 4
• Inborn genetic diseases
• Alpha-methylacyl-CoA racemase deficiency
• AMACR-related disorder
• Autosomal recessive AMACR-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0.03

gnomAD missense Z

0.56

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bile acid biosynthetic process
• bile acid metabolic process
• fatty acid beta-oxidation using acyl-CoA oxidase

Molecular functions

• signaling receptor binding
• alpha-methylacyl-CoA racemase activity

Cellular components

• cytoplasm
• cytosol
• mitochondrion
• peroxisomal matrix
• peroxisome
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• CoA-transferase family III
• CoA-transferase family III domain 1 superfamily
• CoA-transferase family III domain 3 superfamily
• CoA-transferase family III
• Coenzyme A-transferase family III

KeywordsUniProt

• Acetylation
• Intrahepatic cholestasis
• Isomerase
• Mitochondrion
• Peroxisome