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Protein

Alpha-methylacyl-CoA racemase

Gene

AMACR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.

Catalytic activityi

(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.

Pathwayi: bile acid biosynthesis

This protein is involved in the pathway bile acid biosynthesis, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway bile acid biosynthesis and in Lipid metabolism.

Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei152NucleophileBy similarity1

GO - Molecular functioni

  • alpha-methylacyl-CoA racemase activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionIsomerase

Enzyme and pathway databases

BioCyciMetaCyc:HS01416-MONOMER
BRENDAi5.1.99.4 2681
ReactomeiR-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import
SABIO-RKiQ9UHK6
UniPathwayiUPA00199
UPA00221

Chemistry databases

SwissLipidsiSLP:000001289

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-methylacyl-CoA racemase (EC:5.1.99.4)
Alternative name(s):
2-methylacyl-CoA racemase
Gene namesi
Name:AMACR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000242110.7
HGNCiHGNC:451 AMACR
MIMi604489 gene
neXtProtiNX_Q9UHK6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Alpha-methylacyl-CoA racemase deficiency (AMACRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.
See also OMIM:614307
Congenital bile acid synthesis defect 4 (CBAS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency.
See also OMIM:214950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010665107L → P in CBAS4; inactive enzyme. 1 PublicationCorresponds to variant dbSNP:rs121917816EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNETi23600
MalaCardsiAMACR
MIMi214950 phenotype
614307 phenotype
OpenTargetsiENSG00000242110
Orphaneti79095 Congenital bile acid synthesis defect type 4
PharmGKBiPA24757

Polymorphism and mutation databases

BioMutaiAMACR
DMDMi313104070

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001947051 – 382Alpha-methylacyl-CoA racemaseAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei58N6-acetyllysineBy similarity1
Modified residuei87N6-acetyllysine; alternateBy similarity1
Modified residuei87N6-succinyllysine; alternateBy similarity1
Modified residuei268N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9UHK6
PaxDbiQ9UHK6
PeptideAtlasiQ9UHK6
PRIDEiQ9UHK6
ProteomicsDBi84369
84370 [Q9UHK6-2]
84371 [Q9UHK6-4]

PTM databases

iPTMnetiQ9UHK6
PhosphoSitePlusiQ9UHK6

Expressioni

Gene expression databases

BgeeiENSG00000242110
CleanExiHS_AMACR
ExpressionAtlasiQ9UHK6 baseline and differential
GenevisibleiQ9UHK6 HS

Organism-specific databases

HPAiCAB001809
HPA019527
HPA020912

Interactioni

GO - Molecular functioni

  • signaling receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117134, 7 interactors
ELMiQ9UHK6
STRINGi9606.ENSP00000371517

Structurei

3D structure databases

ProteinModelPortaliQ9UHK6
SMRiQ9UHK6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi380 – 382Microbody targeting signal3

Sequence similaritiesi

Belongs to the CaiB/BaiF CoA-transferase family.Curated

Phylogenomic databases

eggNOGiKOG3957 Eukaryota
COG1804 LUCA
GeneTreeiENSGT00530000063418
HOGENOMiHOG000219744
HOVERGENiHBG060891
InParanoidiQ9UHK6
KOiK01796
OMAiYVASWLF
OrthoDBiEOG091G0FPV
PhylomeDBiQ9UHK6
TreeFamiTF314188

Family and domain databases

Gene3Di3.40.50.10540, 2 hits
InterProiView protein in InterPro
IPR003673 CoA-Trfase_fam_III
IPR023606 CoA-Trfase_III_dom_sf
PfamiView protein in Pfam
PF02515 CoA_transf_3, 1 hit
SUPFAMiSSF89796 SSF89796, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHK6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALQGISVVE LSGLAPGPFC AMVLADFGAR VVRVDRPGSR YDVSRLGRGK
60 70 80 90 100
RSLVLDLKQP RGAAVLRRLC KRSDVLLEPF RRGVMEKLQL GPEILQRENP
110 120 130 140 150
RLIYARLSGF GQSGSFCRLA GHDINYLALS GVLSKIGRSG ENPYAPLNLL
160 170 180 190 200
ADFAGGGLMC ALGIIMALFD RTRTGKGQVI DANMVEGTAY LSSFLWKTQK
210 220 230 240 250
LSLWEAPRGQ NMLDGGAPFY TTYRTADGEF MAVGAIEPQF YELLIKGLGL
260 270 280 290 300
KSDELPNQMS MDDWPEMKKK FADVFAEKTK AEWCQIFDGT DACVTPVLTF
310 320 330 340 350
EEVVHHDHNK ERGSFITSEE QDVSPRPAPL LLNTPAIPSF KRDPFIGEHT
360 370 380
EEILEEFGFS REEIYQLNSD KIIESNKVKA SL
Length:382
Mass (Da):42,387
Last modified:November 30, 2010 - v2
Checksum:iE967D3221A90BEF8
GO
Isoform 2 (identifier: Q9UHK6-2) [UniParc]FASTAAdd to basket
Also known as: IBLi

The sequence of this isoform differs from the canonical sequence as follows:
     132-229: VLSKIGRSGE...YTTYRTADGE → GRNSIFKFFS...LRPCYFLGQK
     230-382: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:229
Mass (Da):25,914
Checksum:iFC361E1AC140CAF4
GO
Isoform 3 (identifier: Q9UHK6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-198: VLSKIGRSGE...AYLSSFLWKT → GRNSIFKFFS...AADQRTWTKV
     199-382: Missing.

Show »
Length:198
Mass (Da):22,183
Checksum:i1D677621A6EBD986
GO
Isoform 4 (identifier: Q9UHK6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-382: VKASL → AGSKFWILYPTHSNIQK

Note: Expression is elevated in prostate cancer.
Show »
Length:394
Mass (Da):43,860
Checksum:i55B6E53900632287
GO

Sequence cautioni

The sequence ACL67853 differs from that shown. Aberrant splicing.Curated
The sequence ACL67854 differs from that shown. Aberrant splicing.Curated
The sequence CAB44062 differs from that shown. Reason: Frameshift at positions 62, 65 and 114.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18P → R in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti128A → T in ABQ59031 (PubMed:17974005).Curated1
Sequence conflicti150L → V in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti183N → D in AAD10205 (Ref. 4) Curated1
Sequence conflicti257N → S in AAD10205 (Ref. 4) Curated1
Sequence conflicti327P → L in CAB44062 (PubMed:11060344).Curated1
Sequence conflicti340 – 342FKR → SKG in CAB44062 (PubMed:11060344).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0106609V → M5 PublicationsCorresponds to variant dbSNP:rs3195676EnsemblClinVar.1
Natural variantiVAR_01066152S → P in AMACRD and CBAS4; inactive enzyme. 2 PublicationsCorresponds to variant dbSNP:rs121917814EnsemblClinVar.1
Natural variantiVAR_010665107L → P in CBAS4; inactive enzyme. 1 PublicationCorresponds to variant dbSNP:rs121917816EnsemblClinVar.1
Natural variantiVAR_055616118R → Q. Corresponds to variant dbSNP:rs16892150EnsemblClinVar.1
Natural variantiVAR_010662175G → D2 PublicationsCorresponds to variant dbSNP:rs10941112EnsemblClinVar.1
Natural variantiVAR_010663201L → S4 PublicationsCorresponds to variant dbSNP:rs2287939EnsemblClinVar.1
Natural variantiVAR_055617238P → S. Corresponds to variant dbSNP:rs9282594EnsemblClinVar.1
Natural variantiVAR_055618239Q → H. Corresponds to variant dbSNP:rs34677EnsemblClinVar.1
Natural variantiVAR_055619261M → I. Corresponds to variant dbSNP:rs9282593EnsemblClinVar.1
Natural variantiVAR_055620261M → T2 PublicationsCorresponds to variant dbSNP:rs3195678EnsemblClinVar.1
Natural variantiVAR_010664277E → K4 PublicationsCorresponds to variant dbSNP:rs2278008EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037321132 – 229VLSKI…TADGE → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRSLIPYFNLYLQFLNISMQ NLFKVHTLLRPCYFLGQK in isoform 2. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_037323132 – 198VLSKI…FLWKT → GRNSIFKFFSVENSEIESVG STSRTEHVGWWSTFLYDLQD SRWGIHGCWSNRTPVLRAAD QRTWTKV in isoform 3. 2 PublicationsAdd BLAST67
Alternative sequenceiVSP_037324199 – 382Missing in isoform 3. 2 PublicationsAdd BLAST184
Alternative sequenceiVSP_037326230 – 382Missing in isoform 2. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_044875378 – 382VKASL → AGSKFWILYPTHSNIQK in isoform 4. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ130733 mRNA Translation: CAB44062.1 Frameshift.
AF158378 mRNA Translation: AAF22610.1
AY935981 mRNA Translation: AAY16192.1
AF047020 mRNA Translation: AAD10205.1
FJ498906 mRNA Translation: ACL67853.1 Sequence problems.
FJ498907 mRNA Translation: ACL67854.1 Sequence problems.
FJ498908 mRNA Translation: ACL67855.1
BT007193 mRNA Translation: AAP35857.1
EF560721 mRNA Translation: ABQ59031.1
AC139783 Genomic DNA No translation available.
CH471118 Genomic DNA Translation: EAX10816.1
BC009471 mRNA Translation: AAH09471.1
CCDSiCCDS3902.1 [Q9UHK6-1]
CCDS3903.1 [Q9UHK6-4]
CCDS54836.1 [Q9UHK6-5]
RefSeqiNP_001161067.1, NM_001167595.1 [Q9UHK6-5]
NP_055139.4, NM_014324.5 [Q9UHK6-1]
NP_976316.1, NM_203382.2 [Q9UHK6-4]
UniGeneiHs.508343

Genome annotation databases

EnsembliENST00000335606; ENSP00000334424; ENSG00000242110 [Q9UHK6-1]
ENST00000382072; ENSP00000371504; ENSG00000242110 [Q9UHK6-4]
ENST00000382085; ENSP00000371517; ENSG00000242110 [Q9UHK6-5]
ENST00000506639; ENSP00000427227; ENSG00000242110 [Q9UHK6-2]
GeneIDi23600
KEGGihsa:23600
UCSCiuc003jig.4 human [Q9UHK6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMACR_HUMAN
AccessioniPrimary (citable) accession number: Q9UHK6
Secondary accession number(s): A5YM47
, B8Y916, B8Y918, F8W9N1, O43673, Q3KT79, Q96GH1, Q9Y3Q1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 30, 2010
Last modified: June 20, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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