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Aliases & Descriptions for AMACR
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CBAS4 2 , 5 EC 5.1.99.4 3 RACE 1 , 2
Descriptions 2-methylacyl-CoA racemase 3 alpha-methylacyl-CoA racemase 2
Search outside databases for aliases for AMACR genePrevious GC identifers: GC05M033933 GC05M034446 GC05M034032 GC05M034033
Summaries for AMACR (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AMACR : Alpha-methylacyl-CoA racemase is responsible for the conversion of pristanoyl-CoA and C27-bileacyl-CoAs to their (S)-stereoisomers, which are the only stereoisomers that can be degraded viaperoxisomal beta-oxidation.[supplied by OMIM] UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 Function : Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversionof pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers
Gene Wiki entry for AMACR
Genomic Location for AMACR
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AMACR gene Entrez Gene cytogenetic band: 5p13 Ensembl cytogenetic band: 5p13.3 HGNC cytogenetic band: 5p13.2-q11.1 AMACR Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05M034023:
(about GC identifiers )
Start:
34,023,069 bp from pter
End:
34,160,396 bp from pter
Size:
137,328 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000005.8 NT_006576.15 Proteins for AMACR
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 (See
protein sequence )Recommended Name: Alpha-methylacyl-CoA racemase Size : 382 amino acids; 42360 Da
Subcellular location : Peroxisome. Mitochondrion
Sequence caution : Sequence=CAB44062.1; Type=Frameshift; Positions=62, 65, 114;
Secondary accessions : A5YM47 B8Y916 B8Y918 O43673 Q96GH1 Q9Y3Q1Alternative splicing : 4 isoforms : Q9UHK6-1 Q9UHK6-2 Q9UHK6-3 Q9UHK6-4
REFSEQ proteins (2 alternative transcripts):
NP_055139.4 NP_976316.1 ENSEMBL proteins: ENSP00000371488 ENSP00000371497 ENSP00000371511 ENSP00000231338 ENSP00000371500 ENSP00000371504 ENSP00000334424 ENSP00000371517 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for AMACR: Assays for AMACR:
Protein
Domains/ Families for AMACR(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9UHK6 ProtoNet protein and cluster: Q9UHK6
1 Blocks protein family : IPB003673 L-carnitine dehydratase/bile acid-inducible protein F UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 Similarity : Belongs to the caiB/baiF CoA-transferase family
Gene Function for AMACR
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_014324 Applied Biosystems Silencer ® siRNAs for AMACR Sigma-Aldrich siRNA and siRNA Panels for AMACR Sigma-Aldrich shRNA for AMACR Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_014324                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_014324                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_014324  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_014324 UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 Function : Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversionof pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers Catalytic activity : (2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoAEnzyme Number (IUBMB): EC 5.1.99.4
Genatlas biochemistry entry for AMACR :alpha-methylacyl-CoA racemase,expressed in liver,peroxisomal,converting pristanoyl-CoA and C27 betaacyl-CoA to their (5) stereoisomers,essential step for the formation of cholic acid by the normalperoxisomal pathway
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Amacr) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008111 alpha-methylacyl-CoA racemase activity
IEA -- GO:0016853 isomerase activity
IEA --
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Pathways & Interactions for AMACR
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6 Pathway : Lipid metabolism; bile acid biosynthesisPathway : Lipid metabolism; fatty acid metabolism
5/14 Interacting proteins for AMACR (ENSP00000371517 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008152 metabolic process
IEA --
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Drugs & Compounds for AMACR (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for AMACR 10/21 Novoseek chemical compound relationships for AMACR gene (see all 21
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
trihydroxycholestanoic acid
84.17
3
11160375 (1), 11060359 (1), 11861706 (1)
pristanic acid
80.60
14
11893780 (2), 11060359 (2), 11160375 (1), 10709653 (1) (see all 9 )
phytanic acid
69.21
8
15712232 (1), 18080240 (1), 12917210 (1), 11948235 (1) (see all 6 )
ddp-cr
52.51
2
9196290 (1), 11460706 (1)
acyl-coa
31.46
8
11473573 (2), 11356171 (1), 11992265 (1), 9803880 (1)
oligonucleotide
26.69
4
11126119 (1), 7589466 (1), 17208011 (1), 8360141 (1)
hematoxylin
25.80
5
16681682 (1), 15043314 (1), 15832080 (1), 17069678 (1)
fatty acid
22.98
14
15599942 (2), 11356171 (1), 11956072 (1), 15632186 (1) (see all 11 )
methionine
20.19
2
8011166 (1), 7753485 (1)
sterol
7.28
5
18577977 (1), 9803880 (1)
About this table
Transcripts for AMACR(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_014324 Sigma-Aldrich siRNA and siRNA Panels for AMACR Sigma-Aldrich shRNA for AMACR Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_014324 NM_203382
REFSEQ mRNAs for AMACR gene (2 alternative transcripts): NM_014324.4 NM_203382.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_014324 NM_203382
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_014324                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_014324                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_014324  
Additional cDNA sequence: AF047020.1 AF158378.1 AJ130733.1 AK000912.1 AK022765.1 AK222831.1 AK225749.1 AK292988.1 AY330488.1 AY330489.1 AY935981.1 BC009471.1 BT007193.1 CR615811.1 CR616479.1 CR618063.1 CR625004.1 EF560721.1 FJ498906.1 FJ498907.1 FJ498908.1
9 DOTS entries : DT.309182 DT.92449921 DT.101973657 DT.92449924 DT.97770152 DT.92449923 DT.308935 DT.455566 DT.92009684
24/212 AceView cDNA sequences (see all 212
):BU071196 AI559314 AI215841 AW293739 BF196011 AW473991 NM_203382 CR615811 BQ009670 NM_014324 BF858148 AI468850 AI521218 AI369058 AI538685 AW338481 AA534857 AW140056 CR625004 BM987815 AA888589 BE670233 AL119905 BF858182
highest scoring ESTs for AMACR :AJ130733 AF047020 AF158378 AK000912 AK022765 AL545355 AL558977 AL710886 AU098922 AU117376
Unigene Cluster for AMACR: Alpha-methylacyl-CoA racemase Hs.508343 [show with all ESTs ] Unigene Representative Sequence: CR616479 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for AMACR (see all 8
) ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b SP1 :                         -   -   -   -             SP2 :                         -   -   -   -             SP3 :                                           SP4 :                         -                   SP5 :                   -       -   -   -   -            
About this scheme ECgene alternative splicing isoforms for AMACR 8 Ensembl transcripts including schematic representations : ENST00000382056
ENST00000382065
ENST00000382079
ENST00000231338
ENST00000382068
ENST00000382072
ENST00000335606
ENST00000382085
Expression for AMACR
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AMACR expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AMACR 1 / 2 / 3
11 probe-sets matching AMACR gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.508343 Expression variation in blood from EXPOLDB for AMACR
Orthologs for AMACR
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AMACR gene from 5/15 species (see all 15
)
About this table Species with no ortholog for AMACR ENSEMBL Gene Tree for AMACR Paralogs for AMACR (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AMACR gene C7orf10 2
SNPs/Variants for AMACR (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AMACR (up to first 250kb)
Disorders & Mutations for AMACR
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604489 UniProtKB/Swiss-Prot: AMACR_HUMAN, Q9UHK6
Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD)[MIM:604489]. AMACRD results in elevated plasma concentrations of pristanic acid C27-bile-acidintermediates. It can be associated with polyneuropathy, retinitis pigmentosa, epilepsy Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4)[MIM:214950]; also known as cholestasis, intrahepatic, with defective conversion oftrihydroxycoprostanic acid to cholic acid or trihydroxycoprostanic acid in bile. Clinical featuresinclude neonatal jaundice, intrahepatic cholestasis, bile duct deficiency and absence of cholicacid from bile
10/64 Novoseek disease relationships for AMACR gene (see all 64
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
prostatic intraepithelial neoplasia
78.47
24
18343427 (6), 15602744 (2), 11926890 (1), 15297968 (1) (see all 13 )
prostatic adenocarcinoma
70.92
46
16938524 (4), 15330799 (4), 12893336 (3), 15743746 (3) (see all 21 )
prostate cancer
70.54
300
15941951 (10), 15173267 (8), 11926890 (8), 11956072 (7) (see all 85 )
prostate carcinoma
65.46
40
15743746 (3), 17134736 (3), 17527076 (3), 16932031 (3) (see all 23 )
carcinoma spindle cell
51.06
2
16330937 (2)
adenocarcinoma
48.58
46
15958853 (5), 15725808 (3), 14739905 (3), 17550379 (2) (see all 23 )
oncocytoma
47.58
6
14707866 (1), 15858144 (1), 16166433 (1), 18036175 (1)
zellweger syndrome
47.45
4
11160375 (1), 18577977 (1)
refsum disease
46.10
2
17956237 (1)
carcinoma
45.19
34
15941950 (5), 17550379 (3), 17652945 (3), 17008281 (3) (see all 19 )
About this table Genatlas disease: AMACR sensory motor neuropathy adult onset may be associated with a retinitis pigmentosa,associated withelevated plasma concentrations of pristanic acid and C27-bile-acid intermediates Human Gene Mutation Database : AMACR Genetic Association Database: AMACR Human Genome Epidemiology Navigator: AMACR (6 documents)
Medical News for AMACR (Possibly Related Articles in
Doctor's Guide )
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Publications for AMACR (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/301 PubMed articles for AMACR gene (see all 301
): Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. (PubMed id 10655068) 1, 3, 4 Ferdinandusse S....Wanders R.J.A. (2000) Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk. (PubMed id 12438241) 3, 6 Zheng S.L....Xu J. (2002) Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans. (PubMed id 11060344) 3, 4 Amery L.... Van Veldhoven P.P. (2000) Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases. (PubMed id 9307041) 2, 3 Schmitz W....Conzelmann E. (1997) Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. (PubMed id 7649182) 3, 4 Schmitz W.... Conzelmann E. (1995) Deletion hotspots in AMACR promoter CpG island are cis-regulatory elements controlling the gene expression in the colon. (PubMed id 19148275) 1, 3 Zhang X....Ho S.M. (2009) alpha-Methylacyl coenzyme A racemase as a tissue biomarker for prostate cancer. (PubMed id 11926890) 1, 3 Rubin M.A....Chinnaiyan A.M. (2002) alpha-Methylacyl-CoA racemase: expression levels of this novel cancer biomarker depend on tumor differentiation. (PubMed id 12213712) 1, 3 Kuefer R....Rubin M.A. (2002) The prostate-specific G-protein coupled receptors PSGR and PSGR2 are prostate cancer biomarkers that are complementary to alpha-methylacyl-CoA racemase. (PubMed id 16491480) 1, 3 Wang J....Ittmann M. (2006) Decreased alpha-methylacyl CoA racemase expression in localized prostate cancer is associated with an increased rate of biochemical recurrence and cancer-specific death. (PubMed id 15941951) 1, 3 Rubin M.A....Johansson J.E. (2005)
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Genome Databases showing AMACR
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AMACR
(According to HUGE )
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Specialized Databases showing AMACR (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for AMACR (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Antibodies & Assays for AMACR  
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009