Gene/Proteome Database (LMPD)

LMPD ID
LMP004774
Gene ID
23600
Species
Homo sapiens (Human)
Gene Name
alpha-methylacyl-CoA racemase
Gene Symbol
AMACR
Synonyms
AMACRD; CBAS4; RACE; RM
Alternate Names
alpha-methylacyl-CoA racemase; 2-methylacyl-CoA racemase
Chromosome
5
Map Location
5p13
EC Number
5.1.99.4
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]
Orthologs
View orthologs and multiple alignments for AMACR

Proteins

alpha-methylacyl-CoA racemase isoform 1
Refseq ID NP_055139
Protein GI 42794625
UniProt ID Q9UHK6
mRNA ID NM_014324
Length 382
RefSeq Status REVIEWED
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTFEEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIESNKVKASL
alpha-methylacyl-CoA racemase isoform 2
Refseq ID NP_976316
Protein GI 42822893
UniProt ID Q9UHK6
mRNA ID NM_203382
Length 198
RefSeq Status REVIEWED
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGGRNSIFKFFSVENSEIESVGSTSRTEHVGWWSTFLYDLQDSRWGIHGCWSNRTPVLRAADQRTWTKV
alpha-methylacyl-CoA racemase isoform 3
Refseq ID NP_001161067
Protein GI 266456254
UniProt ID Q9UHK6
mRNA ID NM_001167595
Length 394
RefSeq Status REVIEWED
MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTFEEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIESNKAGSKFWILYPTHSNIQK

Gene Information

Entrez Gene ID
23600
Gene Name
alpha-methylacyl-CoA racemase
Gene Symbol
AMACR
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProtKB C cytoplasm
GO:0005739 IDA:UniProtKB C mitochondrion
GO:0005782 TAS:Reactome C peroxisomal matrix
GO:0005777 IDA:UniProtKB C peroxisome
GO:0008111 IDA:UniProtKB F alpha-methylacyl-CoA racemase activity
GO:0005102 IPI:UniProtKB F receptor binding
GO:0006699 TAS:Reactome P bile acid biosynthetic process
GO:0008206 IDA:UniProtKB P bile acid metabolic process
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0033540 TAS:Reactome P fatty acid beta-oxidation using acyl-CoA oxidase
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04146 Peroxisome
hsa00120 Primary bile acid biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11053 Synthesis of bile acids and bile salts via 24-hydroxycholesterol

Domain Information

InterPro Annotations

Accession Description
IPR003673 CoA-transferase family III
IPR023606 CoA-transferase family III domain

UniProt Annotations

Entry Information

Gene Name
alpha-methylacyl-CoA racemase
Protein Entry
AMACR_HUMAN
UniProt ID
Q9UHK6
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHK6-1; Sequence=Displayed; Name=2; Synonyms=IBLi; IsoId=Q9UHK6-2; Sequence=VSP_037321, VSP_037326; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9UHK6-4; Sequence=VSP_037323, VSP_037324; Name=4; IsoId=Q9UHK6-5; Sequence=VSP_044875; Note=Expression is elevated in prostate cancer.;
Catalytic Activity (2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.
Disease Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM
Disease Congenital bile acid synthesis defect 4 (CBAS4) [MIM
Function 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.
Pathway Lipid metabolism; bile acid biosynthesis.
Pathway Lipid metabolism; fatty acid metabolism.
Sequence Caution Sequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence= ; Sequence=ACL67854.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence= ; Sequence=CAB44062.1; Type=Frameshift; Positions=62, 65, 114; Evidence= ;
Similarity Belongs to the CaiB/BaiF CoA-transferase family.
Subcellular Location Peroxisome . Mitochondrion .

Identical and Related Proteins

Unique RefSeq proteins for LMP004774 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
42794625 RefSeq NP_055139 382 alpha-methylacyl-CoA racemase isoform 1
42822893 RefSeq NP_976316 198 alpha-methylacyl-CoA racemase isoform 2
266456254 RefSeq NP_001161067 394 alpha-methylacyl-CoA racemase isoform 3

Identical Sequences to LMP004774 proteins

Reference Database Accession Length Protein Name
GI:42822893 EMBL CAD48646.1 198 unnamed protein product [Homo sapiens]
GI:42794625 EMBL CEF39433.1 382 unnamed protein product [Homo sapiens]
GI:42794625 GenBank AGN60944.1 382 Sequence 11 from patent US 8455615
GI:42794625 GenBank AHD80467.1 382 Sequence 32813 from patent US 8586006
GI:42822893 GenBank AHD80468.1 198 Sequence 32814 from patent US 8586006
GI:42794625 SwissProt Q9UHK6.2 382 RecName: Full=Alpha-methylacyl-CoA racemase; AltName: Full=2-methylacyl-CoA racemase [Homo sapiens]

Related Sequences to LMP004774 proteins

Reference Database Accession Length Protein Name
GI:42794625 DBBJ BAD96551.1 382 alpha-methylacyl-CoA racemase isoform 1 variant, partial [Homo sapiens]
GI:42794625 EMBL CAD48643.1 382 unnamed protein product, partial [Homo sapiens]
GI:42794625 EMBL CAD48644.1 382 unnamed protein product [Homo sapiens]
GI:266456254 EMBL CAD48645.1 394 unnamed protein product [Homo sapiens]
GI:42794625 EMBL CAD48647.1 382 unnamed protein product [Homo sapiens]
GI:42822893 EMBL CAL37503.1 198 hypothetical protein, partial [synthetic construct]
GI:266456254 EMBL CEF39433.1 382 unnamed protein product [Homo sapiens]
GI:42794625 GenBank AAF22610.1 382 alpha-methylacyl-CoA racemase [Homo sapiens]
GI:42822893 GenBank AAH09471.1 198 Alpha-methylacyl-CoA racemase [Homo sapiens]
GI:42822893 GenBank AAP35857.1 198 alpha-methylacyl-CoA racemase [Homo sapiens]
GI:266456254 GenBank AAY16192.1 394 alpha-methyl-acyl-CoA racemase [Homo sapiens]
GI:42822893 GenBank EAX10816.1 198 alpha-methylacyl-CoA racemase, isoform CRA_b [Homo sapiens]
GI:42822893 GenBank EAX10817.1 198 alpha-methylacyl-CoA racemase, isoform CRA_b [Homo sapiens]
GI:42794625 GenBank ABQ59031.1 382 AMACR protein [Homo sapiens]
GI:42822893 GenBank AIC56082.1 198 AMACR, partial [synthetic construct]
GI:266456254 RefSeq XP_003818548.1 394 PREDICTED: alpha-methylacyl-CoA racemase isoform X1 [Pan paniscus]
GI:266456254 RefSeq XP_009447602.1 394 PREDICTED: alpha-methylacyl-CoA racemase isoform X1 [Pan troglodytes]
GI:266456254 SwissProt Q9UHK6.2 382 RecName: Full=Alpha-methylacyl-CoA racemase; AltName: Full=2-methylacyl-CoA racemase [Homo sapiens]