• Gene id: 23600

Gene Summary

• Gene Symbol: AMACR   Gene   UCSC   Ensembl
• Aliases: AMACRD, CBAS4, P504S, RACE, RM
• Gene name: alpha-methylacyl-CoA racemase
• Alternate names: alpha-methylacyl-CoA racemase, 2-methylacyl-CoA racemase,
• Gene location: 5p13.2 (34008049: 33986164)     Exons: 5     NC_000005.10
• Gene summary(Entrez): 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-oxid
• OMIM: 604489

Protein Summary

• Protein general information: Q9UHK6  
  • Name: Alpha methylacyl CoA racemase (EC 5.1.99.4) (2 methylacyl CoA racemase)
  • Length: 382  
  • Mass: 42387
• Sequence:

  MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVSRLGRGKRSLVLDLKQPRGAAVLRRLCKRSDV
  LLEPFRRGVMEKLQLGPEILQRENPRLIYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLL
  ADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRT
  ADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPVLTF
  EEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNTPAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIES
  NKVKASL

• Structural information:
  • Interpro: IPR003673  IPR023606  
  • STRING: ENSP00000371517
• Other Databases: GeneCards:  AMACR  Malacards:  AMACR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008111	alpha-methylacyl-CoA racemase activity	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008410	CoA-transferase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0008111	alpha-methylacyl-CoA racemase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0008111	alpha-methylacyl-CoA racemase activity	TAS	molecular function
GO:0008111	alpha-methylacyl-CoA racemase activity	TAS	molecular function
GO:0008111	alpha-methylacyl-CoA racemase activity	TAS	molecular function
GO:0008111	alpha-methylacyl-CoA racemase activity	TAS	molecular function
GO:0008111	alpha-methylacyl-CoA racemase activity	TAS	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006699	bile acid biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0008111	alpha-methylacyl-CoA racemase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0008206	bile acid metabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008111	alpha-methylacyl-CoA racemase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Congenital bile acid synthesis defect	KEGG:H00628
Peroxisomal beta-oxidation enzyme deficiency	KEGG:H00407
Alpha-methylacyl-CoA racemase deficiency	KEGG:H02099
Congenital bile acid synthesis defect	KEGG:H00628
Peroxisomal beta-oxidation enzyme deficiency	KEGG:H00407
Alpha-methylacyl-CoA racemase deficiency	KEGG:H02099
urinary bladder cancer	PMID:18648853
Breast carcinoma	PMID:15941950
renal cell carcinoma	PMID:14707866
prostate carcinoma in situ	PMID:18343427
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881