Amacr alpha-methylacyl-CoA racemase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amacrprovided by MGI
Official Full Name: alpha-methylacyl-CoA racemaseprovided by MGI
Primary source: MGI:MGI:1098273
See related: Ensembl:ENSMUSG00000022244 AllianceGenome:MGI:1098273
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Macr1
Summary: Predicted to enable alpha-methylacyl-CoA racemase activity and signaling receptor binding activity. Predicted to be involved in bile acid biosynthetic process. Predicted to act upstream of or within isoprenoid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cranium; genitourinary system; liver; and respiratory system. Used to study alpha-methylacyl-CoA racemase deficiency. Human ortholog(s) of this gene implicated in alpha-methylacyl-CoA racemase deficiency; congenital bile acid synthesis defect 4; and urinary bladder cancer. Orthologous to human AMACR (alpha-methylacyl-CoA racemase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver adult (RPKM 25.9), kidney adult (RPKM 22.2) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 A1; 15 5.39 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (10981875..10995693)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (10981756..10996624)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

observed a disease-dependent elevation of AMACR expression in monocytes and T cells from blood, draining lymph nodes and spleen of autoimmune experimental encephalomyelitis mice during preclinical phase; in vitro analysis revealed proliferation of T cells was inhibited in AMACR KO mice, but T-cell polarization was switched toward a pathogenic state
Title: Alpha-methylacyl-CoA racemase deletion has mutually counteracting effects on T-cell responses, associated with unchanged course of EAE.
Phytol causes primary failure in liver leading to death of Amacr-/- mice thus emphasizing the indispensable role of Amacr in detoxification of alpha-methyl-branched fatty acids.
Title: Phytol is lethal for Amacr-deficient mice.
AMACR has a role in the synthesis of bile acids.
Title: Role of AMACR (α-methylacyl-CoA racemase) and MFE-1 (peroxisomal multifunctional enzyme-1) in bile acid synthesis in mice.
Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids.
Title: Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

AI315029 (e-PCR)
- UniSTS:180739

Amacr (e-PCR), detects polymorphism
- UniSTS:546652

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-methylacyl-CoA racemase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-methylacyl-CoA racemase activity	ISO Inferred from Sequence Orthology more info
enables alpha-methylacyl-CoA racemase activity	TAS Traceable Author Statement more info	PubMed
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in bile acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in bile acid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within isoprenoid catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-methylacyl-CoA racemase

Names: 2-arylpropionyl-CoA epimerase; 2-methylacyl-CoA racemase; alpha-methylacyl-Coenzyme A racemase

NP_032563.2

EC 5.1.99.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008537.5 → NP_032563.2 alpha-methylacyl-CoA racemase

See identical proteins and their annotated locations for NP_032563.2

Status: VALIDATED

Source sequence(s)

AC102219

Consensus CDS

CCDS27381.1

UniProtKB/Swiss-Prot

O09174, Q543Q9, Q9DCW6

UniProtKB/TrEMBL

Q3TUS8

Related

ENSMUSP00000066915.6, ENSMUST00000070877.7

Conserved Domains (1) summary

COG1804
Location:3 → 372

CaiB; Crotonobetainyl-CoA:carnitine CoA-transferase CaiB and related acyl-CoA transferases [Lipid transport and metabolism]