Amacr MGI Mouse Gene Detail - MGI:1098273 - alpha-methylacyl-CoA racemase

Amacr Gene Detail

Symbol

Amacr
Name

alpha-methylacyl-CoA racemase
Synonyms

2-arylpropionyl-CoA epimerase, Macr1

Feature Type

protein coding gene
IDs

MGI:1098273
NCBI Gene: 17117
Gene Overview

MyGene.info: AMACR

Sequence Map

Chr15:10981756-10996624 bp, + strand
From NCBI annotation of GRCm38

Mouse Genome Browser
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Sequence

14869 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 5.39 cM, cytoband B1
Mapping Data

2 experiments

Human Ortholog

AMACR, alpha-methylacyl-CoA racemase

Vertebrate Orthologs

10

Human Ortholog

AMACR, alpha-methylacyl-CoA racemase
Orthology source: HomoloGene, HGNC
Synonyms

AMACRD, CBAS4, RACE, RM
Links

HGNC:451

NCBI Gene ID: 23600

neXtProt AC: NX_Q9UHK6
Chr Location

5p13; chr5:33986986-34008115 (-) GRCh38.p2

HomoloGene

Vertebrate Homology Class 7410
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: AMACR
Gene Tree

Amacr

Diseases

1 with Amacr mouse models; 2 with human AMACR associations

Human Disease

Mouse Models

Alpha-Methylacyl-Coa Racemase Deficiency; AMACRD OMIM: 614307

View 1 model

Bile Acid Synthesis Defect, Congenital, 4; CBAS4 OMIM: 214950

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
4 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

1
Targeted

1
Incidental Mutations

Mutagenetix , APF

Homozygous null mice display impaired bile acid synthesis and with dietary phytol supplementation develop liver degeneration and induced mortality.

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All GO Annotations

16
GO References

7

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

149
Tissues

114
cDNA Data

48
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase amacr

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Amacr interacts with 189 markers (Mir15a, Mir15b, Mir16-1, ...) View All

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All Sequences

17
RefSeq

4
UniProt

3
CCDS

CCDS27381.1
UniGene

2787

Ensembl

ENSMUSG00000022244 (Evidence)
NCBI Gene

17117

			Length	Strain/Species	Flank
genomic	17117	NCBI Gene Model \| MGI Sequence Detail	14869	C57BL/6J	± kb
transcript	NM_008537	RefSeq \| MGI Sequence Detail	2575	C57BL/6
polypeptide	O09174	UniProt \| EBI \| MGI Sequence Detail	381	Not Applicable

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SNPs within 2kb

177 from dbSNP Build 142

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UniProt

3 Sequences
Protein Ontology

PR:000003984 alpha-methylacyl-CoA racemase
EC

5.1.99.4
InterPro Domains

IPR003673 CoA-transferase family III

IPR023606 CoA-transferase family III domain

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All nucleic 50

Genomic 1

cDNA 48

Primer pair 1

Microarray probesets 3

Summaries

All 33

Developmental Gene Expression 3

Diseases 2

Gene Ontology 7

Phenotypes 4
Earliest

J:43000 Schmitz W, et al., Molecular cloning of cDNA species for rat and mouse liver alpha-methylacyl-CoA racemases. Biochem J. 1997 Sep 15;326(Pt 3):883-9
Latest

J:231352 Selkala EM, et al., Phytol is lethal for Amacr-deficient mice. Biochim Biophys Acta. 2015 Oct;1851(10):1394-405

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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