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

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
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

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

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 5.39 cM, cytoband B1
Mapping Data

2 experiments

SNPs within 2kb

177 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098273	protein coding gene	Chr15:10981756-10996626 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0021727	protein coding gene	Chr15:8135796-8166064 (+)
A/J	MGP_AJ_G0021687	protein coding gene	Chr15:7908315-7923267 (+)
AKR/J	MGP_AKRJ_G0021665	protein coding gene	Chr15:8098968-8120032 (+)
BALB/cJ	MGP_BALBcJ_G0021694	protein coding gene	Chr15:7811912-7827452 (+)
C3H/HeJ	MGP_C3HHeJ_G0021470	protein coding gene	Chr15:8055552-8075686 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022133	protein coding gene	Chr15:8455013-8473058 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019670	protein coding gene	Chr15:7381481-7396186 (+)
CAST/EiJ	MGP_CASTEiJ_G0020986	protein coding gene	Chr15:8113326-8131926 (+)
CBA/J	MGP_CBAJ_G0021439	protein coding gene	Chr15:8654806-8673292 (+)
DBA/2J	MGP_DBA2J_G0021563	protein coding gene	Chr15:7775723-7790316 (+)
FVB/NJ	MGP_FVBNJ_G0021541	protein coding gene	Chr15:7630651-7645317 (+)
LP/J	MGP_LPJ_G0021631	protein coding gene	Chr15:8053988-8070172 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021566	protein coding gene	Chr15:8914765-8931210 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022156	protein coding gene	Chr15:8083479-8099324 (+)
PWK/PhJ	MGP_PWKPhJ_G0020729	protein coding gene	Chr15:7946227-7962795 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020567	protein coding gene	Chr15:8031076-8047917 (+)
WSB/EiJ	MGP_WSBEiJ_G0021042	protein coding gene	Chr15:8065608-8080216 (+)

Human Ortholog

AMACR, alpha-methylacyl-CoA racemase

Vertebrate Orthologs

10

Human Ortholog

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

AMACRD, CBAS4, P504S, RACE, RM
Links

HGNC:451

NCBI Gene ID: 23600

neXtProt AC: NX_Q9UHK6

UniProt: Q9UHK6
Chr Location

5p13.2; chr5:33986986-34008115 (-) GRCh38.p7

HomoloGene

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

IDs

View 1 model

congenital bile acid synthesis defect 4

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
5 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

1
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

18
GO References

7

External Resources

FuncBase

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

49
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
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

36
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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UniProt

3 Sequences
Protein Ontology

PR:000003984 alpha-methylacyl-CoA racemase

(term hierarchy)
EC

5.1.99.4
InterPro Domains

IPR003673 CoA-transferase family III

IPR023606 CoA-transferase family III domain superfamily

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All nucleic 51

Genomic 1

cDNA 49

Primer pair 1

Microarray probesets 3

Summaries

All 36

Developmental Gene Expression 3

Diseases 1

Gene Ontology 7

Phenotypes 5
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:246089 Tafferner N, et al., Alpha-methylacyl-CoA racemase deletion has mutually counteracting effects on T-cell responses, associated with unchanged course of EAE. Eur J Immunol. 2016 Mar;46(3):570-81

TSS for Amacr:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr130700	Chr15:10981747-10981765 (+)	0 bp
Tssr130701	Chr15:10981780-10981805 (+)	37 bp

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