Acat1 MGI Mouse Gene Detail - MGI:87870 - acetyl-Coenzyme A acetyltransferase 1

Symbol

Acat1
Name

acetyl-Coenzyme A acetyltransferase 1
Synonyms

6330585C21Rik, Acat

Feature Type

protein coding gene
IDs

MGI:87870
NCBI Gene: 110446
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr9:53491822-53521650 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 29.12 cM, cytoband C-D
Mapping Data

9 experiments

SNPs within 2kb

870 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_87870	protein coding gene	Chr9:53491822-53521682 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0034813	protein coding gene	Chr9:52607541-52643339 (-)
A/J	MGP_AJ_G0034794	protein coding gene	Chr9:50953993-50984343 (-)
AKR/J	MGP_AKRJ_G0034722	protein coding gene	Chr9:52054860-52087805 (-)
BALB/cJ	MGP_BALBcJ_G0034786	protein coding gene	Chr9:50702577-50734308 (-)
C3H/HeJ	MGP_C3HHeJ_G0034496	protein coding gene	Chr9:52537444-52567826 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035305	protein coding gene	Chr9:54089522-54122421 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032218	protein coding gene	Chr9:50360343-50390070 (-)
CAST/EiJ	MGP_CASTEiJ_G0033818	protein coding gene	Chr9:52538916-52571857 (-)
CBA/J	MGP_CBAJ_G0034467	protein coding gene	Chr9:55924133-55955945 (-)
DBA/2J	MGP_DBA2J_G0034626	protein coding gene	Chr9:50832645-50862439 (-)
FVB/NJ	MGP_FVBNJ_G0034568	protein coding gene	Chr9:50013008-50043435 (-)
LP/J	MGP_LPJ_G0034708	protein coding gene	Chr9:52911692-52944648 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034611	protein coding gene	Chr9:57514789-57546040 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035327	protein coding gene	Chr9:52062143-52092000 (-)
PWK/PhJ	MGP_PWKPhJ_G0033522	protein coding gene	Chr9:50811222-50840001 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033358	protein coding gene	Chr9:52358914-52391723 (-)
WSB/EiJ	MGP_WSBEiJ_G0033930	protein coding gene	Chr9:52058330-52089619 (-)

Human Ortholog

ACAT1, acetyl-CoA acetyltransferase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ACAT1, acetyl-CoA acetyltransferase 1
Synonyms

ACAT, MAT, T2, THIL
Links

HGNC:93

NCBI Gene ID: 38

neXtProt AC: NX_P24752

UniProt: P24752
Chr Location

11q22.3; chr11:108116695-108147603 (+) GRCh38

MGI Vertebrate Homology

Acat1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ACAT1
Protein SuperFamily

Ac-CoA_Ac_transf
Gene Tree

Acat1

Diseases

2 with human ACAT1 associations

				Human Disease	Mouse Models
				beta-ketothiolase deficiency IDs beta-ketothiolase deficiency DOID:14723 MESH:C535818 OMIM:203750 ORDO:134 UMLS_CUI:C1533628
				carbohydrate metabolic disorder IDs carbohydrate metabolic disorder DOID:2978 DOID:9434 ICD9CM:271.8 MESH:D002239 NCI:C97089 ORDO:79161 UMLS_CUI:C0007001 UMLS_CUI:C0149670

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
10 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

11
Endonuclease-mediated

4
Gene trapped

4
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

27 strains or lines available

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All GO Annotations

44
GO References

10

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

719
Tissues

10
cDNA Data

252
Literature Summary

4

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase acat1

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All Sequences

42
RefSeq

2
UniProt

2
CCDS

CCDS23184.1

Ensembl

ENSMUSG00000032047 (Evidence)
NCBI Gene

110446

			Length	Strain/Species	Flank
genomic	110446	NCBI Gene Model \| MGI Sequence Detail	29829	C57BL/6J	± kb
transcript	NM_144784	RefSeq \| MGI Sequence Detail	3373	ZRU/MplStud
polypeptide	Q8QZT1	UniProt \| EBI \| MGI Sequence Detail	424	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003610 acetyl-CoA acetyltransferase, mitochondrial

(term hierarchy)
EC

2.3.1.9
InterPro Domains

IPR002155 Thiolase

IPR020610 Thiolase, active site

IPR020615 Thiolase, acyl-enzyme intermediate active site

IPR020613 Thiolase, conserved site

IPR020617 Thiolase, C-terminal

IPR016039 Thiolase-like

IPR020616 Thiolase, N-terminal
GlyGen

Q8QZT1 1 site, 1 O-linked glycan (1 site)

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All nucleic 261

Genomic 1

cDNA 255

Primer pair 3

Other 2

Microarray probesets 5

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MGD-MRK-1027, MGD-MRK-1028, MGI:2443107

Summaries

All 72

Developmental Gene Expression 4

Gene Ontology 10

Phenotypes 10
Earliest

J:8321 Leader DP, et al., Isolation and characterization of cDNA clones from mouse skeletal muscle actin mRNA. DNA. 1986 Jun;5(3):235-8
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Acat1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr89608	Chr9:53521629-53521667 (-)	2 bp
Tssr89607	Chr9:53521585-53521628 (-)	43 bp
Tssr89606	Chr9:53506020-53506040 (-)	15,620 bp
Tssr89605	Chr9:53503380-53503397 (-)	18,261 bp
Tssr89604	Chr9:53503324-53503336 (-)	18,320 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24