ACOT7

protein-coding

acyl-CoA thioesterase 7, the group of Acyl-CoA thioesterases

Gene summary

This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]

MANE transcript

NM_007274.4

Inheritance

—

ClinVar variants

U:41B:6

Top phenotype

ACOT7-related disorder

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr1:6,264,269-6,393,767

External References & Databases

Ensembl (ENSG00000097021)

Transcript & Mutation Effects

hg38 • Region Span ~129.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ACOT7 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 50

ACOT7-related disorderTotal: 6

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007274.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar	3 clinvar	5
missense			39 clinvar	2 clinvar		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	41	3	3	47

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007274.4	RefSeq	NP_009205.3	9	MANE Select
ENST00000361521.9	Ensembl	ENSP00000354615.4	9	MANE Select
NM_181864.3	RefSeq	NP_863654.1	9	Standard
NM_181865.3	RefSeq	NP_863655.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Biosynthesis of unsaturated fatty acids - Homo sapiens (human)
Fatty acid elongation - Homo sapiens (human)
stearate biosynthesis
Metabolism of lipids
Mitochondrial Fatty Acid Beta-Oxidation

Biological Process

acyl-CoA metabolic process
coenzyme A biosynthetic process
medium-chain fatty-acyl-CoA catabolic process
long-chain fatty-acyl-CoA catabolic process
medium-chain fatty acid biosynthetic process

Molecular Function

fatty-acyl-CoA binding
protein binding
palmitoyl-CoA hydrolase activity
long-chain fatty acyl-CoA binding
protein homodimerization activity

Cellular Component

nucleoplasm
mitochondrion
cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377855
Coding exons: 9
Length: 130123
Individuals with no LoFs: 125669
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125671
p: 0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.98	176	267	0.659	0.0000180	2471
Missense (PolyPhen)		49	92.731	0.52841		823
Synonymous	-1.27	131	114	1.15	0.00000844	768
Loss of Function	3.26	3	17.9	0.168	8.43e-7	197

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl- CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active towards fatty acyl-CoAs with chain-lengths of C8-C18. Has a maximal activity toward palmitoyl-CoA.;

Recessive Scores

pRec: 0.745

Intolerance Scores

LoFtool: 0.548
RVIS EVS: -0.76
RVIS percentile EVS: 13.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.415

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium