ACSBG1

protein-coding

acyl-CoA synthetase bubblegum family member 1, the group of Acyl-CoA synthetase family

Gene summary

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]

MANE transcript

NM_015162.5

Inheritance

—

ClinVar variants

U:107B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.39

Max pathogenic AF

—

Genomic locus

chr15:78,167,468-78,245,688

External References & Databases

Ensembl (ENSG00000103740)

Transcript & Mutation Effects

hg38 • Region Span ~78.2 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 ACSBG1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015162.5. 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	2 clinvar	4
missense			105 clinvar	4 clinvar	1 clinvar	110
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	107	5	3	115

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015162.5	RefSeq	NP_055977.3	14	MANE Select
ENST00000258873.9	Ensembl	ENSP00000258873.4	14	MANE Select
NM_001199377.2	RefSeq	NP_001186306.1	14	Standard
ENST00000557935.1	Ensembl	ENSP00000453585.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Adipocytokine signaling pathway - Homo sapiens (human)
Fatty acid degradation - Homo sapiens (human)
Fatty acid biosynthesis - Homo sapiens (human)
PPAR signaling pathway - Homo sapiens (human)
PPAR signaling pathway

Biological Process

very long-chain fatty acid metabolic process
long-chain fatty acid metabolic process
long-chain fatty-acyl-CoA biosynthetic process
myelination
response to glucocorticoid

Molecular Function

long-chain fatty acid-CoA ligase activity
ATP binding
very long-chain fatty acid-CoA ligase activity
decanoate-CoA ligase activity

Cellular Component

cytoplasm
endoplasmic reticulum
cytosol
cytoplasmic vesicle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258873
Coding exons: 14
Length: 78221
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 125748
p: 0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.83	354	465	0.761	0.0000290	4738
Missense (PolyPhen)		113	172.14	0.65645		1801
Synonymous	-1.02	208	190	1.09	0.0000127	1414
Loss of Function	3.42	14	36.2	0.387	0.00000163	404

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00018	0.00017	rare
South Asian	0.00013	0.00013	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids. {ECO:0000269|PubMed:10954726, ECO:0000269|PubMed:12975357}.;

Recessive Scores

pRec: 0.211

Intolerance Scores

LoFtool: 0.554
RVIS EVS: -0.37
RVIS percentile EVS: 28.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.230

Gene Damage Prediction

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