ACSM1 acyl-CoA synthetase medium chain family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACSM1provided by HGNC
Official Full Name: acyl-CoA synthetase medium chain family member 1provided by HGNC
Primary source: HGNC:HGNC:18049
See related: Ensembl:ENSG00000166743 MIM:614357; AllianceGenome:HGNC:18049
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BUCS1; MACS1
Summary: Enables CoA-ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in prostate (RPKM 1.3), ovary (RPKM 1.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (20623235..20697680, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (20554185..20628601, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (20634557..20709002, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for Schizophrenia and major depressive disorder in the Han Chinese population.
Title: Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
Invasive apocrine carcinomas correspond to a distinct molecular subtype of breast carcinomas characterized by the expression of 15-prostaglandin dehydrogenase alone or in combination with a novel form of acyl-CoA synthetase medium-chain family member 1.
Title: 15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Single nucleotide polymorphisms(SNP) in exon 8 of A/G polymorphism of MACS1 gene and G/T SNP in intron 3 of SAH gene were associated with plasma levels of plasma HDL cholesterol.
Title: Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association for schizophrenia in the CATIE study: results of stage 1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483073

RH65225 (e-PCR)
- UniSTS:89552

D16S773 (e-PCR)
- UniSTS:149993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CoA-ligase activity	TAS Traceable Author Statement more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables benzoate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables butyrate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables decanoate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty-acyl-CoA synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in benzoate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in butyrate metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cholesterol homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in energy derivation by oxidation of organic compounds	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid oxidation	NAS Non-traceable Author Statement more info	PubMed
involved_in long-chain fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info

General protein information

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Preferred Names: acyl-coenzyme A synthetase ACSM1, mitochondrial

Names: Butyrate CoA ligase; benzoate--CoA ligase; butyrate--CoA ligase 1; butyryl Coenzyme A synthetase 1; butyryl-coenzyme A synthetase 1; lipoate-activating enzyme; medium-chain acyl-CoA synthetase; middle-chain acyl-CoA synthetase 1; xenobiotic/medium-chain fatty acid-CoA ligase HXM-B

NP_001305819.1

EC 6.2.1.2

EC 6.2.1.25

NP_443188.2

EC 6.2.1.2

EC 6.2.1.25

XP_006721079.1

EC 6.2.1.2

EC 6.2.1.25

XP_006721080.1

EC 6.2.1.2

EC 6.2.1.25

XP_006721081.1

EC 6.2.1.2

EC 6.2.1.25

XP_011544031.1

EC 6.2.1.2

EC 6.2.1.25

XP_011544032.1

EC 6.2.1.2

EC 6.2.1.25

XP_011544033.1

EC 6.2.1.2

EC 6.2.1.25

XP_011544034.1

EC 6.2.1.2

EC 6.2.1.25

XP_016878403.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289537.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289538.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289539.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289540.1

EC 6.2.1.2

EC 6.2.1.25

XP_047289541.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235498.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235499.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235500.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235501.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235502.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235503.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235504.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235505.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235506.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235507.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235508.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235509.1

EC 6.2.1.2

EC 6.2.1.25

XP_054235510.1

EC 6.2.1.2

EC 6.2.1.25

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001318890.3 → NP_001305819.1 acyl-coenzyme A synthetase ACSM1, mitochondrial

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC020926, AC141273

Consensus CDS

CCDS10587.1

UniProtKB/Swiss-Prot

Q08AH1, Q08AH2, Q96A20

UniProtKB/TrEMBL

B2RAP4

Related

ENSP00000428047.1, ENST00000520010.6

Conserved Domains (1) summary

cd05928
Location:45 → 574

MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
NM_052956.3 → NP_443188.2 acyl-coenzyme A synthetase ACSM1, mitochondrial

See identical proteins and their annotated locations for NP_443188.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB059429, AC141273, AK092574

Consensus CDS

CCDS10587.1

UniProtKB/Swiss-Prot

Q08AH1, Q08AH2, Q96A20

UniProtKB/TrEMBL

B2RAP4

Related

ENSP00000301956.3, ENST00000307493.8

Conserved Domains (1) summary

cd05928
Location:45 → 574

MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

RNA

NR_134918.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks multiple exons and contains an additional alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC141273, AK092574, BC125177

Related

ENST00000519745.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

20623235..20697680 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545730.4 → XP_011544032.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X7

Conserved Domains (2) summary

COG0365
Location:39 → 417

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:45 → 416

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_006721017.4 → XP_006721080.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X2

UniProtKB/TrEMBL

B2RAP4

Conserved Domains (2) summary

COG0365
Location:39 → 514

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:45 → 513

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_006721016.4 → XP_006721079.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1

UniProtKB/TrEMBL

B2RAP4

Conserved Domains (2) summary

COG0365
Location:39 → 541

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:45 → 540

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_006721018.3 → XP_006721081.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

See identical proteins and their annotated locations for XP_006721081.1

Conserved Domains (2) summary

COG0365
Location:3 → 355

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:1 → 354

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_011545732.3 → XP_011544034.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10

See identical proteins and their annotated locations for XP_011544034.1

Conserved Domains (2) summary

COG0365
Location:3 → 355

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:1 → 354

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_047433585.1 → XP_047289541.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10
XM_011545731.3 → XP_011544033.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X9

Conserved Domains (2) summary

COG0365
Location:7 → 376

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:5 → 375

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_047433582.1 → XP_047289538.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X4
XM_047433584.1 → XP_047289540.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X8
XM_047433583.1 → XP_047289539.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6
XM_047433581.1 → XP_047289537.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X3
XM_017022914.3 → XP_016878403.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X11
XM_011545729.4 → XP_011544031.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X5

Conserved Domains (2) summary

pfam00501
Location:81 → 454

AMP-binding; AMP-binding enzyme

cl17068
Location:45 → 454

AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

XR_007064850.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

20554185..20628601 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379529.1 → XP_054235504.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X7
XM_054379524.1 → XP_054235499.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X2
XM_054379523.1 → XP_054235498.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X1
XM_054379532.1 → XP_054235507.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10
XM_054379534.1 → XP_054235509.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10
XM_054379533.1 → XP_054235508.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X10
XM_054379531.1 → XP_054235506.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X9
XM_054379526.1 → XP_054235501.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X4
XM_054379530.1 → XP_054235505.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X8
XM_054379528.1 → XP_054235503.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X6
XM_054379525.1 → XP_054235500.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X3
XM_054379535.1 → XP_054235510.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X11
XM_054379527.1 → XP_054235502.1 acyl-coenzyme A synthetase ACSM1, mitochondrial isoform X5