ACADS acyl-CoA dehydrogenase short chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACADSprovided by HGNC
Official Full Name: acyl-CoA dehydrogenase short chainprovided by HGNC
Primary source: HGNC:HGNC:90
See related: Ensembl:ENSG00000122971 MIM:606885; AllianceGenome:HGNC:90
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCAD; ACAD3
Summary: This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
Expression: Broad expression in duodenum (RPKM 34.4), fat (RPKM 33.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (120725826..120740008)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120714964..120729131)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (121163629..121177811)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
Title: Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
Title: Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Title: Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
Title: Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.
Title: The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.
ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Title: ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Study discovered a high occurrence of two rare pathogenic variants-the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively especially in the Roma ethnic group.
Title: An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
a link between ACADS susceptibility variants and abnormal beta-oxidation consistent with known altered kinetics of these variants
Title: Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Korean patients with Short-chain acyl-CoA dehydrogenase deficiency showed heterogenous clinical features and ACADS genotype.
Title: Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
Thirteen proteins had significant alteration in protein levels in patients carrying variation c.319C>T in ACADS compared to controls and they belonged to various pathways, such as the antioxidant system and amino acid metabolism.
Title: Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Associated conditions

Description	Tests
Deficiency of butyryl-CoA dehydrogenase MedGen: C0342783 OMIM: 201470 GeneReviews: Short-Chain Acyl-CoA Dehydrogenase Deficiency	Compare labs

EBI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables acyl-CoA dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables acyl-CoA dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables butyryl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables butyryl-CoA dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in butyrate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation	IC Inferred by Curator more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: short-chain specific acyl-CoA dehydrogenase, mitochondrial

Names: acyl-CoA dehydrogenase, C-2 to C-3 short chain; acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain; butyryl-CoA dehydrogenase; epididymis secretory sperm binding protein; mitochondrial short-chain specific acyl-CoA dehydrogenase; unsaturated acyl-CoA reductase

NP_000008.1

EC 1.3.8.1

NP_001289483.1

EC 1.3.8.1

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.

Genomic

NG_007991.1 RefSeqGene

Range

5059..19241

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000017.4 → NP_000008.1 short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_000008.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC025963, DB505221, M26393

Consensus CDS

CCDS9207.1

UniProtKB/Swiss-Prot

P16219, P78331

UniProtKB/TrEMBL

D4QEZ8, E5KSD5, E5KSE7

Related

ENSP00000242592.4, ENST00000242592.9

Conserved Domains (2) summary

cd01158
Location:36 → 408

SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases

COG1960
Location:33 → 412

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
NM_001302554.2 → NP_001289483.1 short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon and contains an alternate exon in the 3' coding region but maintains the reading frame. It encodes isoform 2 which is shorter compared to isoform 1.

Source sequence(s)

AC069234, AK300645, BC025963, DB505221, M26393

Consensus CDS

CCDS76610.1

UniProtKB/TrEMBL

B4DUH1, E9PE82

Related

ENSP00000401045.2, ENST00000411593.2

Conserved Domains (2) summary

cd01158
Location:36 → 404

SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases

COG1960
Location:33 → 408

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]