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ACAD9 acyl-CoA dehydrogenase family member 9 [ Homo sapiens (human) ]

Gene ID: 28976, updated on 7-Apr-2024

Summary

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Official Symbol
ACAD9provided by HGNC
Official Full Name
acyl-CoA dehydrogenase family member 9provided by HGNC
Primary source
HGNC:HGNC:21497
See related
Ensembl:ENSG00000177646 MIM:611103; AllianceGenome:HGNC:21497
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
NPD002; MC1DN20
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in skin (RPKM 14.5), fat (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ACAD9 in Genome Data Viewer
Location:
3q21.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (128879620..128913114)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131624340..131657836)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128598463..128631957)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128583050-128583876 Neighboring gene IFT122 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:128597333-128598184 and GRCh37_chr3:128598185-128599037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128599038-128599889 Neighboring gene ACAD9 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:128620937-128622136 Neighboring gene cilia and flagella associated protein 92 (putative) Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128651057-128651558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128653559-128654060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128654061-128654560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128682980-128683974 Neighboring gene MPRA-validated peak4825 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:128705779-128706978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128711587-128712348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128734769-128735276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128735847-128736348 Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128752375-128752929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128756987-128757962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:128757963-128758936 Neighboring gene JMJD4 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. Dewulf JP, et al. Mol Genet Metab, 2016 Jul. PMID 27233227
  2. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. Leslie N, et al. Hum Pathol, 2016 Mar. PMID 26826406
  3. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Collet M, et al. Eur J Hum Genet, 2016 Aug. PMID 26669660, Free PMC Article
  4. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Nouws J, et al. Hum Mol Genet, 2014 Mar 1. PMID 24158852
  5. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Haack TB, et al. Nat Genet, 2010 Dec. PMID 21057504

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
    Title: Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
  2. Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency.
    Title: Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
  3. Study identified new mutations in ACAD9 responsible for a wide spectrum of heart diseases in the presence of elevated serum lactate levels.
    Title: Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
  4. ACAD9 mutation is the most frequent cause of cardiac hypertrophy and isolated complex I deficiency.
    Title: High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
  5. Case Report: neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Title: Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
  6. In cells where it is strongly expressed, ACAD9 plays a physiological role in fatty acid oxidation.
    Title: Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
  7. Our results underscore the importance of the ACAD9 protein in complex I assembly and suggest that the enzymatic activity is a rudiment of the duplication event.
    Title: ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
  8. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
    Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  9. Our data support a new function for ACAD9 in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment.
    Title: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
  10. ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles.
    Title: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Acyl-CoA dehydrogenase 9 deficiency
MedGen: C4747517 OMIM: 611126 GeneReviews: Not available
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EBI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23533, MGC14452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables long-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables medium-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in medium-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex I assembly NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in dendrite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
complex I assembly factor ACAD9, mitochondrial
Names
acyl-Coenzyme A dehydrogenase family, member 9
very-long-chain acyl-CoA dehydrogenase VLCAD
NP_001397734.1
NP_054768.2
XP_024309252.1
XP_054202337.1

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

  1. NG_017064.1 RefSeqGene

    Range
    5131..38625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410805.1 → NP_001397734.1  complex I assembly factor ACAD9, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC112484
    Consensus CDS
    CCDS93369.1
    UniProtKB/TrEMBL
    Q9H9W4

  2. NM_014049.5 → NP_054768.2  complex I assembly factor ACAD9, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_054768.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    BC007970, BC013354, DA630022
    Consensus CDS
    CCDS3053.1
    UniProtKB/Swiss-Prot
    D3DNB8, Q8WXX3, Q9H845
    UniProtKB/TrEMBL
    A0A7P0T8U3
    Related
    ENSP00000312618.7, ENST00000308982.12
    Conserved Domains (1) summary
    cd01161
    Location:38 → 445
    VLCAD; Very long chain acyl-CoA dehydrogenase

RNA

  1. NR_033426.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an addition segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297952, BC007970, DA630022
    Related
    ENST00000511227.5

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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    128879620..128913114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453484.2 → XP_024309252.1  complex I assembly factor ACAD9, mitochondrial isoform X1

    UniProtKB/TrEMBL
    Q9H9W4
    Related
    ENSP00000506228.1, ENST00000679715.1
    Conserved Domains (1) summary
    cl09933
    Location:1 → 322
    ACAD; Acyl-CoA dehydrogenase

RNA

  1. XR_427367.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    131624340..131657836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346362.1 → XP_054202337.1  complex I assembly factor ACAD9, mitochondrial isoform X1

RNA

  1. XR_008486706.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H845.1 GenPept UniProtKB/Swiss-Prot:Q9H845

Gene LinkOut

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