ACADVL acyl-CoA dehydrogenase very long chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACADVLprovided by HGNC
Official Full Name: acyl-CoA dehydrogenase very long chainprovided by HGNC
Primary source: HGNC:HGNC:92
See related: Ensembl:ENSG00000072778 MIM:609575; AllianceGenome:HGNC:92
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: ACAD6; LCACD; VLCAD
Summary: The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 228.7), duodenum (RPKM 185.5) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17p13.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7217125..7225266)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7118036..7126177)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7120444..7128585)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Title: Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.
Title: Hypermethylation of ACADVL is involved in the high-intensity interval training-associated reduction of cardiac fibrosis in heart failure patients.
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor delta Agonist Improves Cellular Bioenergetics.
Title: Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
Title: Structural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
Title: Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.
Title: VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis.
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.
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
Title: Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
Title: Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Title: One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

Go to the top of the page Help

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
Very long chain acyl-CoA dehydrogenase deficiency MedGen: C3887523 OMIM: 201475 GeneReviews: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D17S1508E (e-PCR)
- UniSTS:151713

SHGC-35547 (e-PCR)
- UniSTS:15298

RH11576 (e-PCR)
- UniSTS:3310

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl-CoA dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables fatty-acyl-CoA binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables long-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
enables very-long-chain fatty acyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables very-long-chain fatty acyl-CoA dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in energy derivation by oxidation of organic compounds	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fatty acid oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cold	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: very long-chain specific acyl-CoA dehydrogenase, mitochondrial

Names: acyl-Coenzyme A dehydrogenase, very long chain

NP_000009.1

EC 1.3.8.9

NP_001029031.1

EC 1.3.8.9

NP_001257376.1

EC 1.3.8.9

NP_001257377.1

EC 1.3.8.9

XP_006721579.2

EC 1.3.8.9

XP_011522131.1

EC 1.3.8.9

XP_011522132.1

EC 1.3.8.9

XP_047291887.1

EC 1.3.8.9

XP_047291888.1

EC 1.3.8.9

XP_054171953.1

EC 1.3.8.9

XP_054171954.1

EC 1.3.8.9

XP_054171955.1

EC 1.3.8.9

XP_054171956.1

EC 1.3.8.9

XP_054171957.1

EC 1.3.8.9

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_007975.1 RefSeqGene

Range

5105..10433

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000018.4 → NP_000009.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_000009.1

Status: REVIEWED

Description

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

Source sequence(s)

BC000399

Consensus CDS

CCDS11090.1

UniProtKB/Swiss-Prot

B4DEB6, F5H2A9, O76056, P49748, Q8WUL0

UniProtKB/TrEMBL

Q53HR2

Related

ENSP00000349297.5, ENST00000356839.10

Conserved Domains (1) summary

cd01161
Location:72 → 481

VLCAD; Very long chain acyl-CoA dehydrogenase
NM_001033859.3 → NP_001029031.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

See identical proteins and their annotated locations for NP_001029031.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

BC020218, BP387474

Consensus CDS

CCDS42249.1

UniProtKB/TrEMBL

Q53HR2

Related

ENSP00000344152.5, ENST00000350303.9

Conserved Domains (2) summary

cd01161
Location:50 → 459

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:80 → 451

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
NM_001270447.2 → NP_001257376.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC120057, AK293549, BC000399, BP387474

Consensus CDS

CCDS58509.1

UniProtKB/TrEMBL

Q53HR2

Related

ENSP00000438689.2, ENST00000543245.6

Conserved Domains (2) summary

cd01161
Location:95 → 504

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:125 → 496

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
NM_001270448.2 → NP_001257377.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 4

See identical proteins and their annotated locations for NP_001257377.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an additional segment in the 5' exon, compared to variant 1. The 5'-most supported initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG, and result in an isoform (4), which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AK056083, BP387474

UniProtKB/TrEMBL

B3KPA6, Q53HR2

Conserved Domains (2) summary

cd01161
Location:1 → 405

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:26 → 397

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

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

7217125..7225266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721516.4 → XP_006721579.2 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

UniProtKB/TrEMBL

Q53HR2

Conserved Domains (2) summary

cd01161
Location:72 → 481

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:102 → 473

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
XM_011523830.3 → XP_011522132.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

UniProtKB/TrEMBL

Q53HR2

Conserved Domains (2) summary

cd01161
Location:72 → 478

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:102 → 473

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
XM_011523829.3 → XP_011522131.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

UniProtKB/TrEMBL

Q53HR2

Conserved Domains (2) summary

cd01161
Location:72 → 478

VLCAD; Very long chain acyl-CoA dehydrogenase

COG1960
Location:102 → 473

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
XM_047435932.1 → XP_047291888.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X5
XM_047435931.1 → XP_047291887.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

RNA

XR_007065296.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

7118036..7126177

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315978.1 → XP_054171953.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1
XM_054315980.1 → XP_054171955.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3
XM_054315979.1 → XP_054171954.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2
XM_054315982.1 → XP_054171957.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X5
XM_054315981.1 → XP_054171956.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4