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
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
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Genomic context

Location:: 17p13.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (7217125..7225266)
105.20201022	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

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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?

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.
homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy
Title: Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
Sequencing of the ACADVL gene revealed that all individuals with activities below 24% were true Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) patients, individuals with residual activities between 24 and 27% carried either one or two mutations. Twenty new mutations could be identified and functionally classified based on their effect on enzyme function.
Title: The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
The authors provide novel insights into the cellular energy household of cells from HADHA/ACADVL patients and demonstrate for the first time a connection between fatty acid metabolism, mitochondrial morphology and reactive oxygen species in patients with these rare genetic disorders.
Title: Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
VLCADD is relatively rare in southern China, for which late-onset form is common
Title: [Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
There are currently no biochemical markers for prediction of disease severity and for the need for treatment in VLCAD deficiency. Mutation analysis may offer predictive value but this may not be robust enough for a large proportion of those mutations that have not been previously reported in clinically affected patients.
Title: VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1-18year.
Title: Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

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

D17S1508E (e-PCR)
- UniSTS:151713

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

RH11576 (e-PCR)
- UniSTS:3310

Homology

Homologs of the ACADVL gene: The ACADVL gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, and C.elegans.
Orthologs from Annotation Pipeline: 346 organisms have orthologs with human gene ACADVL
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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-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-acyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables very-long-chain-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 extrinsic component of mitochondrial inner membrane	IMP Inferred from Mutant Phenotype more info	PubMed
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
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor 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

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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_024306509.1

EC 1.3.8.9

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_007975.1 RefSeqGene

Range

5105..10433

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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

P49748

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/Swiss-Prot

P49748

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/Swiss-Prot

P49748

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

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

7217125..7225266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721516.3 → XP_006721579.2 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

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_024450741.1 → XP_024306509.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

Conserved Domains (1) summary

cd01161
Location:72 → 478

VLCAD; Very long chain acyl-CoA dehydrogenase
XM_011523830.2 → XP_011522132.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X4

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_011523829.2 → XP_011522131.1 very long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X3

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]