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

Summary

Official Symbol: ACADLprovided by HGNC
Official Full Name: acyl-CoA dehydrogenase long chainprovided by HGNC
Primary source: HGNC:HGNC:88
See related: Ensembl:ENSG00000115361 MIM:609576; AllianceGenome:HGNC:88
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: LCAD; ACAD4
Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
Expression: Broad expression in thyroid (RPKM 10.1), fat (RPKM 9.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q34

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (210187923..210225447, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (210668601..210706298, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (211052647..211090171, complement)

Chromosome 2 - NC_000002.12 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?

Bulk and single-cell transcriptome profiling reveal extracellular matrix mechanical regulation of lipid metabolism reprograming through YAP/TEAD4/ACADL axis in hepatocellular carcinoma.
Title: Bulk and single-cell transcriptome profiling reveal extracellular matrix mechanical regulation of lipid metabolism reprograming through YAP/TEAD4/ACADL axis in hepatocellular carcinoma.
ACADL suppresses PD-L1 expression to prevent cancer immune evasion by targeting Hippo/YAP signaling in lung adenocarcinoma.
Title: ACADL suppresses PD-L1 expression to prevent cancer immune evasion by targeting Hippo/YAP signaling in lung adenocarcinoma.
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
Title: Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.
The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.
Title: The common K333Q polymorphism in long-chain acyl-CoA dehydrogenase (LCAD) reduces enzyme stability and function.
Long-chain acyl-CoA dehydrogenase can be a source of mitochondrial hydrogen peroxide.
Title: The fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase can be a source of mitochondrial hydrogen peroxide.
the fatty acid oxidation pathway and LCAD are factors contributing to the pathophysiology of pulmonary disease
Title: Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.
Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.
Title: Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.
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.
LCAD is minimally expressed in human skeletal muscle and likely does not play a significant role in long-chain fatty acid oxidation.
Title: Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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
Long chain acyl-CoA dehydrogenase deficiency MedGen: C0220711 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
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

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

RH80284 (e-PCR)
- UniSTS:84576

RH69173 (e-PCR)
- UniSTS:75144

SHGC-36221 (e-PCR)
- UniSTS:77470

D2S1847 (e-PCR)
- UniSTS:68528

ACADL (e-PCR)
- UniSTS:105159

SHGC-58606 (e-PCR)
- UniSTS:94422

ACADL_199 (e-PCR)
- UniSTS:276957

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty-acyl-CoA binding	IEA Inferred from Electronic Annotation more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables long-chain fatty acyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acyl-CoA dehydrogenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables palmitoyl-CoA oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyl-CoA oxidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carnitine catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in carnitine metabolic process, CoA-linked	IBA Inferred from Biological aspect of Ancestor more info
involved_in carnitine metabolic process, CoA-linked	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular lipid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty acid catabolic process	IBA Inferred from Biological aspect of Ancestor 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 positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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

Names: acyl-Coenzyme A dehydrogenase, long chain; long-chain acyl-CoA dehydrogenase

NP_001599.1

EC 1.3.8.8

XP_005246574.1

EC 1.3.8.8

XP_047300059.1

EC 1.3.8.8

XP_054197656.1

EC 1.3.8.8

XP_054197657.1

EC 1.3.8.8

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_008002.1 RefSeqGene

Range

5045..42569

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001608.4 → NP_001599.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial precursor

See identical proteins and their annotated locations for NP_001599.1

Status: REVIEWED

Source sequence(s)

AC006994, BC039063, DC350098

Consensus CDS

CCDS2389.1

UniProtKB/Swiss-Prot

B2R8T3, P28330, Q8IUN8

Related

ENSP00000233710.3, ENST00000233710.4

Conserved Domains (1) summary

cd01160
Location:55 → 427

LCAD; Long chain acyl-CoA dehydrogenase

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

210187923..210225447 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005246517.5 → XP_005246574.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

Conserved Domains (2) summary

cd01160
Location:34 → 406

LCAD; Long chain acyl-CoA dehydrogenase

COG1960
Location:32 → 406

CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
XM_047444103.1 → XP_047300059.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

210668601..210706298 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341681.1 → XP_054197656.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1
XM_054341682.1 → XP_054197657.1 long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2