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-C... See more...

Aliases for ACADL Gene

Aliases for ACADL Gene

  • Acyl-CoA Dehydrogenase Long Chain 2 3 5
  • LCAD 2 3 4
  • Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase, Long Chain 2 3
  • ACAD4 2 3
  • EC 1.3.99.13 51
  • EC 1.3.8.8 4
  • EC 1.3.99 51
  • ACADL 5

External Ids for ACADL Gene

Previous GeneCards Identifiers for ACADL Gene

  • GC02M209328
  • GC02M209777
  • GC02M211016
  • GC02M211255
  • GC02M210878
  • GC02M210760
  • GC02M202897
  • GC02M211052

Summaries for ACADL Gene

Entrez Gene Summary for ACADL Gene

  • 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]

GeneCards Summary for ACADL Gene

ACADL (Acyl-CoA Dehydrogenase Long Chain) is a Protein Coding gene. Diseases associated with ACADL include Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of and Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot Summary for ACADL Gene

  • Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, long-chain specific acyl-CoA dehydrogenase can act on saturated and unsaturated acyl-CoAs with 6 to 24 carbons with a preference for 8 to 18 carbons long primary chains (PubMed:8823175, PubMed:21237683).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACADL Gene

Genomics for ACADL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACADL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J210224 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.4 446 2 PRDM10 ZNF692 ZIC2 SP1 EZH2 ZNF600 ZNF561 SCRT2 ZFX ZBTB20 ACADL lnc-KANSL1L-2 KANSL1L lnc-KANSL1L-1 ENSG00000279317
GH02J209960 Enhancer 0.8 Ensembl ENCODE 9.9 +264.8 264846 2.4 CTCF ZIC2 ZSCAN4 RAD21 TRIM22 MNT YBX1 ZNF444 MAFF SMC3 ACADL piR-53063-120 RPE piR-58929-050 UNC80
GH02J210560 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 4.1 -336.5 -336498 3.5 REST SP1 CEBPA CEBPB YY1 JUND EP300 TBP TCF7L2 HNF4A CPS1 ACADL CPS1-IT1 piR-48553-173
GH02J210188 Enhancer 0.4 Ensembl 10.2 +36.7 36746 1 GATA3 ZNF24 GATA2 piR-38580-175 RPE ACADL KANSL1L ENSG00000279317 lnc-KANSL1L-1
GH02J210198 Enhancer 0.3 Ensembl 12 +26.8 26846 0.8 CTCF ACADL RPE KANSL1L piR-38580-175 lnc-KANSL1L-1 ENSG00000279317
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACADL

Top Transcription factor binding sites by QIAGEN in the ACADL gene promoter:
  • HOXA9
  • HOXA9B
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ACADL Gene

Genomic Locations for ACADL Gene
chr2:210,187,126-210,225,447
(GRCh38/hg38)
Size:
38,322 bases
Orientation:
Minus strand
chr2:211,052,663-211,090,215
(GRCh37/hg19)
Size:
37,553 bases
Orientation:
Minus strand

Genomic View for ACADL Gene

Genes around ACADL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADL Gene

Proteins for ACADL Gene

  • Protein details for ACADL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28330-ACADL_HUMAN
    Recommended name:
    Long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P28330
    Secondary Accessions:
    • B2R8T3
    • Q8IUN8

    Protein attributes for ACADL Gene

    Size:
    430 amino acids
    Molecular mass:
    47656 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.

neXtProt entry for ACADL Gene

Selected DME Specific Peptides for ACADL Gene

P28330:
  • EFMFEETRNYV
  • KGRKLHK
  • TEPGAGSD

Post-translational modifications for ACADL Gene

  • Acetylation at Lys-318 and Lys-322 in proximity of the cofactor-binding sites strongly reduces catalytic activity. These sites are deacetylated by SIRT3.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACADL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADL Gene

Gene Families for ACADL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACADL Gene

GenScript: Design optimal peptide antigens:
  • Long-chain specific acyl-CoA dehydrogenase, mitochondrial (ACADL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28330

UniProtKB/Swiss-Prot:

ACADL_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADL: view

Function for ACADL Gene

Molecular function for ACADL Gene

UniProtKB/Swiss-Prot Function:
Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, long-chain specific acyl-CoA dehydrogenase can act on saturated and unsaturated acyl-CoAs with 6 to 24 carbons with a preference for 8 to 18 carbons long primary chains (PubMed:8823175, PubMed:21237683).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a long-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a long-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:17721, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:83721, ChEBI:CHEBI:83727; EC=1.3.8.8; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8155643, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + octanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48180, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57386, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62242; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8155643, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-decenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48176, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61406, ChEBI:CHEBI:61430; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8155643, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-dodecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47296, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57330, ChEBI:CHEBI:57375, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47316, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57385, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61405; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43448, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61526; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8155643, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + octadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47240, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57394, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:71412; Evidence={ECO:0000269|PubMed:21237683, ECO:0000269|PubMed:8823175};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-eicosenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47236, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57380, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74691; Evidence={ECO:0000269|PubMed:21237683};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-docosenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47228, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:65059, ChEBI:CHEBI:74692; Evidence={ECO:0000269|PubMed:21237683};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + tetracosanoyl-CoA = (2E)-tetracosenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47232, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:65052, ChEBI:CHEBI:74693; Evidence={ECO:0000269|PubMed:21237683};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5E)-tetradecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,5E)-tetradecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:49828, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:131943, ChEBI:CHEBI:131944; Evidence={ECO:0000250|UniProtKB:P15650};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z)-tetradecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,5Z)-tetradecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47448, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:84650, ChEBI:CHEBI:87701; Evidence={ECO:0000250|UniProtKB:P15650};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z)-octadecadienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47300, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57387, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77553; Evidence={ECO:0000250|UniProtKB:P15650};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=29 uM for hexanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=8 uM for octanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=10 uM for decanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=7 uM for dodecanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=10 uM for tetradecanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=14 uM for hexadecanoyl-CoA {ECO:0000269|PubMed:8823175}; KM=8 uM for octadecanoyl-CoA {ECO:0000269|PubMed:8823175};
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,long chain (C10-C18),mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADL Gene

Phenotypes From GWAS Catalog for ACADL Gene

Gene Ontology (GO) - Molecular Function for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003995 acyl-CoA dehydrogenase activity IBA 21873635
GO:0004466 long-chain-acyl-CoA dehydrogenase activity IBA,ISS --
GO:0016401 palmitoyl-CoA oxidase activity IBA,ISS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ACADL: view
genes like me logo Genes that share phenotypes with ACADL: view

Human Phenotype Ontology for ACADL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADL Gene

MGI Knock Outs for ACADL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADL

No data available for Transcription Factor Targets and HOMER Transcription for ACADL Gene

Localization for ACADL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADL Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADL gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
peroxisome 2
nucleus 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with ACADL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACADL Gene

Pathways & Interactions for ACADL Gene

genes like me logo Genes that share pathways with ACADL: view

UniProtKB/Swiss-Prot P28330-ACADL_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0019254 carnitine metabolic process, CoA-linked IBA,ISS --
genes like me logo Genes that share ontologies with ACADL: view

No data available for SIGNOR curated interactions for ACADL Gene

Drugs & Compounds for ACADL Gene

(7) Drugs for ACADL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(35) Additional Compounds for ACADL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACADL: view

Transcripts for ACADL Gene

mRNA/cDNA for ACADL Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADL

Alternative Splicing Database (ASD) splice patterns (SP) for ACADL Gene

No ASD Table

Relevant External Links for ACADL Gene

GeneLoc Exon Structure for
ACADL

Expression for ACADL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACADL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACADL Gene

This gene is overexpressed in Artery - Tibial (x5.8), Pancreas (x4.8), Thyroid (x4.2), Nerve - Tibial (x4.1), and Artery - Aorta (x4.0).

Protein differential expression in normal tissues from HIPED for ACADL Gene

This gene is overexpressed in Liver (13.5), Islet of Langerhans (10.4), Gallbladder (9.8), Kidney (9.3), and Lung (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACADL

SOURCE GeneReport for Unigene cluster for ACADL Gene:

Hs.471277

Evidence on tissue expression from TISSUES for ACADL Gene

  • Liver(4.6)
  • Nervous system(4.3)
  • Intestine(4.3)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with ACADL: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADL Gene

Orthologs for ACADL Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACADL 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACADL 30 31
  • 86.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACADL 30 31
  • 86.74 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACADL 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acadl 30
  • 83.92 (n)
Mouse
(Mus musculus)
Mammalia Acadl 30 17 31
  • 83.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACADL 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACADL 30 31
  • 73.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACADL 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acadl 30
  • 72.47 (n)
Str.8318 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5962 30
Zebrafish
(Danio rerio)
Actinopterygii acadl 30 31
  • 68.6 (n)
OneToOne
zgc55656 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10227 30
Worm
(Caenorhabditis elegans)
Secernentea C37A2.3 32
  • 32 (a)
C02D5.1 32
  • 31 (a)
acdh-6 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2732 31
  • 64 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4861 30
Species where no ortholog for ACADL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACADL Gene

ENSEMBL:
Gene Tree for ACADL (if available)
TreeFam:
Gene Tree for ACADL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADL: view image

Paralogs for ACADL Gene

(7) SIMAP similar genes for ACADL Gene using alignment to 1 proteins:

  • ACADL_HUMAN
genes like me logo Genes that share paralogs with ACADL: view

Variants for ACADL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACADL Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
811587 Uncertain Significance: not specified 210,203,385(-) GGT/G FRAMESHIFT_VARIANT
rs146511220 Likely Benign: not specified 210,205,678(-) C/G MISSENSE_VARIANT
rs148069105 Uncertain Significance: Very long chain acyl-CoA dehydrogenase deficiency 210,203,376(-) A/G SYNONYMOUS_VARIANT
rs149291223 Uncertain Significance: Very long chain acyl-CoA dehydrogenase deficiency 210,188,237(-) A/G THREE_PRIME_UTR_VARIANT
rs150844488 Uncertain Significance: Very long chain acyl-CoA dehydrogenase deficiency 210,205,779(-) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ACADL Gene

Structural Variations from Database of Genomic Variants (DGV) for ACADL Gene

Variant ID Type Subtype PubMed ID
esv3449244 CNV insertion 20981092
nsv1012567 CNV gain 25217958

Variation tolerance for ACADL Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.43; 85.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADL Gene

Human Gene Mutation Database (HGMD)
ACADL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADL Gene

Disorders for ACADL Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACADL Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACADL in MalaCards View complete list of genes associated with diseases

Genatlas disease for ACADL Gene

dicarboxylic aciduria,non ketotic hypoglycemia ,Reye-like syndrome,sudden infant death syndrome

Additional Disease Information for ACADL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACADL: view

No data available for UniProtKB/Swiss-Prot for ACADL Gene

Publications for ACADL Gene

  1. Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. (PMID: 1774065) Indo Y … Tanaka K (Genomics 1991) 2 3 4 23
  2. Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle. (PMID: 20363655) Maher AC … Tarnopolsky MA (Molecular genetics and metabolism 2010) 3 23
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. A genome-wide perspective of genetic variation in human metabolism. (PMID: 20037589) Illig T … Suhre K (Nature genetics 2010) 3 41

Products for ACADL Gene

Sources for ACADL Gene