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

Gene ID: 33, updated on 1-Jun-2020

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
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

Genomic context

See ACADL in Genome Data Viewer
Location:
2q34
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (210187923..210225447, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (211052632..211090215, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene uncharacterized LOC112268429 Neighboring gene uncharacterized LOC107985977 Neighboring gene LANCL1 antisense RNA 1 Neighboring gene myosin light chain 1 Neighboring gene LanC like 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
NHGRI GWA Catalog
A genome-wide perspective of genetic variation in human metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94052

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty-acyl-CoA binding IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
long-chain-acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain-acyl-CoA dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
palmitoyl-CoA oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
palmitoyl-CoA oxidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
carnitine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
carnitine metabolic process, CoA-linked IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine metabolic process, CoA-linked ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular lipid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS
Inferred from Sequence or Structural Similarity
more info
 
long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
long-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-Coenzyme A dehydrogenase, long chain
NP_001599.1
XP_005246574.1
XP_016859444.1

NCBI Reference Sequences (RefSeq)

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_008002.1 RefSeqGene

    Range
    5045..42569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001608.4NP_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
    P28330
    Related
    ENSP00000233710.3, ENST00000233710.4
    Conserved Domains (1) summary
    cd01160
    Location:55427
    LCAD; Long chain acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    210187923..210225447 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246517.4XP_005246574.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd01160
    Location:34406
    LCAD; Long chain acyl-CoA dehydrogenase
    COG1960
    Location:32406
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  2. XM_017003955.1XP_016859444.1  long-chain specific acyl-CoA dehydrogenase, mitochondrial isoform X2

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