Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Long-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.

Cofactori

Pathwayi: mitochondrial fatty acid beta-oxidation

This protein is involved in the pathway mitochondrial fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway mitochondrial fatty acid beta-oxidation and in Lipid metabolism.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS03876-MONOMER.
ZFISH:HS03876-MONOMER.
ReactomeiR-HSA-77285. Beta oxidation of myristoyl-CoA to lauroyl-CoA.
R-HSA-77288. mitochondrial fatty acid beta-oxidation of unsaturated fatty acids.
R-HSA-77310. Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA.
SABIO-RKP28330.
UniPathwayiUPA00660.

Chemistry databases

SwissLipidsiSLP:000001327.

Names & Taxonomyi

Protein namesi
Recommended name:
Long-chain specific acyl-CoA dehydrogenase, mitochondrial (EC:1.3.8.8)
Short name:
LCAD
Gene namesi
Name:ACADL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:88. ACADL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.
See also OMIM:201475

Organism-specific databases

DisGeNETi33.
MalaCardsiACADL.
MIMi201475. phenotype.
OpenTargetsiENSG00000115361.
Orphaneti99900. Long chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24424.

Polymorphism and mutation databases

BioMutaiACADL.
DMDMi223590148.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 30MitochondrionAdd BLAST30
ChainiPRO_000000050931 – 430Long-chain specific acyl-CoA dehydrogenase, mitochondrialAdd BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei42N6-acetyllysineBy similarity1
Modified residuei54PhosphoserineBy similarity1
Modified residuei66N6-acetyllysine; alternateBy similarity1
Modified residuei66N6-succinyllysine; alternateBy similarity1
Modified residuei81N6-acetyllysine; alternateBy similarity1
Modified residuei81N6-succinyllysine; alternateBy similarity1
Modified residuei92N6-acetyllysineBy similarity1
Modified residuei95N6-acetyllysineBy similarity1
Modified residuei165N6-succinyllysineBy similarity1
Modified residuei240N6-succinyllysineBy similarity1
Modified residuei254N6-acetyllysine; alternateBy similarity1
Modified residuei254N6-succinyllysine; alternateBy similarity1
Modified residuei279N6-acetyllysine; alternateBy similarity1
Modified residuei279N6-succinyllysine; alternateBy similarity1
Modified residuei318N6-acetyllysineBy similarity1
Modified residuei322N6-acetyllysine; alternateBy similarity1
Modified residuei322N6-succinyllysine; alternateBy similarity1
Modified residuei358N6-acetyllysineBy similarity1
Modified residuei362PhosphoserineBy similarity1

Post-translational modificationi

Acetylation at Lys-318 and Lys-322 in proximity of the cofactor-binding sites strongly reduces catalytic activity. These sites are deacetylated by SIRT3 (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP28330.
MaxQBiP28330.
PaxDbiP28330.
PeptideAtlasiP28330.
PRIDEiP28330.

PTM databases

iPTMnetiP28330.
PhosphoSitePlusiP28330.
SwissPalmiP28330.

Expressioni

Gene expression databases

BgeeiENSG00000115361.
CleanExiHS_ACADL.
GenevisibleiP28330. HS.

Organism-specific databases

HPAiHPA010611.
HPA011990.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi106551. 5 interactors.
IntActiP28330. 1 interactor.
STRINGi9606.ENSP00000233710.

Structurei

3D structure databases

ProteinModelPortaliP28330.
SMRiP28330.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the acyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0141. Eukaryota.
ENOG410XNMY. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131659.
HOVERGENiHBG104903.
InParanoidiP28330.
KOiK00255.
OMAiKAGEAGM.
OrthoDBiEOG091G092G.
PhylomeDBiP28330.
TreeFamiTF105054.

Family and domain databases

Gene3Di1.10.540.10. 1 hit.
InterProiIPR006089. Acyl-CoA_DH_CS.
IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
IPR009075. AcylCo_DH/oxidase_C.
IPR013786. AcylCoA_DH/ox_N.
IPR009100. AcylCoA_DH/oxidase_NM_dom.
[Graphical view]
PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
PF02770. Acyl-CoA_dh_M. 1 hit.
PF02771. Acyl-CoA_dh_N. 1 hit.
[Graphical view]
SUPFAMiSSF47203. SSF47203. 1 hit.
SSF56645. SSF56645. 1 hit.
PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
PS00073. ACYL_COA_DH_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P28330-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAARLLRGSL RVLGGHRAPR QLPAARCSHS GGEERLETPS AKKLTDIGIR
60 70 80 90 100
RIFSPEHDIF RKSVRKFFQE EVIPHHSEWE KAGEVSREVW EKAGKQGLLG
110 120 130 140 150
VNIAEHLGGI GGDLYSAAIV WEEQAYSNCS GPGFSIHSGI VMSYITNHGS
160 170 180 190 200
EEQIKHFIPQ MTAGKCIGAI AMTEPGAGSD LQGIKTNAKK DGSDWILNGS
210 220 230 240 250
KVFISNGSLS DVVIVVAVTN HEAPSPAHGI SLFLVENGMK GFIKGRKLHK
260 270 280 290 300
MGLKAQDTAE LFFEDIRLPA SALLGEENKG FYYIMKELPQ ERLLIADVAI
310 320 330 340 350
SASEFMFEET RNYVKQRKAF GKTVAHLQTV QHKLAELKTH ICVTRAFVDN
360 370 380 390 400
CLQLHEAKRL DSATACMAKY WASELQNSVA YDCVQLHGGW GYMWEYPIAK
410 420 430
AYVDARVQPI YGGTNEIMKE LIAREIVFDK
Length:430
Mass (Da):47,656
Last modified:February 10, 2009 - v2
Checksum:i72F9803685406DF9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000328303S → T.1 PublicationCorresponds to variant rs1801204dbSNPEnsembl.1
Natural variantiVAR_000329333K → Q.2 PublicationsCorresponds to variant rs2286963dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74096 mRNA. Translation: AAA51565.1.
AK313498 mRNA. Translation: BAG36280.1.
AC006994 Genomic DNA. Translation: AAY14881.1.
CH471063 Genomic DNA. Translation: EAW70481.1.
BC039063 mRNA. Translation: AAH39063.1.
BC064549 mRNA. Translation: AAH64549.1.
CCDSiCCDS2389.1.
PIRiA40559.
RefSeqiNP_001599.1. NM_001608.3.
UniGeneiHs.471277.

Genome annotation databases

EnsembliENST00000233710; ENSP00000233710; ENSG00000115361.
GeneIDi33.
KEGGihsa:33.
UCSCiuc002vdz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M74096 mRNA. Translation: AAA51565.1.
AK313498 mRNA. Translation: BAG36280.1.
AC006994 Genomic DNA. Translation: AAY14881.1.
CH471063 Genomic DNA. Translation: EAW70481.1.
BC039063 mRNA. Translation: AAH39063.1.
BC064549 mRNA. Translation: AAH64549.1.
CCDSiCCDS2389.1.
PIRiA40559.
RefSeqiNP_001599.1. NM_001608.3.
UniGeneiHs.471277.

3D structure databases

ProteinModelPortaliP28330.
SMRiP28330.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106551. 5 interactors.
IntActiP28330. 1 interactor.
STRINGi9606.ENSP00000233710.

Chemistry databases

SwissLipidsiSLP:000001327.

PTM databases

iPTMnetiP28330.
PhosphoSitePlusiP28330.
SwissPalmiP28330.

Polymorphism and mutation databases

BioMutaiACADL.
DMDMi223590148.

Proteomic databases

EPDiP28330.
MaxQBiP28330.
PaxDbiP28330.
PeptideAtlasiP28330.
PRIDEiP28330.

Protocols and materials databases

DNASUi33.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000233710; ENSP00000233710; ENSG00000115361.
GeneIDi33.
KEGGihsa:33.
UCSCiuc002vdz.5. human.

Organism-specific databases

CTDi33.
DisGeNETi33.
GeneCardsiACADL.
HGNCiHGNC:88. ACADL.
HPAiHPA010611.
HPA011990.
MalaCardsiACADL.
MIMi201475. phenotype.
609576. gene.
neXtProtiNX_P28330.
OpenTargetsiENSG00000115361.
Orphaneti99900. Long chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24424.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0141. Eukaryota.
ENOG410XNMY. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131659.
HOVERGENiHBG104903.
InParanoidiP28330.
KOiK00255.
OMAiKAGEAGM.
OrthoDBiEOG091G092G.
PhylomeDBiP28330.
TreeFamiTF105054.

Enzyme and pathway databases

UniPathwayiUPA00660.
BioCyciMetaCyc:HS03876-MONOMER.
ZFISH:HS03876-MONOMER.
ReactomeiR-HSA-77285. Beta oxidation of myristoyl-CoA to lauroyl-CoA.
R-HSA-77288. mitochondrial fatty acid beta-oxidation of unsaturated fatty acids.
R-HSA-77310. Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA.
SABIO-RKP28330.

Miscellaneous databases

ChiTaRSiACADL. human.
GenomeRNAii33.
PROiP28330.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115361.
CleanExiHS_ACADL.
GenevisibleiP28330. HS.

Family and domain databases

Gene3Di1.10.540.10. 1 hit.
InterProiIPR006089. Acyl-CoA_DH_CS.
IPR006091. Acyl-CoA_Oxase/DH_cen-dom.
IPR009075. AcylCo_DH/oxidase_C.
IPR013786. AcylCoA_DH/ox_N.
IPR009100. AcylCoA_DH/oxidase_NM_dom.
[Graphical view]
PfamiPF00441. Acyl-CoA_dh_1. 1 hit.
PF02770. Acyl-CoA_dh_M. 1 hit.
PF02771. Acyl-CoA_dh_N. 1 hit.
[Graphical view]
SUPFAMiSSF47203. SSF47203. 1 hit.
SSF56645. SSF56645. 1 hit.
PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
PS00073. ACYL_COA_DH_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACADL_HUMAN
AccessioniPrimary (citable) accession number: P28330
Secondary accession number(s): B2R8T3, Q8IUN8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 166 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.