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Protein

Long-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADL

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

Functioni

Miscellaneous

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

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

Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc: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-RKiP28330
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

EuPathDBiHostDB:ENSG00000115361.7
HGNCiHGNC:88 ACADL
MIMi609576 gene
neXtProtiNX_P28330

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

MaxQBiP28330
PaxDbiP28330
PeptideAtlasiP28330
PRIDEiP28330

PTM databases

iPTMnetiP28330
PhosphoSitePlusiP28330
SwissPalmiP28330

Expressioni

Gene expression databases

BgeeiENSG00000115361
CleanExiHS_ACADL
GenevisibleiP28330 HS

Organism-specific databases

HPAiHPA011990

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi106551, 7 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
OMAiQEEVIPH
OrthoDBiEOG091G092G
PhylomeDBiP28330
TreeFamiTF105054

Family and domain databases

CDDicd01160 LCAD, 1 hit
Gene3Di1.10.540.10, 1 hit
InterProiView protein in InterPro
IPR006089 Acyl-CoA_DH_CS
IPR006091 Acyl-CoA_Oxase/DH_cen-dom
IPR036250 AcylCo_DH-like_C
IPR009075 AcylCo_DH/oxidase_C
IPR013786 AcylCoA_DH/ox_N
IPR037069 AcylCoA_DH/ox_N_sf
IPR009100 AcylCoA_DH/oxidase_NM_dom
IPR034179 LCAD
PfamiView protein in Pfam
PF00441 Acyl-CoA_dh_1, 1 hit
PF02770 Acyl-CoA_dh_M, 1 hit
PF02771 Acyl-CoA_dh_N, 1 hit
SUPFAMiSSF47203 SSF47203, 1 hit
SSF56645 SSF56645, 1 hit
PROSITEiView protein in PROSITE
PS00072 ACYL_COA_DH_1, 1 hit
PS00073 ACYL_COA_DH_2, 1 hit

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 → T1 PublicationCorresponds to variant dbSNP:rs1801204Ensembl.1
Natural variantiVAR_000329333K → Q2 PublicationsCorresponds to variant dbSNP:rs2286963Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiACADL_HUMAN
AccessioniPrimary (citable) accession number: P28330
Secondary accession number(s): B2R8T3, Q8IUN8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: February 10, 2009
Last modified: January 31, 2018
This is version 174 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health