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Protein

Short-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADS

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

Functioni

Introduces a double bond at position 2 in saturated acyl-CoA's of short chain length, i.e. less than 6 carbon atoms.By similarity

Catalytic activityi

A short-chain acyl-CoA + electron-transfer flavoprotein = a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.By similarity

Cofactori

FAD1 PublicationNote: Binds 1 FAD per subunit.1 Publication

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei161Substrate; via carbonyl oxygen1
Binding sitei297FAD; shared with dimeric partner1 Publication1
Binding sitei308FAD1 Publication1
Active sitei392Proton acceptorBy similarity1
Binding sitei393Substrate; via amide nitrogen1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi152 – 161FAD1 Publication10
Nucleotide bindingi185 – 187FAD1 Publication3
Nucleotide bindingi365 – 369FAD; shared with dimeric partner1 Publication5
Nucleotide bindingi394 – 396FAD1 Publication3

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:HS04619-MONOMER.
ZFISH:HS04619-MONOMER.
ReactomeiR-HSA-77350. Beta oxidation of hexanoyl-CoA to butanoyl-CoA.
R-HSA-77352. Beta oxidation of butanoyl-CoA to acetyl-CoA.
SABIO-RKP16219.
UniPathwayiUPA00660.

Chemistry databases

SwissLipidsiSLP:000001403.

Names & Taxonomyi

Protein namesi
Recommended name:
Short-chain specific acyl-CoA dehydrogenase, mitochondrial (EC:1.3.8.1)
Short name:
SCAD
Alternative name(s):
Butyryl-CoA dehydrogenase
Gene namesi
Name:ACADS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:90. ACADS.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: MGI
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.
See also OMIM:201470
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00031046R → W in ACADSD. Corresponds to variant rs121908003dbSNPEnsembl.1
Natural variantiVAR_01356590G → S in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs121908005dbSNPEnsembl.1
Natural variantiVAR_00031192G → C in ACADSD. 1 PublicationCorresponds to variant rs121908004dbSNPEnsembl.1
Natural variantiVAR_013566104Missing in ACADSD; no detectable activity. 1 Publication1
Natural variantiVAR_000312107R → C in ACADSD. Corresponds to variant rs61732144dbSNPEnsembl.1
Natural variantiVAR_000314177W → R in ACADSD. 1 PublicationCorresponds to variant rs57443665dbSNPEnsembl.1
Natural variantiVAR_013568192A → V in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28940874dbSNPEnsembl.1
Natural variantiVAR_013569325R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs121908006dbSNPEnsembl.1
Natural variantiVAR_013570353S → L in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28941773dbSNPEnsembl.1
Natural variantiVAR_013571380R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28940875dbSNPEnsembl.1
Natural variantiVAR_000316383R → C in ACADSD. 1 PublicationCorresponds to variant rs28940872dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi35.
MalaCardsiACADS.
MIMi201470. phenotype.
OpenTargetsiENSG00000122971.
Orphaneti26792. Short chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24426.

Chemistry databases

DrugBankiDB03147. Flavin adenine dinucleotide.

Polymorphism and mutation databases

BioMutaiACADS.
DMDMi113019.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 24Mitochondrion1 PublicationAdd BLAST24
ChainiPRO_000000049825 – 412Short-chain specific acyl-CoA dehydrogenase, mitochondrialAdd BLAST388

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei27PhosphothreonineBy similarity1
Modified residuei51N6-acetyllysine; alternateBy similarity1
Modified residuei51N6-succinyllysine; alternateBy similarity1
Modified residuei72N6-acetyllysineBy similarity1
Modified residuei129N6-acetyllysine; alternateBy similarity1
Modified residuei129N6-succinyllysine; alternateBy similarity1
Modified residuei208N6-acetyllysineBy similarity1
Modified residuei262N6-acetyllysine; alternateBy similarity1
Modified residuei262N6-succinyllysine; alternateBy similarity1
Modified residuei306N6-acetyllysine; alternateBy similarity1
Modified residuei306N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP16219.
MaxQBiP16219.
PaxDbiP16219.
PeptideAtlasiP16219.
PRIDEiP16219.

2D gel databases

DOSAC-COBS-2DPAGEP16219.
SWISS-2DPAGEP16219.
UCD-2DPAGEP16219.

PTM databases

iPTMnetiP16219.
PhosphoSitePlusiP16219.

Expressioni

Gene expression databases

BgeeiENSG00000122971.
CleanExiHS_ACADS.
ExpressionAtlasiP16219. baseline and differential.
GenevisibleiP16219. HS.

Organism-specific databases

HPAiCAB019284.
HPA004799.
HPA022271.

Interactioni

Subunit structurei

Homotetramer.1 Publication

Protein-protein interaction databases

BioGridi106553. 12 interactors.
IntActiP16219. 2 interactors.
STRINGi9606.ENSP00000242592.

Structurei

Secondary structure

1412
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi36 – 52Combined sources17
Turni53 – 56Combined sources4
Helixi57 – 63Combined sources7
Helixi68 – 77Combined sources10
Turni78 – 80Combined sources3
Helixi86 – 88Combined sources3
Helixi95 – 108Combined sources14
Helixi110 – 121Combined sources12
Helixi124 – 130Combined sources7
Helixi133 – 139Combined sources7
Helixi141 – 143Combined sources3
Beta strandi144 – 147Combined sources4
Beta strandi150 – 153Combined sources4
Beta strandi159 – 162Combined sources4
Helixi163 – 165Combined sources3
Beta strandi169 – 173Combined sources5
Beta strandi176 – 187Combined sources12
Turni188 – 191Combined sources4
Beta strandi193 – 200Combined sources8
Beta strandi203 – 205Combined sources3
Beta strandi210 – 218Combined sources9
Beta strandi222 – 224Combined sources3
Beta strandi230 – 232Combined sources3
Beta strandi238 – 249Combined sources12
Helixi250 – 252Combined sources3
Beta strandi253 – 256Combined sources4
Helixi260 – 296Combined sources37
Helixi304 – 306Combined sources3
Helixi308 – 336Combined sources29
Helixi342 – 367Combined sources26
Helixi368 – 372Combined sources5
Helixi378 – 388Combined sources11
Turni389 – 392Combined sources4
Helixi395 – 411Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VIGX-ray1.90A/B/C/D/E/F/G/H30-412[»]
ProteinModelPortaliP16219.
SMRiP16219.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP16219.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni269 – 272Substrate binding4

Sequence similaritiesi

Belongs to the acyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0139. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131659.
HOVERGENiHBG000224.
InParanoidiP16219.
KOiK00248.
OMAiVYVIFAM.
OrthoDBiEOG091G04BS.
PhylomeDBiP16219.
TreeFamiTF105019.

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.

P16219-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAALLARAS GPARRALCPR AWRQLHTIYQ SVELPETHQM LLQTCRDFAE
60 70 80 90 100
KELFPIAAQV DKEHLFPAAQ VKKMGGLGLL AMDVPEELGG AGLDYLAYAI
110 120 130 140 150
AMEEISRGCA STGVIMSVNN SLYLGPILKF GSKEQKQAWV TPFTSGDKIG
160 170 180 190 200
CFALSEPGNG SDAGAASTTA RAEGDSWVLN GTKAWITNAW EASAAVVFAS
210 220 230 240 250
TDRALQNKGI SAFLVPMPTP GLTLGKKEDK LGIRGSSTAN LIFEDCRIPK
260 270 280 290 300
DSILGEPGMG FKIAMQTLDM GRIGIASQAL GIAQTALDCA VNYAENRMAF
310 320 330 340 350
GAPLTKLQVI QFKLADMALA LESARLLTWR AAMLKDNKKP FIKEAAMAKL
360 370 380 390 400
AASEAATAIS HQAIQILGGM GYVTEMPAER HYRDARITEI YEGTSEIQRL
410
VIAGHLLRSY RS
Length:412
Mass (Da):44,297
Last modified:April 1, 1990 - v1
Checksum:i3E946ADFC3DA3C0E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00031046R → W in ACADSD. Corresponds to variant rs121908003dbSNPEnsembl.1
Natural variantiVAR_01356590G → S in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs121908005dbSNPEnsembl.1
Natural variantiVAR_00031192G → C in ACADSD. 1 PublicationCorresponds to variant rs121908004dbSNPEnsembl.1
Natural variantiVAR_013566104Missing in ACADSD; no detectable activity. 1 Publication1
Natural variantiVAR_000312107R → C in ACADSD. Corresponds to variant rs61732144dbSNPEnsembl.1
Natural variantiVAR_013567171R → W 69% of wild-type activity; confers susceptibility to ethylmalonicaciduria. 2 PublicationsCorresponds to variant rs1800556dbSNPEnsembl.1
Natural variantiVAR_000314177W → R in ACADSD. 1 PublicationCorresponds to variant rs57443665dbSNPEnsembl.1
Natural variantiVAR_013568192A → V in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28940874dbSNPEnsembl.1
Natural variantiVAR_000315209G → S 86% of wild-type activity; confers susceptibility to ethylmalonicaciduria. 2 PublicationsCorresponds to variant rs1799958dbSNPEnsembl.1
Natural variantiVAR_013569325R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs121908006dbSNPEnsembl.1
Natural variantiVAR_013570353S → L in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28941773dbSNPEnsembl.1
Natural variantiVAR_013571380R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant rs28940875dbSNPEnsembl.1
Natural variantiVAR_000316383R → C in ACADSD. 1 PublicationCorresponds to variant rs28940872dbSNPEnsembl.1
Natural variantiVAR_033458383R → H.Corresponds to variant rs35233375dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26393 mRNA. Translation: AAA60307.1.
Z80345, Z80347 Genomic DNA. Translation: CAB02492.1.
U83992, U83991 Genomic DNA. Translation: AAD00552.1.
BC025963 mRNA. Translation: AAH25963.1.
CCDSiCCDS9207.1.
PIRiA30605.
RefSeqiNP_000008.1. NM_000017.3.
NP_001289483.1. NM_001302554.1.
UniGeneiHs.507076.

Genome annotation databases

EnsembliENST00000242592; ENSP00000242592; ENSG00000122971.
GeneIDi35.
KEGGihsa:35.
UCSCiuc001tza.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Butyryl-CoA dehydrogenase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26393 mRNA. Translation: AAA60307.1.
Z80345, Z80347 Genomic DNA. Translation: CAB02492.1.
U83992, U83991 Genomic DNA. Translation: AAD00552.1.
BC025963 mRNA. Translation: AAH25963.1.
CCDSiCCDS9207.1.
PIRiA30605.
RefSeqiNP_000008.1. NM_000017.3.
NP_001289483.1. NM_001302554.1.
UniGeneiHs.507076.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VIGX-ray1.90A/B/C/D/E/F/G/H30-412[»]
ProteinModelPortaliP16219.
SMRiP16219.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106553. 12 interactors.
IntActiP16219. 2 interactors.
STRINGi9606.ENSP00000242592.

Chemistry databases

DrugBankiDB03147. Flavin adenine dinucleotide.
SwissLipidsiSLP:000001403.

PTM databases

iPTMnetiP16219.
PhosphoSitePlusiP16219.

Polymorphism and mutation databases

BioMutaiACADS.
DMDMi113019.

2D gel databases

DOSAC-COBS-2DPAGEP16219.
SWISS-2DPAGEP16219.
UCD-2DPAGEP16219.

Proteomic databases

EPDiP16219.
MaxQBiP16219.
PaxDbiP16219.
PeptideAtlasiP16219.
PRIDEiP16219.

Protocols and materials databases

DNASUi35.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242592; ENSP00000242592; ENSG00000122971.
GeneIDi35.
KEGGihsa:35.
UCSCiuc001tza.5. human.

Organism-specific databases

CTDi35.
DisGeNETi35.
GeneCardsiACADS.
GeneReviewsiACADS.
HGNCiHGNC:90. ACADS.
HPAiCAB019284.
HPA004799.
HPA022271.
MalaCardsiACADS.
MIMi201470. phenotype.
606885. gene.
neXtProtiNX_P16219.
OpenTargetsiENSG00000122971.
Orphaneti26792. Short chain acyl-CoA dehydrogenase deficiency.
PharmGKBiPA24426.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0139. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131659.
HOVERGENiHBG000224.
InParanoidiP16219.
KOiK00248.
OMAiVYVIFAM.
OrthoDBiEOG091G04BS.
PhylomeDBiP16219.
TreeFamiTF105019.

Enzyme and pathway databases

UniPathwayiUPA00660.
BioCyciMetaCyc:HS04619-MONOMER.
ZFISH:HS04619-MONOMER.
ReactomeiR-HSA-77350. Beta oxidation of hexanoyl-CoA to butanoyl-CoA.
R-HSA-77352. Beta oxidation of butanoyl-CoA to acetyl-CoA.
SABIO-RKP16219.

Miscellaneous databases

EvolutionaryTraceiP16219.
GenomeRNAii35.
PROiP16219.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122971.
CleanExiHS_ACADS.
ExpressionAtlasiP16219. baseline and differential.
GenevisibleiP16219. 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 nameiACADS_HUMAN
AccessioniPrimary (citable) accession number: P16219
Secondary accession number(s): P78331
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: November 2, 2016
This is version 188 of the entry and version 1 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. 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.