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Protein

Short-chain specific acyl-CoA dehydrogenase, mitochondrial

Gene

ACADS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

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

Keywordsi

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

Enzyme and pathway databases

BioCyciMetaCyc: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-RKiP16219
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

EuPathDBiHostDB:ENSG00000122971.8
HGNCiHGNC:90 ACADS
MIMi606885 gene
neXtProtiNX_P16219

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 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 dbSNP:rs121908003EnsemblClinVar.1
Natural variantiVAR_01356590G → S in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908005EnsemblClinVar.1
Natural variantiVAR_00031192G → C in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs121908004EnsemblClinVar.1
Natural variantiVAR_013566104Missing in ACADSD; no detectable activity. 1 Publication1
Natural variantiVAR_000312107R → C in ACADSD. Corresponds to variant dbSNP:rs61732144EnsemblClinVar.1
Natural variantiVAR_000314177W → R in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs57443665EnsemblClinVar.1
Natural variantiVAR_013568192A → V in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28940874EnsemblClinVar.1
Natural variantiVAR_013569325R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908006EnsemblClinVar.1
Natural variantiVAR_013570353S → L in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28941773EnsemblClinVar.1
Natural variantiVAR_013571380R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28940875EnsemblClinVar.1
Natural variantiVAR_000316383R → C in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs28940872EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Chemistry databases

DrugBankiDB03059 Acetoacetyl-Coenzyme A
DB03147 Flavin adenine dinucleotide
DB00157 NADH

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
ProteomicsDBi53323

2D gel databases

DOSAC-COBS-2DPAGEiP16219
SWISS-2DPAGEiP16219
UCD-2DPAGEiP16219

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, 14 interactors
IntActiP16219, 2 interactors
MINTiP16219
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

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
OMAiTNSWEAS
OrthoDBiEOG091G04BS
PhylomeDBiP16219
TreeFamiTF105019

Family and domain databases

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
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.

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 dbSNP:rs121908003EnsemblClinVar.1
Natural variantiVAR_01356590G → S in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908005EnsemblClinVar.1
Natural variantiVAR_00031192G → C in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs121908004EnsemblClinVar.1
Natural variantiVAR_013566104Missing in ACADSD; no detectable activity. 1 Publication1
Natural variantiVAR_000312107R → C in ACADSD. Corresponds to variant dbSNP:rs61732144EnsemblClinVar.1
Natural variantiVAR_013567171R → W 69% of wild-type activity; confers susceptibility to ethylmalonicaciduria. 2 PublicationsCorresponds to variant dbSNP:rs1800556EnsemblClinVar.1
Natural variantiVAR_000314177W → R in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs57443665EnsemblClinVar.1
Natural variantiVAR_013568192A → V in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28940874EnsemblClinVar.1
Natural variantiVAR_000315209G → S 86% of wild-type activity; confers susceptibility to ethylmalonicaciduria. 2 PublicationsCorresponds to variant dbSNP:rs1799958EnsemblClinVar.1
Natural variantiVAR_013569325R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs121908006EnsemblClinVar.1
Natural variantiVAR_013570353S → L in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28941773EnsemblClinVar.1
Natural variantiVAR_013571380R → W in ACADSD; no detectable activity. 1 PublicationCorresponds to variant dbSNP:rs28940875EnsemblClinVar.1
Natural variantiVAR_000316383R → C in ACADSD. 1 PublicationCorresponds to variant dbSNP:rs28940872EnsemblClinVar.1
Natural variantiVAR_033458383R → H. Corresponds to variant dbSNP:rs35233375Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiACADS_HUMAN
AccessioniPrimary (citable) accession number: P16219
Secondary accession number(s): P78331
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: June 20, 2018
This is version 197 of the entry and version 1 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

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

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