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

Acyl-CoA dehydrogenase family member 9, mitochondrial

Gene

ACAD9

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

Functioni

Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).2 Publications

Cofactori

FADBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei426Proton acceptorBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177646-MONOMER.
ReactomeiR-HSA-6799198. Complex I biogenesis.
SABIO-RKQ9H845.

Chemistry databases

SwissLipidsiSLP:000000619.

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-CoA dehydrogenase family member 9, mitochondrial (EC:1.3.99.-)
Short name:
ACAD-9
Gene namesi
Name:ACAD9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:21497. ACAD9.

Subcellular locationi

GO - Cellular componenti

  • dendrite Source: UniProtKB
  • mitochondrial inner membrane Source: Reactome
  • mitochondrion Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction.
See also OMIM:611126
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07189244F → I in ACAD9 deficiency. 1 PublicationCorresponds to variant rs387907041dbSNPEnsembl.1
Natural variantiVAR_071893127R → K in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071894193R → W in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs377547811dbSNPEnsembl.1
Natural variantiVAR_071895220A → V in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071896234S → F in ACAD9 deficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_071897266R → Q in ACAD9 deficiency. 1 PublicationCorresponds to variant rs387907042dbSNPEnsembl.1
Natural variantiVAR_076177271C → G in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071898303G → S in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs143383023dbSNPEnsembl.1
Natural variantiVAR_071899326A → T in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs115532916dbSNPEnsembl.1
Natural variantiVAR_076178384V → M in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071900413E → K in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs149753643dbSNPEnsembl.1
Natural variantiVAR_071901414R → C in ACAD9 deficiency. 1 PublicationCorresponds to variant rs777282696dbSNPEnsembl.1
Natural variantiVAR_071902417R → C in ACAD9 deficiency. 1 PublicationCorresponds to variant rs368949613dbSNPEnsembl.1
Natural variantiVAR_071903469R → W in ACAD9 deficiency. 1 PublicationCorresponds to variant rs139145143dbSNPEnsembl.1
Natural variantiVAR_071904518R → H in ACAD9 deficiency. 1 PublicationCorresponds to variant rs781149699dbSNPEnsembl.1
Natural variantiVAR_071905532R → W in ACAD9 deficiency. 3 PublicationsCorresponds to variant rs377022708dbSNPEnsembl.1
Natural variantiVAR_076179606L → H in ACAD9 deficiency. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi426E → Q: Catalytically inactive. Does not affect mitochondrial complex I assembly. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi28976.
MalaCardsiACAD9.
MIMi611126. phenotype.
OpenTargetsiENSG00000177646.
Orphaneti99901. Acyl-CoA dehydrogenase 9 deficiency.
2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA134900655.

Polymorphism and mutation databases

BioMutaiACAD9.
DMDMi32469596.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000000524? – 621Acyl-CoA dehydrogenase family member 9, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei41N6-acetyllysineCombined sources1
Modified residuei92N6-succinyllysineBy similarity1
Modified residuei478PhosphothreonineBy similarity1
Modified residuei521N6-acetyllysine; alternateBy similarity1
Modified residuei521N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H845.
MaxQBiQ9H845.
PaxDbiQ9H845.
PeptideAtlasiQ9H845.
PRIDEiQ9H845.

PTM databases

iPTMnetiQ9H845.
PhosphoSitePlusiQ9H845.
SwissPalmiQ9H845.

Expressioni

Tissue specificityi

Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver.1 Publication

Gene expression databases

BgeeiENSG00000177646.
CleanExiHS_ACAD9.
ExpressionAtlasiQ9H845. baseline and differential.
GenevisibleiQ9H845. HS.

Organism-specific databases

HPAiHPA037716.
HPA046720.

Interactioni

Subunit structurei

Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with NDUFAF1 and ECSIT (PubMed:20816094).By similarity1 Publication

Protein-protein interaction databases

BioGridi118799. 68 interactors.
DIPiDIP-53699N.
IntActiQ9H845. 32 interactors.
STRINGi9606.ENSP00000312618.

Structurei

3D structure databases

ProteinModelPortaliQ9H845.
SMRiQ9H845.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the acyl-CoA dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0137. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131665.
HOVERGENiHBG050448.
InParanoidiQ9H845.
KOiK15980.
OMAiMKEEIFM.
OrthoDBiEOG091G04BS.
PhylomeDBiQ9H845.
TreeFamiTF105053.

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. 2 hits.
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.

Q9H845-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSGCGLFLRT TAAARACRGL VVSTANRRLL RTSPPVRAFA KELFLGKIKK
60 70 80 90 100
KEVFPFPEVS QDELNEINQF LGPVEKFFTE EVDSRKIDQE GKIPDETLEK
110 120 130 140 150
LKSLGLFGLQ VPEEYGGLGF SNTMYSRLGE IISMDGSITV TLAAHQAIGL
160 170 180 190 200
KGIILAGTEE QKAKYLPKLA SGEHIAAFCL TEPASGSDAA SIRSRATLSE
210 220 230 240 250
DKKHYILNGS KVWITNGGLA NIFTVFAKTE VVDSDGSVKD KITAFIVERD
260 270 280 290 300
FGGVTNGKPE DKLGIRGSNT CEVHFENTKI PVENILGEVG DGFKVAMNIL
310 320 330 340 350
NSGRFSMGSV VAGLLKRLIE MTAEYACTRK QFNKRLSEFG LIQEKFALMA
360 370 380 390 400
QKAYVMESMT YLTAGMLDQP GFPDCSIEAA MVKVFSSEAA WQCVSEALQI
410 420 430 440 450
LGGLGYTRDY PYERILRDTR ILLIFEGTNE ILRMYIALTG LQHAGRILTT
460 470 480 490 500
RIHELKQAKV STVMDTVGRR LRDSLGRTVD LGLTGNHGVV HPSLADSANK
510 520 530 540 550
FEENTYCFGR TVETLLLRFG KTIMEEQLVL KRVANILINL YGMTAVLSRA
560 570 580 590 600
SRSIRIGLRN HDHEVLLANT FCVEAYLQNL FSLSQLDKYA PENLDEQIKK
610 620
VSQQILEKRA YICAHPLDRT C
Length:621
Mass (Da):68,760
Last modified:March 1, 2001 - v1
Checksum:i064BCE0378877F54
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti397A → V in AAL56011 (PubMed:12359260).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07189244F → I in ACAD9 deficiency. 1 PublicationCorresponds to variant rs387907041dbSNPEnsembl.1
Natural variantiVAR_071893127R → K in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071894193R → W in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs377547811dbSNPEnsembl.1
Natural variantiVAR_071895220A → V in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071896234S → F in ACAD9 deficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_071897266R → Q in ACAD9 deficiency. 1 PublicationCorresponds to variant rs387907042dbSNPEnsembl.1
Natural variantiVAR_076177271C → G in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071898303G → S in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs143383023dbSNPEnsembl.1
Natural variantiVAR_071899326A → T in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs115532916dbSNPEnsembl.1
Natural variantiVAR_076178384V → M in ACAD9 deficiency. 1 Publication1
Natural variantiVAR_071900413E → K in ACAD9 deficiency; unknown pathological significance. 1 PublicationCorresponds to variant rs149753643dbSNPEnsembl.1
Natural variantiVAR_071901414R → C in ACAD9 deficiency. 1 PublicationCorresponds to variant rs777282696dbSNPEnsembl.1
Natural variantiVAR_071902417R → C in ACAD9 deficiency. 1 PublicationCorresponds to variant rs368949613dbSNPEnsembl.1
Natural variantiVAR_071903469R → W in ACAD9 deficiency. 1 PublicationCorresponds to variant rs139145143dbSNPEnsembl.1
Natural variantiVAR_033459477R → Q.Corresponds to variant rs4494951dbSNPEnsembl.1
Natural variantiVAR_071904518R → H in ACAD9 deficiency. 1 PublicationCorresponds to variant rs781149699dbSNPEnsembl.1
Natural variantiVAR_071905532R → W in ACAD9 deficiency. 3 PublicationsCorresponds to variant rs377022708dbSNPEnsembl.1
Natural variantiVAR_076179606L → H in ACAD9 deficiency. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327351 mRNA. Translation: AAL56011.1.
AK024012 mRNA. Translation: BAB14775.1.
CH471052 Genomic DNA. Translation: EAW79295.1.
CH471052 Genomic DNA. Translation: EAW79296.1.
BC013354 mRNA. Translation: AAH13354.1.
BC007970 mRNA. Translation: AAH07970.1.
CCDSiCCDS3053.1.
PIRiJC7892.
RefSeqiNP_054768.2. NM_014049.4.
UniGeneiHs.567482.
Hs.734399.

Genome annotation databases

EnsembliENST00000308982; ENSP00000312618; ENSG00000177646.
GeneIDi28976.
KEGGihsa:28976.
UCSCiuc003ela.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327351 mRNA. Translation: AAL56011.1.
AK024012 mRNA. Translation: BAB14775.1.
CH471052 Genomic DNA. Translation: EAW79295.1.
CH471052 Genomic DNA. Translation: EAW79296.1.
BC013354 mRNA. Translation: AAH13354.1.
BC007970 mRNA. Translation: AAH07970.1.
CCDSiCCDS3053.1.
PIRiJC7892.
RefSeqiNP_054768.2. NM_014049.4.
UniGeneiHs.567482.
Hs.734399.

3D structure databases

ProteinModelPortaliQ9H845.
SMRiQ9H845.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118799. 68 interactors.
DIPiDIP-53699N.
IntActiQ9H845. 32 interactors.
STRINGi9606.ENSP00000312618.

Chemistry databases

SwissLipidsiSLP:000000619.

PTM databases

iPTMnetiQ9H845.
PhosphoSitePlusiQ9H845.
SwissPalmiQ9H845.

Polymorphism and mutation databases

BioMutaiACAD9.
DMDMi32469596.

Proteomic databases

EPDiQ9H845.
MaxQBiQ9H845.
PaxDbiQ9H845.
PeptideAtlasiQ9H845.
PRIDEiQ9H845.

Protocols and materials databases

DNASUi28976.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308982; ENSP00000312618; ENSG00000177646.
GeneIDi28976.
KEGGihsa:28976.
UCSCiuc003ela.5. human.

Organism-specific databases

CTDi28976.
DisGeNETi28976.
GeneCardsiACAD9.
H-InvDBHIX0003659.
HGNCiHGNC:21497. ACAD9.
HPAiHPA037716.
HPA046720.
MalaCardsiACAD9.
MIMi611103. gene.
611126. phenotype.
neXtProtiNX_Q9H845.
OpenTargetsiENSG00000177646.
Orphaneti99901. Acyl-CoA dehydrogenase 9 deficiency.
2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA134900655.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0137. Eukaryota.
COG1960. LUCA.
GeneTreeiENSGT00760000119007.
HOGENOMiHOG000131665.
HOVERGENiHBG050448.
InParanoidiQ9H845.
KOiK15980.
OMAiMKEEIFM.
OrthoDBiEOG091G04BS.
PhylomeDBiQ9H845.
TreeFamiTF105053.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000177646-MONOMER.
ReactomeiR-HSA-6799198. Complex I biogenesis.
SABIO-RKQ9H845.

Miscellaneous databases

GeneWikiiACAD9.
GenomeRNAii28976.
PROiQ9H845.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177646.
CleanExiHS_ACAD9.
ExpressionAtlasiQ9H845. baseline and differential.
GenevisibleiQ9H845. 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. 2 hits.
SSF56645. SSF56645. 1 hit.
PROSITEiPS00072. ACYL_COA_DH_1. 1 hit.
PS00073. ACYL_COA_DH_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACAD9_HUMAN
AccessioniPrimary (citable) accession number: Q9H845
Secondary accession number(s): D3DNB8, Q8WXX3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 143 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. 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.