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FLASH GENE
Symbol ACAD9 contributors: mct - updated : 11-06-2013
HGNC name acyl-Coenzyme A dehydrogenase family, member 9
HGNC id 21497
Corresponding disease
ACAD9D Acyl-CoA dehydrogenase 9 deficiency
Location 3q21.3      Physical location : 128.598.332 - 128.631.956
Synonym name
  • acyl-CoA dehydrogenase 9
  • very-long-chain acyl-CoA dehydrogenase VLCAD
  • Synonym symbol(s) ACAD-9, NPD002, MGC14452, FLJ23533
    EC.number 1.3.99.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 33.50 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure two evolutionarily highly conserved regions, each with duplicated sequences homologous to nuclear respiratory factor 1 (NRF-1) and cAMP-responsive element transcription-factor binding sites (CREB)
    MAPPING cloned Y linked N status provisional
    Physical map
    TPRA40 3q21.2 seven transmembrane domain orphan receptor MCM2 3q21 MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae) PODLX2 15 endoglycan ABTB1 3q21 ankyrin repeat and BTB (POZ) domain containing 1 MGLL 3q21.3 monoglyceride lipase LOC166348 3q21.3 similar to RIKEN cDNA 4833415F11 SEC61A1 3q21.3 similar to RIKEN cDNA 4833415F11 RUVBL1 3q21 RuvB-like 1 (E. coli) SELB 3q21.3 elongation factor for selenoprotein translation LOC389146 3 LOC389146 DNAJB8 3q21.3 DnaJ (Hsp40) homolog, subfamily B, member 8 GATA2 3q21 GATA binding protein 2 LOC391572 3 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) GR6 3q21 similar to Transmembrane protein Tmp21 precursor (21 kDa Transmembrane trafficking protein) (p24delta) (S31III125) (S31I125) (Tmp-21-I) FLJ40473 3q21.3 hypothetical protein FLJ40473 RPN1 3q21.3-q25.2 ribophorin I RAB7 3q21 RAB7, member RAS oncogene family LOC391573 3 similar to mKIAA1860 protein LOC391574 3 similar to MAP/microtubule affinity-regulating kinase 4; MAP/microtubule affinity-regulating kinase 4L; MARK4 serine/threonine protein kinase LOC389147 3 similar to WD repeat domain 10 isoform 3 LOC391575 3 similar to Fat-specific protein FSP27 homolog ACAD9 3q21.3 acyl-Coenzyme A dehydrogenase family, member 9 KIAA1257 3q21.3 KIAA1257 protein FLJ12057 3q21.3 hypothetical protein FLJ12057 GP9 3q21 glycoprotein IX (platelet) LOC339122 KIAA1160 3q21.3 KIAA1160 protein ZNF9 3p13.3-q24 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) COPG 3q21.3 coatomer protein complex, subunit gamma DC12 3q21.3 DC12 protein H1FX 3q21.3 H1 histone family, member X LOC90288 3q21.3 hypothetical protein LOC90288 MBD4 3q21-q22 methyl-CpG binding domain protein 4 WDR10 3q21 WD repeat domain 10 RHO 3q21.3-q24 rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) H1FOO 3q21.3 H1 histone family, member O, oocyte-specific PLXND1 3q21.3 plexin D1 KIAA0779 3q21.3 plexin D1 TRH 3q13.3-q21 thyrotropin-releasing hormone LOC391576 3 hypothetical gene supported by AK122996 LOC285407 3q21.3 similar to mannosyltransferase LOC339944 3q21.3 similar to hypothetical protein FLJ10661 LOC389148 3 LOC389148 FLJ35880 3q22.1 hypothetical protein FLJ35880
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1872 - - - He
    intron 21 and exon 22 overlap an unrelated gene, KIAA1257
    - - 2485 - 621 - He
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrineadrenal gland   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
     spinal cord    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousneuron
    Visualcone photoreceptor Homo sapiens
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • mitochondrial acyl-CoA dehydrogenase protein family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • involved in electron transport
  • long-chain acyl-CoA dehydrogenase in embryonic and fetal central nervous tissue, that may play a role in the turnover of lipid membrane unsaturated fatty acids essential for membrane integrity and structure
  • playing a role in the mitochondrial beta-oxidation of long-chain unsaturated fatty acids
  • playing a possible role in the recycling of complex neural lipids and production of intermediate metabolites for synthetic pathways
  • role for ACAD9 in oxidative phosphorylation
  • new function in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
  • TMEM126B forms a complex with other assembly factors: NDUFAF1, ACAD9, and ECSIT
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds complex I assembly factors NDUFAF1 and ECSIT and is specifically required for the assembly of complex I
  • TIMMDC1 reciprocally associate with multiple components of the ECSIT-TMEM126B-ACAD9-NDUFAF1 assembly factor complex (MCIA complex), as well as subunits of the soluble and matrix arms
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACAD9D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS