Format

Send to:

Choose Destination

ACAD9 acyl-CoA dehydrogenase family member 9 [ Homo sapiens (human) ]

Gene ID: 28976, updated on 5-Aug-2018

Summary

Official Symbol
ACAD9provided by HGNC
Official Full Name
acyl-CoA dehydrogenase family member 9provided by HGNC
Primary source
HGNC:HGNC:21497
See related
Ensembl:ENSG00000177646 MIM:611103; Vega:OTTHUMG00000159942
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPD002
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in skin (RPKM 14.5), fat (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See ACAD9 in Genome Data Viewer
Location:
3q21.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (128879490..128913114)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128598333..128631957)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 6 Neighboring gene intraflagellar transport 122 homolog (Chlamydomonas) pseudogene Neighboring gene KIAA1257 Neighboring gene EF-hand and coiled-coil domain containing 1 Neighboring gene jumonji domain containing 4 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acyl-CoA dehydrogenase family, member 9, deficiency of
MedGen: C1970173 OMIM: 611126 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23533, MGC14452

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
long-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
medium-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
very-long-chain-acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
medium-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
acyl-CoA dehydrogenase family member 9, mitochondrial
Names
acyl-Coenzyme A dehydrogenase family, member 9
very-long-chain acyl-CoA dehydrogenase VLCAD

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017064.1 RefSeqGene

    Range
    5001..38625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014049.4NP_054768.2  acyl-CoA dehydrogenase family member 9, mitochondrial

    See identical proteins and their annotated locations for NP_054768.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    BC007970, BC013354, DA630022
    Consensus CDS
    CCDS3053.1
    UniProtKB/Swiss-Prot
    Q9H845
    Related
    ENSP00000312618.7, OTTHUMP00000217095, ENST00000308982.11, OTTHUMT00000358405
    Conserved Domains (1) summary
    cd01161
    Location:38445
    VLCAD; Very long chain acyl-CoA dehydrogenase

RNA

  1. NR_033426.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an addition segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297952, BC007970, DA630022
    Related
    ENST00000511227.5, OTTHUMT00000358406

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    128879490..128913114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453484.1XP_024309252.1  acyl-CoA dehydrogenase family member 9, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl09933
    Location:1322
    ACAD; Acyl-CoA dehydrogenase
  2. XM_024453485.1XP_024309253.1  acyl-CoA dehydrogenase family member 9, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl09933
    Location:1322
    ACAD; Acyl-CoA dehydrogenase

RNA

  1. XR_427367.3 RNA Sequence

Support Center