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    ACAD11 acyl-CoA dehydrogenase family member 11 [ Homo sapiens (human) ]

    Gene ID: 84129, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ACAD11provided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase family member 11provided by HGNC
    Primary source
    HGNC:HGNC:30211
    See related
    Ensembl:ENSG00000240303 MIM:614288; AllianceGenome:HGNC:30211
    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
    ACAD-11
    Summary
    This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in kidney (RPKM 25.3), liver (RPKM 24.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACAD11 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (132558141..132659809, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135302651..135404302, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132276985..132378653, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132136675-132137210 Neighboring gene DnaJ heat shock protein family (Hsp40) member C13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:132190883-132191410 Neighboring gene uncharacterized LOC124909436 Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:132337002-132338201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:132345519-132346020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:132346021-132346520 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:132348758-132349957 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:132360104-132360294 Neighboring gene atypical chemokine receptor 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132378955-132379493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20539 Neighboring gene heat shock protein family A (Hsp70) member pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132411873-132412374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132412375-132412874 Neighboring gene ubiquitin like modifier activating enzyme 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20540 Neighboring gene nephrocystin 3 Neighboring gene NPHP3 antisense RNA 1 Neighboring gene uncharacterized LOC105374115

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analysis of p53 transactivation domain mutants reveals Acad11 as a metabolic target important for p53 pro-survival function. Jiang D, et al. Cell Rep, 2015 Feb 24. PMID 25704813, Free PMC Article
    2. Identification and characterization of new long chain acyl-CoA dehydrogenases. He M, et al. Mol Genet Metab, 2011 Apr. PMID 21237683, Free PMC Article
    3. Acyl-CoA dehydrogenases: Dynamic history of protein family evolution. Swigonová Z, et al. J Mol Evol, 2009 Aug. PMID 19639238, Free PMC Article
    4. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. Ohara O, et al. DNA Res, 2002 Apr 30. PMID 12056414
    5. A genome-wide assessment of variability in human serum metabolism. Hong MG, et al. Hum Mutat, 2013 Mar. PMID 23281178

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Acad11, encoding a protein involved in fatty acid oxidation, is required for efficient OXPHOS and cell survival upon glucose starvation.
      Title: Analysis of p53 transactivation domain mutants reveals Acad11 as a metabolic target important for p53 pro-survival function.
    2. ACAD11 utilizes substrates with primary carbon chain lengths between 20 and 26, with optimal activity towards C22CoA
      Title: Identification and characterization of new long chain acyl-CoA dehydrogenases.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough NPHP3-ACAD11

    Readthrough gene: NPHP3-ACAD11, Included gene: NPHP3

    Homology

    Clone Names

    • FLJ12592, MGC150619

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acyl-CoA dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables long-chain fatty acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables medium-chain fatty acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables very-long-chain fatty acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    acyl-CoA dehydrogenase family member 11
    Names
    acyl-Coenzyme A dehydrogenase family, member 11
    NP_115545.3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_042830.1 RefSeqGene

      Range
      5323..106991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032169.5 → NP_115545.3  acyl-CoA dehydrogenase family member 11

      See identical proteins and their annotated locations for NP_115545.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AI091999, BC125204
      Consensus CDS
      CCDS3074.1
      UniProtKB/Swiss-Prot
      Q08AF0, Q658N9, Q658Y2, Q6ZND2, Q709F0, Q8WUT6, Q9H9R3
      Related
      ENSP00000264990.6, ENST00000264990.11
      Conserved Domains (1) summary
      cl25414
      Location:11 → 770
      Acyl-CoA_dh_M; Acyl-CoA dehydrogenase, middle domain

    RNA

    1. NR_132426.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal segment compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL833721, DA804241
      Related
      ENST00000496418.5

    2. NR_132427.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal segment and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020632, AL832873, BC125204, CB240680

    3. NR_132428.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC125205, CB240680
      Related
      ENST00000485198.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      132558141..132659809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      135302651..135404302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q709F0.3 GenPept UniProtKB/Swiss-Prot:Q709F0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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