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

Gene ID: 84129, updated on 5-Mar-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
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Genomic context

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Location:
3q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (132558141..132659809, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135302651..135404302, complement)
105.20220307 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. Acyl-CoA dehydrogenases: Dynamic history of protein family evolution. Swigonová Z, et al. J Mol Evol, 2009 Aug. PMID 19639238, Free PMC Article
  3. Identification and characterization of new long chain acyl-CoA dehydrogenases. He M, et al. Mol Genet Metab, 2011 Apr. PMID 21237683, 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 (64) 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)

Genotypes

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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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_2023_10

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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