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Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 [ Mus musculus (house mouse) ]

Gene ID: 104776, updated on 5-Mar-2024

Summary

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Official Symbol
Aldh6a1provided by MGI
Official Full Name
aldehyde dehydrogenase family 6, subfamily A1provided by MGI
Primary source
MGI:MGI:1915077
See related
Ensembl:ENSMUSG00000021238 AllianceGenome:MGI:1915077
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mmsdh; 1110038I05Rik
Summary
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
Expression
Broad expression in kidney adult (RPKM 98.0), genital fat pad adult (RPKM 55.1) and 19 other tissues See more
Orthologs
human all
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Genomic context

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Location:
12 D1; 12 39.21 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84477491..84497798, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84430717..84451024, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:85729760-85729947 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 Neighboring gene STARR-positive B cell enhancer ABC_E8493 Neighboring gene ring finger protein 113A2 Neighboring gene basal body orientation factor 1 Neighboring gene STARR-positive B cell enhancer ABC_E80 Neighboring gene lin-52 DREAM MuvB core complex component Neighboring gene STARR-seq mESC enhancer starr_32738 Neighboring gene STARR-seq mESC enhancer starr_32740 Neighboring gene STARR-seq mESC enhancer starr_32741 Neighboring gene visual system homeobox 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Energy restriction does not compensate for the reduced expression of hepatic drug-processing genes in mice with aging. Zhang YK, et al. Drug Metab Dispos, 2010 Jul. PMID 20382754, Free PMC Article
  2. Aldehyde dehydrogenase 1a1 is dispensable for stem cell function in the mouse hematopoietic and nervous systems. Levi BP, et al. Blood, 2009 Feb 19. PMID 18971422, Free PMC Article
  3. Wdnm1-like, a new adipokine with a role in MMP-2 activation. Wu Y, et al. Am J Physiol Endocrinol Metab, 2008 Jul. PMID 18492766, Free PMC Article
  4. A protein interaction network for the large conductance Ca(2+)-activated K(+) channel in the mouse cochlea. Kathiresan T, et al. Mol Cell Proteomics, 2009 Aug. PMID 19423573, Free PMC Article
  5. The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins. Hémono M, et al. BMC Biol, 2022 Jan 10. PMID 35012549, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

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

Homology

Clone Names

  • MGC37325

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
  
enables thiolester hydrolase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in beta-alanine catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within brown fat cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thymine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in thymine catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in thymine metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in valine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in valine catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in valine metabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial
Names
aldehyde dehydrogenase family 6 member A1
malonate-semialdehyde dehydrogenase
methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
NP_001300896.1
NP_598803.1
XP_017170417.1
XP_036013042.1

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.

mRNA and Protein(s)

  1. NM_001313967.1 → NP_001300896.1  methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon resulting in translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC120402
    UniProtKB/TrEMBL
    Q8K0L1
    Related
    ENSMUST00000222641.2
    Conserved Domains (1) summary
    cd07085
    Location:1 → 438
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2

  2. NM_134042.3 → NP_598803.1  methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_598803.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK147146, BB849555, BQ176083
    Consensus CDS
    CCDS26046.1
    UniProtKB/Swiss-Prot
    Q3TDA2, Q8CIB4, Q9EQ20
    Related
    ENSMUSP00000082288.6, ENSMUST00000085192.7
    Conserved Domains (1) summary
    cd07085
    Location:40 → 516
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    84477491..84497798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157149.1 → XP_036013042.1  methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform X1

    Conserved Domains (1) summary
    cd07085
    Location:38 → 491
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2

  2. XM_017314928.3 → XP_017170417.1  methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform X2

    Conserved Domains (1) summary
    cd07085
    Location:1 → 362
    ALDH_F6_MMSDH; Methylmalonate semialdehyde dehydrogenase and ALDH family members 6A1 and 6B2
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EQ20.1 GenPept UniProtKB/Swiss-Prot:Q9EQ20

Gene LinkOut

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