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    Aldh6a1 aldehyde dehydrogenase 6 family, member A1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 81708, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Aldh6a1provided by RGD
    Official Full Name
    aldehyde dehydrogenase 6 family, member A1provided by RGD
    Primary source
    RGD:621556
    See related
    Ensembl:ENSRNOG00000011419 AllianceGenome:RGD:621556
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mmsdh
    Summary
    Enables malonate-semialdehyde dehydrogenase (acetylating) activity; methylmalonate-semialdehyde dehydrogenase (acylating) activity; and thiolester hydrolase activity. Involved in beta-alanine catabolic process; thymine catabolic process; and valine catabolic process. Predicted to be located in nucleoplasm. Predicted to be active in mitochondrion. Orthologous to human ALDH6A1 (aldehyde dehydrogenase 6 family member A1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Kidney (RPKM 2899.5), Liver (RPKM 1598.1) and 5 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    6q31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (109809092..109829725, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (104077975..104098636, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (108146552..108167185, complement)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene coenzyme Q6 monooxygenase Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 Neighboring gene ring finger protein 113A2 Neighboring gene basal body orientation factor 1 Neighboring gene lin-52 DREAM MuvB core complex component 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Epididymosome-mediated acquisition of MMSDH, an androgen-dependent and developmentally regulated epididymal sperm protein. Suryawanshi AR, et al. J Androl, 2012 Sep-Oct. PMID 22207704
    2. Purification and characterization of methylmalonate-semialdehyde dehydrogenase from rat liver. Identity to malonate-semialdehyde dehydrogenase. Goodwin GW, et al. J Biol Chem, 1989 Sep 5. PMID 2768248
    3. The effect of ligand binding on the proteolytic pattern of methylmalonate semialdehyde dehydrogenase. Kedishvili NY, et al. Arch Biochem Biophys, 1991 Oct. PMID 1898092
    4. Coenzyme A- and NADH-dependent esterase activity of methylmalonate semialdehyde dehydrogenase. Popov KM, et al. Biochim Biophys Acta, 1992 Feb 13. PMID 1540637
    5. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. Marcadier JL, et al. Orphanet J Rare Dis, 2013 Jul 9. PMID 23835272, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Suggest that MMSDH protein is present in the entire epididymis; its expression is regulated by androgen and the developmental status of the epididymis.
      Title: Epididymosome-mediated acquisition of MMSDH, an androgen-dependent and developmentally regulated epididymal sperm protein.
    Submit: New GeneRIF Correction

    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

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables malonate-semialdehyde dehydrogenase (acetylating) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables thiolester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in beta-alanine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in brown fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within brown fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in thymine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thymine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thymine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thymine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in thymine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in valine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in valine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in valine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in valine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in valine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    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
    aldehyde dehydrogenase family 6, subfamily A1
    malonate-semialdehyde dehydrogenase
    methylmalonate semialdehyde dehydrogenase
    methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
    NP_112319.2

    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_031057.2 → NP_112319.2  methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial precursor

      See identical proteins and their annotated locations for NP_112319.2

      Status: VALIDATED

      Source sequence(s)
      AA819519, CB760062, CK474421, CK476335, CV797088, DN948946, M93401
      UniProtKB/Swiss-Prot
      Q02253
      UniProtKB/TrEMBL
      A6JDW8, G3V7J0
      Related
      ENSRNOP00000015545.3, ENSRNOT00000015545.5
      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_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      109809092..109829725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02253.1 GenPept UniProtKB/Swiss-Prot:Q02253

    Gene LinkOut

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

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