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    Aldh4a1 aldehyde dehydrogenase 4 family, member A1 [ Mus musculus (house mouse) ]

    Gene ID: 212647, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Aldh4a1provided by MGI
    Official Full Name
    aldehyde dehydrogenase 4 family, member A1provided by MGI
    Primary source
    MGI:MGI:2443883
    See related
    Ensembl:ENSMUSG00000028737 AllianceGenome:MGI:2443883
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ahd1; P5cd; Ahd-1; Aldh4; P5cdh; Ssdh1; P5cdhl; P5cdhs; Aldh5a1; E330022C09; A930035F14Rik
    Summary
    Enables 1-pyrroline-5-carboxylate dehydrogenase activity. Predicted to be involved in proline catabolic process to glutamate. Predicted to act upstream of or within proline metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; integumental system; metanephros; and respiratory system. Human ortholog(s) of this gene implicated in hyperprolinemia type 2. Orthologous to human ALDH4A1 (aldehyde dehydrogenase 4 family member A1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver adult (RPKM 211.3), kidney adult (RPKM 197.0) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 D3; 4 70.79 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (139348404..139377002)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (139622871..139649691)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3 component n-recognin 4 Neighboring gene nuclear encoded tRNA valine 1 (anticodon AAC) Neighboring gene intermediate filament family orphan 2 Neighboring gene VISTA enhancer mm1506 Neighboring gene STARR-seq mESC enhancer starr_11836 Neighboring gene STARR-positive B cell enhancer ABC_E6246 Neighboring gene STARR-positive B cell enhancer ABC_E4694 Neighboring gene microRNA 7020 Neighboring gene taste receptor, type 1, member 2 Neighboring gene predicted gene, 42334

    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. Structural basis for the stereospecific inhibition of the dual proline/hydroxyproline catabolic enzyme ALDH4A1 by trans-4-hydroxy-L-proline. Bogner AN, et al. Protein Sci, 2021 Aug. PMID 34048122, Free PMC Article
    2. ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies. Lorenzo C, et al. Nature, 2021 Jan. PMID 33268892
    3. Structural basis of substrate selectivity of Δ(1)-pyrroline-5-carboxylate dehydrogenase (ALDH4A1): semialdehyde chain length. Pemberton TA, et al. Arch Biochem Biophys, 2013 Oct 1. PMID 23928095, Free PMC Article
    4. The three-dimensional structural basis of type II hyperprolinemia. Srivastava D, et al. J Mol Biol, 2012 Jul 13. PMID 22516612, Free PMC Article
    5. Immunolocalization of the Nuk receptor tyrosine kinase suggests roles in segmental patterning of the brain and axonogenesis. Henkemeyer M, et al. Oncogene, 1994 Apr. PMID 8134103

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for the stereospecific inhibition of the dual proline/hydroxyproline catabolic enzyme ALDH4A1 by trans-4-hydroxy-L-proline.
      Title: Structural basis for the stereospecific inhibition of the dual proline/hydroxyproline catabolic enzyme ALDH4A1 by trans-4-hydroxy-L-proline.
    2. ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.
      Title: ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.
    3. analysis of substrate selectivity of Delta(1)-pyrroline-5-carboxylate dehydrogenase (ALDH4A1)
      Title: Structural basis of substrate selectivity of Δ(1)-pyrroline-5-carboxylate dehydrogenase (ALDH4A1): semialdehyde chain length.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 

    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 MGI

    Function Evidence Code Pubs
    enables 1-pyrroline-5-carboxylate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-pyrroline-5-carboxylate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aldehyde dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding 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
    		  
    Process Evidence Code Pubs
    involved_in proline catabolic process to glutamate IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within proline metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
    Names
    L-glutamate gamma-semialdehyde dehydrogenase
    P5C dehydrogenase
    aldehyde dehydrogenase family 4 member A1
    NP_780647.3
    XP_006538756.1

    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_175438.4 → NP_780647.3  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_780647.3

      Status: VALIDATED

      Source sequence(s)
      AL831790, CA494657, CD354968, CF536864, CK332989
      Consensus CDS
      CCDS18848.1
      UniProtKB/Swiss-Prot
      B1AXW8, Q7TND0, Q8BXM3, Q8CHT0, Q8R0N1, Q8R1S2
      Related
      ENSMUSP00000043821.10, ENSMUST00000039818.10
      Conserved Domains (1) summary
      cd07123
      Location:31 → 552
      ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      139348404..139377002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538693.5 → XP_006538756.1  delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cd07123
      Location:31 → 485
      ALDH_F4-17_P5CDH; Delta(1)-pyrroline-5-carboxylate dehydrogenase, ALDH families 4 and 17
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CHT0.3 GenPept UniProtKB/Swiss-Prot:Q8CHT0

    Gene LinkOut

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

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