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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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