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Aldh18a1 aldehyde dehydrogenase 18 family, member A1 [ Mus musculus (house mouse) ]

Gene ID: 56454, updated on 27-Nov-2024

Summary

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Official Symbol
Aldh18a1provided by MGI
Official Full Name
aldehyde dehydrogenase 18 family, member A1provided by MGI
Primary source
MGI:MGI:1888908
See related
Ensembl:ENSMUSG00000025007 AllianceGenome:MGI:1888908
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
Pycs; 2810433K04Rik
Summary
Enables glutamate 5-kinase activity. Predicted to be involved in alpha-amino acid metabolic process and response to temperature stimulus. Predicted to act upstream of or within amino acid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; cardiovascular system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in cataract; cutis laxa (multiple); enterocele; and hereditary spastic paraplegia (multiple). Orthologous to human ALDH18A1 (aldehyde dehydrogenase 18 family member A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in large intestine adult (RPKM 35.4), placenta adult (RPKM 35.4) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Aldh18a1 in Genome Data Viewer
Location:
19 C3; 19 34.25 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (40538701..40576907, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (40550257..40588463, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A930028N01 gene Neighboring gene predicted gene 5693 Neighboring gene sorbin and SH3 domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_46134 Neighboring gene STARR-positive B cell enhancer mm9_chr19:40582986-40583287 Neighboring gene STARR-positive B cell enhancer ABC_E8749 Neighboring gene protein tyrosine phosphatase 4a1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E11675 Neighboring gene STARR-positive B cell enhancer ABC_E7650 Neighboring gene STARR-positive B cell enhancer ABC_E1977 Neighboring gene predicted gene, 27042 Neighboring gene tectonic family member 3

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. Inhibiting both proline biosynthesis and lipogenesis synergistically suppresses tumor growth. Liu M, et al. J Exp Med, 2020 Mar 2. PMID 31961917, Free PMC Article
  2. Genetic analysis of Pycr1 and Pycr2 in mice. Stum MG, et al. Genetics, 2021 May 17. PMID 33734376, Free PMC Article
  3. Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. Hu CA, et al. J Biol Chem, 1999 Mar 5. PMID 10037775
  4. The Tip60/Ep400 chromatin remodeling complex impacts basic cellular functions in cranial neural crest-derived tissue during early orofacial development. Gehlen-Breitbach S, et al. Int J Oral Sci, 2023 Apr 6. PMID 37024457, Free PMC Article
  5. 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

See all (35) 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 (4) 
  • Targeted (1) 

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

  • MGC32233

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables glutamate 5-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glutamate 5-kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables glutamate-5-semialdehyde dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate-5-semialdehyde dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
  
enables glutamate-5-semialdehyde dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in L-proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within amino acid biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in citrulline biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in citrulline biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glutamate metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in glutamate metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ornithine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ornithine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in proline biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in proline biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to temperature stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in response to temperature stimulus ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial membrane ISO
Inferred from Sequence Orthology
more info
  
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
  

General protein information

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Preferred Names
delta-1-pyrroline-5-carboxylate synthase
Names
P5CS
aldehyde dehydrogenase family 18 member A1
delta-1-pyrroline-5-carboxylate synthetase
glutamate gamma-semialdehyde synthetase
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
NP_062672.2
NP_705782.2
XP_036017536.1

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_019698.2 → NP_062672.2  delta-1-pyrroline-5-carboxylate synthase isoform 1

    See identical proteins and their annotated locations for NP_062672.2

    Status: VALIDATED

    Source sequence(s)
    AI509928, AK151072, BB839822, BY126398
    Consensus CDS
    CCDS29803.1
    UniProtKB/Swiss-Prot
    Q8BGM2, Q9R1P6, Q9Z110
    UniProtKB/TrEMBL
    Q3TWN8
    Related
    ENSMUSP00000025979.7, ENSMUST00000025979.13
    Conserved Domains (3) summary
    TIGR01092
    Location:64 → 793
    P5CS; delta l-pyrroline-5-carboxylate synthetase
    cd07079
    Location:364 → 767
    ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
    cd04256
    Location:63 → 354
    AAK_P5CS_ProBA; AAK_P5CS_ProBA: Glutamate-5-kinase (G5K) domain of the bifunctional delta 1-pyrroline-5-carboxylate synthetase (P5CS), composed of an N-terminal G5K (ProB) and a C-terminal glutamyl 5- phosphate reductase (G5PR, ProA), the first and second enzyme ...

  2. NM_153554.2 → NP_705782.2  delta-1-pyrroline-5-carboxylate synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC142101
    Consensus CDS
    CCDS57144.1
    UniProtKB/TrEMBL
    Q3TWN8
    Related
    ENSMUSP00000135426.2, ENSMUST00000176939.8
    Conserved Domains (3) summary
    TIGR01092
    Location:64 → 791
    P5CS; delta l-pyrroline-5-carboxylate synthetase
    cd07079
    Location:362 → 765
    ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
    cd04256
    Location:63 → 352
    AAK_P5CS_ProBA; AAK_P5CS_ProBA: Glutamate-5-kinase (G5K) domain of the bifunctional delta 1-pyrroline-5-carboxylate synthetase (P5CS), composed of an N-terminal G5K (ProB) and a C-terminal glutamyl 5- phosphate reductase (G5PR, ProA), the first and second enzyme ...

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_000085.7 Reference GRCm39 C57BL/6J

    Range
    40538701..40576907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161643.1 → XP_036017536.1  delta-1-pyrroline-5-carboxylate synthase isoform X1

    Conserved Domains (1) summary
    TIGR01092
    Location:1 → 425
    P5CS; delta l-pyrroline-5-carboxylate synthetase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Z110.2 GenPept UniProtKB/Swiss-Prot:Q9Z110

Gene LinkOut

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