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

    Gene ID: 56454, updated on 9-Dec-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, Dec 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 (36) 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

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