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    aldh18a1 aldehyde dehydrogenase 18 family, member A1 [ Danio rerio (zebrafish) ]

    Gene ID: 557186, updated on 9-Dec-2024

    Summary

    Official Symbol
    aldh18a1provided by ZNC
    Official Full Name
    aldehyde dehydrogenase 18 family, member A1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-5602
    See related
    Ensembl:ENSDARG00000099579 AllianceGenome:ZFIN:ZDB-GENE-030131-5602
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    pycs; cb842; cb899; sb:cb881; wu:fa91f10; wu:fi05f11; wu:fi17d12
    Summary
    Predicted to enable glutamate-5-semialdehyde dehydrogenase activity. Predicted to be involved in L-proline biosynthetic process. Predicted to act upstream of or within phosphorylation and proline biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including central nervous system; endocrine system; eye; immature eye; and tail bud. 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]
    Orthologs
    NEW
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    Genomic context

    See aldh18a1 in Genome Data Viewer
    Location:
    chromosome: 12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 12 NC_007123.7 (30788904..30808933)
    105 previous assembly GRCz10 (GCF_000002035.5) 12 NC_007123.6 (30673986..30694031)

    Chromosome 12 - NC_007123.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member F3a Neighboring gene ectonucleoside triphosphate diphosphohydrolase 1 Neighboring gene crystallin, gamma MX Neighboring gene crystallin, gamma MX, like 2

    Genomic regions, transcripts, and products

    General gene information

    Markers

    Clone Names

    • MGC162616

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutamate 5-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutamate-5-semialdehyde dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    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
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within proline biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    delta-1-pyrroline-5-carboxylate synthase
    Names
    glutamate gamma-semialdehyde synthetase
    pyrroline-5-carboxylate synthetase
    NP_001077015.1
    XP_009305061.1
    XP_009305062.1
    XP_068080700.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001083546.3NP_001077015.1  delta-1-pyrroline-5-carboxylate synthase

      See identical proteins and their annotated locations for NP_001077015.1

      Status: VALIDATED

      Source sequence(s)
      CR354534, CR751608
      UniProtKB/TrEMBL
      A0A8M1NCI1, A4IGC8, F1QBM9
      Related
      ENSDARP00000137162.1, ENSDART00000160422.2
      Conserved Domains (3) summary
      TIGR01092
      Location:44773
      P5CS; delta l-pyrroline-5-carboxylate synthetase
      cd07079
      Location:344749
      ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
      cd04256
      Location:43334
      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_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007123.7 Reference GRCz11 Primary Assembly

      Range
      30788904..30808933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009306786.4XP_009305061.1  delta-1-pyrroline-5-carboxylate synthase isoform X1

      UniProtKB/TrEMBL
      A0A8M3B4R7
      Conserved Domains (3) summary
      TIGR01092
      Location:67796
      P5CS; delta l-pyrroline-5-carboxylate synthetase
      cd07079
      Location:367772
      ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
      cd04256
      Location:66357
      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. XM_009306787.4XP_009305062.1  delta-1-pyrroline-5-carboxylate synthase isoform X2

      UniProtKB/TrEMBL
      A0A8M3AYJ5
      Conserved Domains (3) summary
      TIGR01092
      Location:67794
      P5CS; delta l-pyrroline-5-carboxylate synthetase
      cd07079
      Location:365770
      ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
      cd04256
      Location:66355
      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 ...
    3. XM_068224599.1XP_068080700.1  delta-1-pyrroline-5-carboxylate synthase isoform X3