U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 56454, updated on 5-Aug-2022

Summary

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; AI429789; 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 cellular 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, Apr 2022]
Expression
Ubiquitous expression in large intestine adult (RPKM 35.4), placenta adult (RPKM 35.4) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Aldh18a1 in Genome Data Viewer
Location:
19; 19 C3
Exon count:
19
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (40624747..40662953, 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 protein tyrosine phosphatase 4a1 pseudogene Neighboring gene predicted gene, 27042 Neighboring gene tectonic family member 3

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 catalytic activity 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
PubMed 
enables glutamate-5-semialdehyde dehydrogenase activity ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
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
acts_upstream_of_or_within cellular 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 glutamate metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in ornithine biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in proline biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in response to temperature stimulus ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane 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
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

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_019698.2NP_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
    Q9R1P6, Q9Z110
    Related
    ENSMUSP00000025979.7, ENSMUST00000025979.13
    Conserved Domains (3) summary
    TIGR01092
    Location:64793
    P5CS; delta l-pyrroline-5-carboxylate synthetase
    cd07079
    Location:364767
    ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
    cd04256
    Location:63354
    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_153554.2NP_705782.2  delta-1-pyrroline-5-carboxylate synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC142101
    Consensus CDS
    CCDS57144.1
    UniProtKB/Swiss-Prot
    Q9Z110
    Related
    ENSMUSP00000135426.2, ENSMUST00000176939.8
    Conserved Domains (3) summary
    TIGR01092
    Location:64791
    P5CS; delta l-pyrroline-5-carboxylate synthetase
    cd07079
    Location:362765
    ALDH_F18-19_ProA-GPR; Gamma-glutamyl phosphate reductase (GPR), aldehyde dehydrogenase families 18 and 19
    cd04256
    Location:63352
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_036161643.1XP_036017536.1  delta-1-pyrroline-5-carboxylate synthase isoform X1

    Conserved Domains (1) summary
    TIGR01092
    Location:1425
    P5CS; delta l-pyrroline-5-carboxylate synthetase