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Aldh18a1 Gene Detail
Summary
  • Symbol
    Aldh18a1
  • Name
    aldehyde dehydrogenase 18 family, member A1
  • Synonyms
    2810433K04Rik, Pycs
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888908
    NCBI Gene: 56454
Location & Maps
more
  • Sequence Map
    Chr19:40550257-40588463 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38207 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 34.25 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ALDH18A1, aldehyde dehydrogenase 18 family member A1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ALDH18A1, aldehyde dehydrogenase 18 family member A1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9A, SPG9B
  • Links
    NCBI Gene ID: 5832
    neXtProt AC: NX_P54886

  • Chr Location
    10q24.3; chr10:95605929-95656810 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with human ALDH18A1 associations

Human Disease Mouse Models
       Cutis Laxa, Autosomal Dominant 3; ADCL3   OMIM: 616603
Cutis Laxa, Autosomal Recessive, Type IIIA; ARCL3A   OMIM: 219150
Spastic Paraplegia 9a, Autosomal Dominant; SPG9A   OMIM: 601162
Spastic Paraplegia 9b, Autosomal Recessive; SPG9B   OMIM: 616586
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026289 VEGA Gene Model | MGI Sequence Detail 38207 C57BL/6J ±  kb
transcript OTTMUST00000065028 VEGA | MGI Sequence Detail 3527 Not Applicable  
polypeptide OTTMUSP00000032356 VEGA | MGI Sequence Detail 795 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    324 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000003919 delta-1-pyrroline-5-carboxylate synthase
  • EC
  • InterPro Domains
    IPR016163 Aldehyde dehydrogenase, C-terminal
    IPR015590 Aldehyde dehydrogenase domain
    IPR016162 Aldehyde dehydrogenase N-terminal domain
    IPR016161 Aldehyde/histidinol dehydrogenase
    IPR001048 Aspartate/glutamate/uridylate kinase
    IPR005766 Delta l-pyrroline-5-carboxylate synthetase
    IPR020593 Gamma-glutamyl phosphate reductase GPR, conserved site
    IPR019797 Glutamate 5-kinase, conserved site
    IPR005715 Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase
    IPR001057 Glutamate/acetylglutamate kinase
    IPR000965 GPR domain
Molecular
Reagents
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  • All nucleic 121
    cDNA 121

    Microarray probesets 5
Other
Accession IDs
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MGI:1917219, MGI:2147532
References
more
  • Summaries
    All 37
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 7
  • Earliest
    J:62501 Hu CA, et al., Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition. J Biol Chem. 1999 Mar 5;274(10):6754-62
  • Latest
    J:232539 DiTommaso T, et al., Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS Genet. 2014 Oct;10(10):e1004705

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory