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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
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:40538701-40576907 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 19, 34.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    324 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1888908
protein coding gene Chr19:40538701-40576907 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025112
protein coding gene Chr19:39762425-39804576 (-)
A/J MGP_AJ_G0025089
protein coding gene Chr19:37824799-37863051 (-)
AKR/J MGP_AKRJ_G0025057
protein coding gene Chr19:39117283-39155676 (-)
BALB/cJ MGP_BALBcJ_G0025083
protein coding gene Chr19:37915388-37954288 (-)
C3H/HeJ MGP_C3HHeJ_G0024843
protein coding gene Chr19:39260240-39298466 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025527
protein coding gene Chr19:40839998-40884194 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022940
protein coding gene Chr19:37238059-37273772 (-)
CAST/EiJ MGP_CASTEiJ_G0024308
protein coding gene Chr19:38891364-38927472 (-)
CBA/J MGP_CBAJ_G0024823
protein coding gene Chr19:42835238-42876787 (-)
DBA/2J MGP_DBA2J_G0024955
protein coding gene Chr19:37729069-37768799 (-)
FVB/NJ MGP_FVBNJ_G0024916
protein coding gene Chr19:37481847-37520086 (-)
LP/J MGP_LPJ_G0025041
protein coding gene Chr19:39802451-39842387 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024947
protein coding gene Chr19:42531795-42572686 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025584
protein coding gene Chr19:39137154-39186328 (-)
PWK/PhJ MGP_PWKPhJ_G0024058
protein coding gene Chr19:37571934-37612869 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023861
protein coding gene Chr19:37878418-37914896 (-)
WSB/EiJ MGP_WSBEiJ_G0024378
protein coding gene Chr19:39308852-39348709 (-)



Homology
more
  • Human Ortholog
    ALDH18A1, aldehyde dehydrogenase 18 family member A1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH18A1, aldehyde dehydrogenase 18 family member A1
  • Synonyms
    ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
  • Links
    NCBI Gene ID: 5832
    neXtProt AC: NX_P54886
    UniProt: P54886

  • Chr Location
    10q24.1; chr10:95605941-95656711 (-)  GRCh38

Human Diseases
more
  • Diseases
    8 with human ALDH18A1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Heterozygotes fed a high-fat diet show mild, multifocal mixed inflammatory cell infiltration with mild fibrosis and distortion of adipocytes in the hypodermal fat layer.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56454 NCBI Gene Model | MGI Sequence Detail 38207 C57BL/6J ±  kb
    transcript NM_019698 RefSeq | MGI Sequence Detail 3544 C57BL/6  
    polypeptide Q9Z110 UniProt | EBI | MGI Sequence Detail 795 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 124
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917219, MGI:2147532
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 4
      Gene Ontology 8
      Phenotypes 12
    • 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:338182 Gehlen-Breitbach S, et al., The Tip60/Ep400 chromatin remodeling complex impacts basic cellular functions in cranial neural crest-derived tissue during early orofacial development. Int J Oral Sci. 2023 Apr 6;15(1):16

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory