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Aldh1l1 Gene Detail
Summary
  • Symbol
    Aldh1l1
  • Name
    aldehyde dehydrogenase 1 family, member L1
  • Synonyms
    1810048F20Rik, Fthfd
  • Feature Type
    protein coding gene
  • IDs
    MGI:1340024
    NCBI Gene: 107747
  • Alliance
    gene page
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:90527751-90576153 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 40.16 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1525 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1340024
 protein coding gene Chr6:90463409-90577185 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031039
 protein coding gene Chr6:92018786-92146711 (+)
A/J MGP_AJ_G0031007
 protein coding gene Chr6:88518416-88636231 (+)
AKR/J MGP_AKRJ_G0030939
 protein coding gene Chr6:90996671-91109493 (+)
BALB/cJ MGP_BALBcJ_G0031019
 protein coding gene Chr6:88464632-88585974 (+)
C3H/HeJ MGP_C3HHeJ_G0030689
 protein coding gene Chr6:93336684-93452357 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031478
 protein coding gene Chr6:94443921-94566158 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028647
 protein coding gene Chr6:86573750-86621578 (+)
CAST/EiJ MGP_CASTEiJ_G0030126
 protein coding gene Chr6:91101731-91219506 (+)
CBA/J MGP_CBAJ_G0030705
 protein coding gene Chr6:97971926-98098936 (+)
DBA/2J MGP_DBA2J_G0030858
 protein coding gene Chr6:87711908-87827662 (+)
FVB/NJ MGP_FVBNJ_G0030812
 protein coding gene Chr6:86912869-87026580 (+)
LP/J MGP_LPJ_G0030938
 protein coding gene Chr6:91995129-92114971 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030846
 protein coding gene Chr6:102056234-102175776 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031505
 protein coding gene Chr6:90831124-90948634 (+)
PWK/PhJ MGP_PWKPhJ_G0029842
 protein coding gene Chr6:86656691-86772335 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029671
 protein coding gene Chr6:89728612-89851973 (+)
WSB/EiJ MGP_WSBEiJ_G0030210
 protein coding gene Chr6:91297868-91412812 (+)



Homology
more
  • Human Ortholog
    ALDH1L1, aldehyde dehydrogenase 1 family member L1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH1L1, aldehyde dehydrogenase 1 family member L1
  • Synonyms
    10-fTHF, 10-FTHFDH, FDH, FTHFD
  • Links
    NCBI Gene ID: 10840
    neXtProt AC: NX_O75891
    UniProt: O75891

  • Chr Location
    3q21.3; chr3:126103562-126197994 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    30 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 null allele exhibit folate deficiency and impaired glycine metabolism with a decrease in glycine and glycine conjugates in the liver.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    10
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1063
  • Tissues
    211
  • cDNA Data
    150
  • Literature Summary
    55
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107747 NCBI Gene Model | MGI Sequence Detail 48403 C57BL/6J ±  kb
    transcript NM_027406 RefSeq | MGI Sequence Detail 3139 C57BL/6  
    polypeptide Q8R0Y6 UniProt | EBI | MGI Sequence Detail 902 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000003924 10-formyltetrahydrofolate dehydrogenase
      (term hierarchy)
    • EC
      1.5.1.6
    • InterPro Domains
      IPR011407 10-formyltetrahydrofolate dehydrogenase
      IPR036736 ACP-like superfamily
      IPR016163 Aldehyde dehydrogenase, C-terminal
      IPR016160 Aldehyde dehydrogenase, cysteine active site
      IPR015590 Aldehyde dehydrogenase domain
      IPR029510 Aldehyde dehydrogenase, glutamic acid active site
      IPR016162 Aldehyde dehydrogenase, N-terminal
      IPR016161 Aldehyde/histidinol dehydrogenase
      IPR005793 Formyl transferase, C-terminal
      IPR037022 Formyl transferase, C-terminal domain superfamily
      IPR011034 Formyl transferase-like, C-terminal domain superfamily
      IPR002376 Formyl transferase, N-terminal
      IPR036477 Formyl transferase, N-terminal domain superfamily
      IPR009081 Phosphopantetheine binding ACP domain
      IPR001555 Phosphoribosylglycinamide formyltransferase, active site
    • GlyGen
      Q8R0Y6 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 151
      cDNA 150
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917624
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 55
      Gene Ontology 10
      Phenotypes 30
    • Earliest
      J:21726 Champion KM, et al., Identification of a heritable deficiency of the folate-dependent enzyme 10-formyltetrahydrofolate dehydrogenase in mice. Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11338-42
    • Latest
      J:358018 Zhang Y, et al., Astrocyte allocation during brain development is controlled by Tcf4-mediated fate restriction. EMBO J. 2024 Nov;43(21):5114-5140
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory