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ALDH1L1

ALDH Gene Record


Summary for ALDH1L1
Trivial Names & Synonyms
Database Accession ID's
Molecular Features
Polymorphisms
Substrates and Kinetic Values
Tissue Expression & Cellular Localization
Reference List

ALDH1L1

Summary for ALDH1L1:

ALDH1L1 is a large cytosolic protein (~98.8 kDa) highly expressed in the liver, representing up to 1% of the total pool of soluble cell protein in the mammalian liver cytosol (12065246) , (3196754) .

ALDH1L1 is responsible for catalyzing the NAD(P)+-dependent oxidation of 10-formyltetrahydrofolate to tetrahydrofolate and CO2 (985432) and NAD(P)+-independent hydrolysis of 10-formyltetrahydrofolate to tetrahydrofolate and formate (4384443) .

Folates are essential for normal cell function and disruption of folate metabolism results in impaired cell division, altered protein expression, decreased DNA repair capability with accumulation of DNA damage, increased chromosomal aberrations and fragility, reduced growth rate and impairment of cell division (12065246) . Rapidly proliferating cancer cells in particular are susceptible to disruption of folate metabolism due to a significant requirement of folate pools for DNA/RNA synthesis necessary for rapid division.

ALDH1L1 is involved in two reactions of de novo purine biosynthesis, thus, several physiological functions have been suggested for this enzyme (16627483) including removal of excess pools of folate-activated one-carbon units (985432) , (8961940) , sequestration of cellular folate in the form of tetrahydrofolate (7840609) , and inhibition of purine synthesis and subsequent regulation of cell proliferation by depleting cellular 10-formyltetrahydrofolate pools required during two steps of this process (12065246) , (12805405) .

ALDH1L1 is required for purine biosynthesis thus its inhibition results in the depletion of intracellular 10-formyltetrahydrofolate followed by the loss of de novo purine biosynthesis. This diminishes DNA/RNA availability and ultimately induces an apoptotic cell death. Therefore downregulation of ALDH1L1 in tumors may serve to enhance proliferation (12065246) .

 
 

Trivial Names and Synonyms for ALDH1L1:

10-formyltetrahydrofolate dehydrogenase,    10-FTHFDH,    1810048F20Rik,    Fthfd,    MGC105431
 
 

Database Accession ID's for ALDH1L1:

Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Homo sapiens
(Human)
Institute Database Accession No.
NCBICCDS3034.1
NCBIEntrez Gene10840
NCBIGenBankNC_000003
NCBIOMIM600249
NCBIUniGene434435
HUGOHGNC3978
EBI, WTSIEnsembl - GeneViewENSG00000144908
Institute Database Accession No.
NCBIGenBankNM_012190
EBI, WTSIEnsembl - TransViewENST00000393434, ENST00000273450 , ENST00000393431
Institute Database Accession No.
NCBIAceViewALDH1L1.aApr07, ALDH1L1.jApr07, ALDH1L1.bApr07, ALDH1L1.hApr07
NCBIEntrez ProteinNP_036322
EBI, WTSIEnsembl - ProtViewENSP00000273450
EBI, WTSIEnsembl - TransViewENSP00000377081, ENSP00000377083
EBI, SIB, PIRUniProtO75891
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Mus musculus
(House mouse)
Institute Database Accession No.
NCBIEntrez Gene107747
NCBIGenBankNC_000072
NCBIUniGene30035
JLMGI1340024
EBI, WTSIEnsembl - GeneViewENSMUSG00000030088
Institute Database Accession No.
NCBIGenBankNM_027406
EBI, WTSIEnsembl - TransViewENSMUST00000032175, ENSMUST00000113522
Institute Database Accession No.
NCBIEntrez ProteinNP_081682
EBI, WTSIEnsembl - ProtViewENSMUSP00000032175
EBI, WTSIEnsembl - TransViewENSMUSP00000109150
EBI, SIB, PIRUniProtQ8R0Y6
 
Species Gene-related Accession ID's Transcript-related Accession ID's Protein-related Accession ID's
Rattus norvegicus
(Norway rat)
Institute Database Accession No.
NCBIEntrez Gene64392
NCBIGenBankNW_001084830
NCBIUniGene2328
MCWRGD621294
Institute Database Accession No.
NCBIGenBankNM_022547
Institute Database Accession No.
NCBIEntrez ProteinNP_071992
EBI, SIB, PIRUniProtP28037, Q5HZB2
 
 
 

Molecular Features for ALDH1L1:

Species  
Homo sapiens
(Human)
Chromosome Locus : 3 q 21.2 (- strand)
 

 
ALDH1L1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH1L1_v1 :   23 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 1
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
NM_012190 3125 NP_036322 902 98830 5.63 Click Here for Graphical and Tabular Details

ENST00000393434 3125 ENSP00000377083 902 98830 5.76 Click Here for Graphical and Tabular Details

ALDH1L1.bApr07 3192 ALDH1L1.bApr07 902 98830 5.63 Click Here for Graphical and Tabular Details

 
 
ALDH1L1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH1L1_v2 :   23 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 2
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000273450 3179 ENSP00000273450 912 99754 5.76 Click Here for Graphical and Tabular Details

ALDH1L1.aApr07 3180 ALDH1L1.aApr07 912 99754 5.63 Click Here for Graphical and Tabular Details

 
 
ALDH1L1_v3     (Alternative Splice Variant 3) Number of Exons for ALDH1L1_v3 :   22 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 3
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 3
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENST00000393431 2974 ENSP00000377081 505 55394 4.87 Click Here for Graphical and Tabular Details

 
 
ALDH1L1_v4     (Alternative Splice Variant 4) Number of Exons for ALDH1L1_v4 :   7 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 4
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 4
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH1L1.hApr07 3399 ALDH1L1.hApr07 333 36457 7.14 Click Here for Graphical and Tabular Details

 
 
ALDH1L1_v5     (Alternative Splice Variant 5) Number of Exons for ALDH1L1_v5 :   6 Click Here for Homo sapiens Transcript Sequences for Alternative Splice Variant 5
Click Here for Homo sapiens Peptide Sequences for Alternative Splice Variant 5
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ALDH1L1.jApr07 1152 ALDH1L1.jApr07 259 28582 6.07 Click Here for Graphical and Tabular Details

 
Species  
Mus musculus
(House mouse)
Chromosome Locus : 6 1 D (+ strand)
 

 
ALDH1L1_v1     (Alternative Splice Variant 1) Number of Exons for ALDH1L1_v1 :   23 Click Here for Mus musculus Transcript Sequences for Alternative Splice Variant 1
Click Here for Mus musculus Peptide Sequences for Alternative Splice Variant 1
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSMUST00000032175 3081 ENSMUSP00000032175 902 98710 5.71 Click Here for Graphical and Tabular Details

NM_027406 3098 NP_081682 902 98710 5.64 Click Here for Graphical and Tabular Details

 
 
ALDH1L1_v2     (Alternative Splice Variant 2) Number of Exons for ALDH1L1_v2 :   23 Click Here for Mus musculus Transcript Sequences for Alternative Splice Variant 2
Click Here for Mus musculus Peptide Sequences for Alternative Splice Variant 2
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
ENSMUST00000113522 3043 ENSMUSP00000109150 902 98710 5.71 Click Here for Graphical and Tabular Details

 
Species  
Rattus norvegicus
(Norway rat)
Chromosome Locus : 4 (+ strand)
 
ALDH1L1_v?     (Alternative Splice Variant Unknown or To Be Determined) Number of Exons : N/A Click Here for Rattus norvegicus Transcript Sequences for Unknown Variants
Click Here for Rattus norvegicus Peptide Sequences for Unknown Variants
Transcript Length
(b.p.'s)
Peptide Translation Length
(a.a.'s)
M.W.
(Da)
Isoelectric Point Comments
NM_022547 3109 NP_071992 902 99127 5.79 Click Here for Graphical and Tabular Details

Transcript : The transcript does not align to the genomic DNA due to numerous SNP, Insertion and Deletions. Further analysis is required for exon structure and sequence integrity.

 
 
 

Polymorphisms for ALDH1L1:

Currently Under Development
 
 

Substrates, Inhibitors and Enzyme Kinetics for ALDH1L1:

 
 

Tissue Expression & Cellular Localization for ALDH1L1:

Currently Under Development
 
 

Reference List for ALDH1L1:

ALDH1L1 Year Authors Title Journal Pubmed ID
2007 Anthony, Heintz
The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects. J Comp Neurol 17111379
 
2006 Anguera, Field, Perry, Ghandour, Chiang, Selhub, Shane, Stover
Regulation of folate-mediated one-carbon metabolism by 10-formyltetrahydrofolate dehydrogenase. J Biol Chem 16627483
 
2003 Oleinik, Krupenko
Ectopic expression of 10-formyltetrahydrofolate dehydrogenase in A549 cells induces G1 cell cycle arrest and apoptosis. Mol Cancer Res 12805405
 
2002 Krupenko, Oleinik
10-formyltetrahydrofolate dehydrogenase, one of the major folate enzymes, is down-regulated in tumor tissues and possesses suppressor effects on cancer cells. Cell Growth Differ 12065246
 
1996 Kim, Huang, Schirch, Schirch
Properties of tetrahydropteroylpentaglutamate bound to 10-formyltetrahydrofolate dehydrogenase. Biochemistry 8961940
 
1995 Wagner, Briggs, Horne, Cook
10-Formyltetrahydrofolate dehydrogenase: identification of the natural folate ligand, covalent labeling, and partial tryptic digestion. Arch Biochem Biophys 7840609
 
1993 Kuhar, Feng, Vidan, Ross, Hatten, Heintz
Changing patterns of gene expression define four stages of cerebellar granule neuron differentiation. Development 8223263
 
1988 Min, Shane, Stokstad
Identification of 10-formyltetrahydrofolate dehydrogenase-hydrolase as a major folate binding protein in liver cytosol. Biochim Biophys Acta 3196754
 
1976 Krebs, Hems, Tyler
The regulation of folate and methionine metabolism. Biochem J 985432
 
1968 Kutzbach, Stokstad
Partial purification of a 10-formyl-tetrahydrofolate: NADP oxidoreductase from mammalian liver. Biochem Biophys Res Commun 4384443
 
 
 

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