This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups betwee... See more...

Aliases for ALDH1L2 Gene

Aliases for ALDH1L2 Gene

  • Aldehyde Dehydrogenase 1 Family Member L2 2 3 5
  • Mitochondrial 10-Formyltetrahydrofolate Dehydrogenase 2 3 4
  • Mitochondrial 10-FTHFDH 3 4
  • EC 1.5.1.6 4 54
  • MtFDH 3 4
  • Aldehyde Dehydrogenase Family 1 Member L2, Mitochondrial 3
  • Probable 10-Formyltetrahydrofolate Dehydrogenase ALDH1L2 3
  • 10-Formyltetrahydrofolate Dehydrogenase ALDH1L2 3
  • Aldehyde Dehydrogenase 1 Family, Member L2 2
  • Aldehyde Dehydrogenase Family 1 Member L2 4

External Ids for ALDH1L2 Gene

Previous GeneCards Identifiers for ALDH1L2 Gene

  • GC12M103921
  • GC12M105417
  • GC12M102472

Summaries for ALDH1L2 Gene

Entrez Gene Summary for ALDH1L2 Gene

  • This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

GeneCards Summary for ALDH1L2 Gene

ALDH1L2 (Aldehyde Dehydrogenase 1 Family Member L2) is a Protein Coding gene. Among its related pathways are One carbon pool by folate and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L1.

Gene Wiki entry for ALDH1L2 Gene

Additional gene information for ALDH1L2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH1L2 Gene

Genomics for ALDH1L2 Gene

GeneHancer (GH) Regulatory Elements for ALDH1L2 Gene

Promoters and enhancers for ALDH1L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J105106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -1.5 -1464 5.2 SIN3A ZBTB40 SP1 SREBF1 SIX5 MLX POLR2A USF2 HCFC1 ZNF362 WASHC4 ALDH1L2 LOC414300 APPL2 RPL18AP3 ENSG00000257642 lnc-WASHC4-1 piR-55985-034
GH12J105082 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 753.9 +23.7 23743 2.6 POLR2A ZNF148 ZFX ZNF384 CEBPG RNF2 ZNF740 ZNF24 ZNF561 ZBTB20 ALDH1L2 HQ292168 WASHC4 C12orf75 RF00017-1239
GH12J104985 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +120.6 120642 2.8 SIN3A SP1 ZBTB6 POLR2A ZNF362 MYC NFYC HLF L3MBTL2 RAD21 C12orf45 HSALNG0093675 LOC105369952 SLC41A2 WASHC4 RPL18AP3 NFYB ALDH1L2 piR-37937
GH12J105036 Enhancer 0.6 Ensembl ENCODE 11.7 +69.9 69869 2.1 ZSCAN4 JUND JUNB BATF SLC41A2 ALDH1L2 CHST11 C12orf45 APPL2 piR-47150 NONHSAG012151.2
GH12J105056 Enhancer 0.6 Ensembl 11.2 +49.9 49942 1.4 HLF CEBPG IKZF2 CEBPB NFE2 ZNF580 JUNB BATF FOS ZNF146 C12orf75 ALDH1L2 NONHSAG012151.2 piR-47150 C12orf45
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH1L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH1L2 gene promoter:
  • AhR
  • Arnt
  • Bach1
  • CUTL1
  • Ik-2
  • Sp1

Genomic Locations for ALDH1L2 Gene

Genomic Locations for ALDH1L2 Gene
chr12:105,019,784-105,107,643
(GRCh38/hg38)
Size:
87,860 bases
Orientation:
Minus strand
chr12:105,413,562-105,478,355
(GRCh37/hg19)
Size:
64,794 bases
Orientation:
Minus strand

Genomic View for ALDH1L2 Gene

Genes around ALDH1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1L2 Gene

Proteins for ALDH1L2 Gene

  • Protein details for ALDH1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SY69-AL1L2_HUMAN
    Recommended name:
    Mitochondrial 10-formyltetrahydrofolate dehydrogenase
    Protein Accession:
    Q3SY69
    Secondary Accessions:
    • Q3SY68
    • Q68D62
    • Q6AI55
    • Q8N922

    Protein attributes for ALDH1L2 Gene

    Size:
    923 amino acids
    Molecular mass:
    101746 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI03936.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALDH1L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH1L2 Gene

Selected DME Specific Peptides for ALDH1L2 Gene

Q3SY69:
  • NEDVYMA
  • KPAQVTPLTALKFAEL
  • TINPTDG
  • GAVYTLALKTH
  • LPRHRGASAINWTL
  • KQSGFGKDLGE
  • TIPINQARPNRNLT
  • YNRFLFPEG
  • FWADDGLDTG
  • EDSTDFFK
  • NTYNKTDVAAPFGG
  • IPWNYPLMML
  • HGSIIYHPS
  • AACLAAGNT

Post-translational modifications for ALDH1L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ALDH1L2 Gene

Gene Families for ALDH1L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ALDH1L2 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial 10-formyltetrahydrofolate dehydrogenase (AL1L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SY69

UniProtKB/Swiss-Prot:

AL1L2_HUMAN :
  • In the N-terminal section; belongs to the GART family.
Family:
  • In the N-terminal section; belongs to the GART family.
  • In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily.
genes like me logo Genes that share domains with ALDH1L2: view

Function for ALDH1L2 Gene

Molecular function for ALDH1L2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-10-formyltetrahydrofolate + H2O + NADP(+) = (6S)-5,6,7,8-tetrahydrofolate + CO2 + H(+) + NADPH; Xref=Rhea:RHEA:10180, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57453, ChEBI:CHEBI:57454, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.6;.

Enzyme Numbers (IUBMB) for ALDH1L2 Gene

Phenotypes From GWAS Catalog for ALDH1L2 Gene

Gene Ontology (GO) - Molecular Function for ALDH1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA 21873635
GO:0016155 formyltetrahydrofolate dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
GO:0016742 hydroxymethyl-, formyl- and related transferase activity IEA --
genes like me logo Genes that share ontologies with ALDH1L2: view
genes like me logo Genes that share phenotypes with ALDH1L2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH1L2 Gene

Localization for ALDH1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1L2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH1L2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with ALDH1L2: view

Pathways & Interactions for ALDH1L2 Gene

genes like me logo Genes that share pathways with ALDH1L2: view

Pathways by source for ALDH1L2 Gene

Gene Ontology (GO) - Biological Process for ALDH1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0009058 biosynthetic process IEA --
GO:0009258 10-formyltetrahydrofolate catabolic process IEA --
GO:0046655 folic acid metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALDH1L2: view

No data available for SIGNOR curated interactions for ALDH1L2 Gene

Drugs & Compounds for ALDH1L2 Gene

(3) Drugs for ALDH1L2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Tetrahydrofolic acid Nutra 0

(5) Additional Compounds for ALDH1L2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolic acid
  • 10-Formyl-(6Rs)-tetrahydrofolic acid
  • 10-Formyl-H4pteglu1
  • 10-Formyl-tetrahydrofolate
2800-34-2
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Pantetheine 4'-phosphate
  • 4'-Phosphopantetheine
  • Pantotheine-4'-phosphate
  • Phosphopantetheine
  • PSH-4'-P
  • Pantetheine 4'-phosphoric acid
2226-71-3
genes like me logo Genes that share compounds with ALDH1L2: view

Transcripts for ALDH1L2 Gene

mRNA/cDNA for ALDH1L2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1L2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2: -

Relevant External Links for ALDH1L2 Gene

GeneLoc Exon Structure for
ALDH1L2
ECgene alternative splicing isoforms for
ALDH1L2

Expression for ALDH1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH1L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH1L2 Gene

This gene is overexpressed in Pancreas (x6.5).

Protein differential expression in normal tissues from HIPED for ALDH1L2 Gene

This gene is overexpressed in Bone marrow stromal cell (20.3), Salivary gland (15.9), and Pancreas (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH1L2 Gene



Protein tissue co-expression partners for ALDH1L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALDH1L2 Gene:

ALDH1L2

SOURCE GeneReport for Unigene cluster for ALDH1L2 Gene:

Hs.42572

mRNA Expression by UniProt/SwissProt for ALDH1L2 Gene:

Q3SY69-AL1L2_HUMAN
Tissue specificity: Highly expressed in pancreas, heart, brain and skeletal muscle.

Evidence on tissue expression from TISSUES for ALDH1L2 Gene

  • Liver(2.7)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with ALDH1L2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH1L2 Gene

Orthologs for ALDH1L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALDH1L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1L2 33 32
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1L2 33 32
  • 92.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1L2 33 32
  • 90.97 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1L2 33
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 89 (a)
OneToMany
-- 33
  • 78 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aldh1l2 17 33 32
  • 86.13 (n)
rat
(Rattus norvegicus)
Mammalia Aldh1l2 32
  • 84.94 (n)
chicken
(Gallus gallus)
Aves -- 33
  • 83 (a)
OneToMany
-- 33
  • 83 (a)
OneToMany
LOC100857360 32
  • 78.05 (n)
lizard
(Anolis carolinensis)
Reptilia ALDH1L2 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l2 32
  • 77.11 (n)
Str.2604 32
zebrafish
(Danio rerio)
Actinopterygii aldh1l2 33 32
  • 72.81 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009591 32
  • 58.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8665 33 32
  • 58.71 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-3 33
  • 59 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD5 33
  • 44 (a)
ManyToMany
ALD4 33
  • 42 (a)
ManyToMany
ALD6 33
  • 42 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 70 (a)
OneToMany
Cin.3698 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3698 32
Species where no ortholog for ALDH1L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH1L2 Gene

ENSEMBL:
Gene Tree for ALDH1L2 (if available)
TreeFam:
Gene Tree for ALDH1L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH1L2: view image

Paralogs for ALDH1L2 Gene

(11) SIMAP similar genes for ALDH1L2 Gene using alignment to 2 proteins:

  • AL1L2_HUMAN
  • H0YHN9_HUMAN

Pseudogenes.org Pseudogenes for ALDH1L2 Gene

genes like me logo Genes that share paralogs with ALDH1L2: view

Variants for ALDH1L2 Gene

Sequence variations from dbSNP and Humsavar for ALDH1L2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000138470 -- 105,023,349(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000176813 -- 105,083,719(-) T/A/C genic_upstream_transcript_variant, intron_variant
rs1000178141 -- 105,072,028(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000226014 -- 105,044,949(-) G/A/T genic_downstream_transcript_variant, intron_variant
rs1000247947 -- 105,076,676(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1L2 Gene

Variant ID Type Subtype PubMed ID
esv1002429 CNV insertion 20482838
esv1010041 CNV deletion 20482838
esv3306561 CNV mobile element insertion 20981092
esv3309843 CNV mobile element insertion 20981092
esv3442903 CNV insertion 20981092
nsv832505 CNV gain 17160897
nsv832506 CNV gain 17160897

Variation tolerance for ALDH1L2 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH1L2 Gene

Human Gene Mutation Database (HGMD)
ALDH1L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1L2 Gene

Disorders for ALDH1L2 Gene

Additional Disease Information for ALDH1L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ALDH1L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALDH1L2 Gene

Publications for ALDH1L2 Gene

  1. ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase. (PMID: 20498374) Krupenko NI … Krupenko SA (The Journal of biological chemistry 2010) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. GRWD1 regulates ribosomal protein L23 levels via the ubiquitin-proteasome system. (PMID: 29991511) Watanabe S … Fujita M (Journal of cell science 2018) 3 56

Products for ALDH1L2 Gene

Sources for ALDH1L2 Gene