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Aliases for ALDH1L2 Gene

Aliases for ALDH1L2 Gene

  • Aldehyde Dehydrogenase 1 Family, Member L2 2 3
  • Mitochondrial 10-Formyltetrahydrofolate Dehydrogenase 2 3
  • Mitochondrial 10-FTHFDH 3 4
  • EC 1.5.1.6 4 63
  • MtFDH 3 4
  • Aldehyde Dehydrogenase Family 1 Member L2, Mitochondrial 3
  • Probable 10-Formyltetrahydrofolate Dehydrogenase ALDH1L2 3
  • 10-Formyltetrahydrofolate Dehydrogenase ALDH1L2 3
  • 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. GO annotations related to this gene include methyltransferase activity and formyltetrahydrofolate dehydrogenase activity. An important paralog of this gene is ALDH1A2.

Gene Wiki entry for ALDH1L2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1L2 Gene

Genomics for ALDH1L2 Gene

Regulatory Elements for ALDH1L2 Gene

Genomic Location for ALDH1L2 Gene

Start:
105,019,784 bp from pter
End:
105,084,577 bp from pter
Size:
64,794 bases
Orientation:
Minus strand

Genomic View for ALDH1L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ALDH1L2 Gene at MOPED

Post-translational modifications for ALDH1L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH1L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for ALDH1L2 Gene

Gene Families for ALDH1L2 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Suggested Antigen Peptide Sequences for ALDH1L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3SY69

UniProtKB/Swiss-Prot:

AL1L2_HUMAN :
  • Q3SY69
Domain:
  • Contains 1 acyl carrier domain.
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: 10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH

Enzyme Numbers (IUBMB) for ALDH1L2 Gene

Gene Ontology (GO) - Molecular Function for ALDH1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0008168 methyltransferase activity IEA --
GO:0016155 formyltetrahydrofolate dehydrogenase activity IBA --
GO:0016491 oxidoreductase activity --
genes like me logo Genes that share ontologies with ALDH1L2: view

Phenotypes for ALDH1L2 Gene

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

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ALDH1L2 Gene

Localization for ALDH1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1L2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH1L2 Gene COMPARTMENTS Subcellular localization image for ALDH1L2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ALDH1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with ALDH1L2: view

Pathways for ALDH1L2 Gene

SuperPathways for ALDH1L2 Gene

Superpath Contained pathways
1 One carbon pool by folate
genes like me logo Genes that share pathways with ALDH1L2: view

Pathways by source for ALDH1L2 Gene

1 KEGG pathway 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:0008152 metabolic process --
GO:0009058 biosynthetic process IEA --
GO:0009258 10-formyltetrahydrofolate catabolic process IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with ALDH1L2: view

Compounds for ALDH1L2 Gene

(3) HMDB Compounds for ALDH1L2 Gene

Compound Synonyms Cas Number PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6
Pantetheine 4'-phosphate
  • 4'-Phosphopantetheine
2226-71-3
genes like me logo Genes that share compounds with ALDH1L2: view

Transcripts for ALDH1L2 Gene

mRNA/cDNA for ALDH1L2 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALDH1L2 Gene

Aldehyde dehydrogenase 1 family, member L2:
Representative Sequences:

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 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 (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH1L2 Gene

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.
genes like me logo Genes that share expressions with ALDH1L2: view

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 35
  • 99.53 (n)
  • 99.67 (a)
ALDH1L2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1L2 35
  • 90.97 (n)
  • 94.8 (a)
ALDH1L2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1L2 35
  • 92.09 (n)
  • 96.1 (a)
ALDH1L2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1l2 35
  • 86.13 (n)
  • 92.31 (a)
Aldh1l2 16
Aldh1l2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1L2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aldh1l2 35
  • 84.94 (n)
  • 92.31 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 83 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
LOC100857360 35
  • 78.05 (n)
  • 83.84 (a)
lizard
(Anolis carolinensis)
Reptilia ALDH1L2 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l2 35
  • 77.11 (n)
  • 85.14 (a)
Str.2604 35
zebrafish
(Danio rerio)
Actinopterygii aldh1l2 35
  • 72.81 (n)
  • 80.61 (a)
aldh1l2 36
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009591 35
  • 58.81 (n)
  • 60.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8665 35
  • 58.71 (n)
  • 59.2 (a)
CG8665 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-3 36
  • 59 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 36
  • 42 (a)
ManyToMany
ALD5 36
  • 44 (a)
ManyToMany
ALD6 36
  • 42 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3698 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToMany
Species with no ortholog for ALDH1L2:
  • 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)

Paralogs for ALDH1L2 Gene

Selected SIMAP similar genes for ALDH1L2 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs16890 -- 105,021,036(-) CTGCT(A/C)CTGCC utr-variant-3-prime, nc-transcript-variant
rs16891 -- 105,021,016(-) CTGTC(A/C)TTATT utr-variant-3-prime, nc-transcript-variant
rs1129559 -- 105,020,255(-) NNNNT(A/G)GAAAT utr-variant-3-prime, nc-transcript-variant
rs1345093 -- 105,071,395(-) GCCAA(A/G)CCCCT intron-variant
rs1345094 -- 105,069,871(-) ACATT(C/T)GTATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899495 CNV Gain 21882294
nsv899498 CNV Gain 21882294
nsv832505 CNV Gain 17160897
esv270837 CNV Insertion 20981092
esv274115 CNV Insertion 20981092
esv1002429 CNV Insertion 20482838
esv1010041 CNV Deletion 20482838
nsv832506 CNV Gain 17160897

Relevant External Links for ALDH1L2 Gene

HapMap Linkage Disequilibrium report
ALDH1L2
Human Gene Mutation Database (HGMD)
ALDH1L2

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

Disorders for ALDH1L2 Gene

Relevant External Links for ALDH1L2

Genetic Association Database (GAD)
ALDH1L2
Human Genome Epidemiology (HuGE) Navigator
ALDH1L2
genes like me logo Genes that share disorders with ALDH1L2: view

No data available for UniProtKB/Swiss-Prot for ALDH1L2 Gene

Publications for ALDH1L2 Gene

  1. ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase. (PMID: 20498374) Krupenko N.I. … Krupenko S.A. (J. Biol. Chem. 2010) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ALDH1L2 Gene

Sources for ALDH1L2 Gene

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