Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALDH1L1 Gene

Aliases for ALDH1L1 Gene

  • Aldehyde Dehydrogenase 1 Family, Member L1 2 3
  • FTHFD 3 4 6
  • Cytosolic 10-Formyltetrahydrofolate Dehydrogenase 2 3
  • 10-FTHFDH 3 4
  • FDH 3 4
  • Aldehyde Dehydrogenase Family 1 Member L1 4
  • 10-Formyltetrahydrofolate Dehydrogenase 3
  • Formyltetrahydrofolate Dehydrogenase 2
  • MER57B-ALDH1L1 3
  • EC 1.5.1.6 4
  • 10-FTHF 3

External Ids for ALDH1L1 Gene

Previous HGNC Symbols for ALDH1L1 Gene

  • FTHFD

Previous GeneCards Identifiers for ALDH1L1 Gene

  • GC03M127306
  • GC03M125822
  • GC03M123202

Summaries for ALDH1L1 Gene

Entrez Gene Summary for ALDH1L1 Gene

  • The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

GeneCards Summary for ALDH1L1 Gene

ALDH1L1 (Aldehyde Dehydrogenase 1 Family, Member L1) is a Protein Coding gene. Diseases associated with ALDH1L1 include methanol poisoning and congenital hydrocephalus. Among its related pathways are One carbon pool by folate and 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 ALDH1L1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1L1 Gene

Genomics for ALDH1L1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALDH1L1 Gene

Start:
126,103,561 bp from pter
End:
126,197,994 bp from pter
Size:
94,434 bases
Orientation:
Minus strand

Genomic View for ALDH1L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1L1 Gene

No data available for Regulatory Elements for ALDH1L1 Gene

Proteins for ALDH1L1 Gene

  • Protein details for ALDH1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75891-AL1L1_HUMAN
    Recommended name:
    Cytosolic 10-formyltetrahydrofolate dehydrogenase
    Protein Accession:
    O75891
    Secondary Accessions:
    • B4DG36
    • E9PBX3
    • Q68CS1
    • Q8TBP8

    Protein attributes for ALDH1L1 Gene

    Size:
    902 amino acids
    Molecular mass:
    98829 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ALDH1L1 Gene

    Alternative splice isoforms for ALDH1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH1L1 Gene

Proteomics data for ALDH1L1 Gene at MOPED

Post-translational modifications for ALDH1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ALDH1L1 Gene

Domains for ALDH1L1 Gene

Gene Families for ALDH1L1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Graphical View of Domain Structure for InterPro Entry

O75891

UniProtKB/Swiss-Prot:

AL1L1_HUMAN :
  • O75891
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 ALDH1L1: view

Function for ALDH1L1 Gene

Molecular function for ALDH1L1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH

Enzyme Numbers (IUBMB) for ALDH1L1 Gene

Gene Ontology (GO) - Molecular Function for ALDH1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 10204077
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0005515 protein binding --
GO:0008168 methyltransferase activity IEA --
GO:0016155 formyltetrahydrofolate dehydrogenase activity IBA --
genes like me logo Genes that share ontologies with ALDH1L1: view

Phenotypes for ALDH1L1 Gene

GenomeRNAi human phenotypes for ALDH1L1:
genes like me logo Genes that share phenotypes with ALDH1L1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALDH1L1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ALDH1L1 Gene

Localization for ALDH1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1L1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH1L1 Gene COMPARTMENTS Subcellular localization image for ALDH1L1 gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ALDH1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALDH1L1: view

Pathways for ALDH1L1 Gene

genes like me logo Genes that share pathways with ALDH1L1: view

Pathways by source for ALDH1L1 Gene

2 BioSystems pathways for ALDH1L1 Gene
1 KEGG pathway for ALDH1L1 Gene

Interacting Proteins for ALDH1L1 Gene

Gene Ontology (GO) - Biological Process for ALDH1L1 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 ALDH1L1: view

Compounds for ALDH1L1 Gene

(6) HMDB Compounds for ALDH1L1 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
N10-Formyl-THF
  • 10-formyl-THF
2800-34-2
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
Tetrahydrofolic acid
  • (6S)-Tetrahydrofolate
135-16-0

(1) Drugbank Compounds for ALDH1L1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Tetrahydrofolic acid
  • 5,6,7,8-tetrahydrofolate
135-16-0 target cofactor

(3) Novoseek inferred chemical compound relationships for ALDH1L1 Gene

Compound -log(P) Hits PubMed IDs
10-formyltetrahydrofolate 98.2 34
tetrahydrofolate 90.7 6
folate 73.2 4
genes like me logo Genes that share compounds with ALDH1L1: view

Transcripts for ALDH1L1 Gene

Unigene Clusters for ALDH1L1 Gene

Aldehyde dehydrogenase 1 family, member L1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALDH1L1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ALDH1L1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1L1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: - - - - - - -
SP5:
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - -
SP9:
SP10: - -
SP11: -
SP12:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c ^ 28
SP1: - - -
SP2: - - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ALDH1L1 Gene

GeneLoc Exon Structure for
ALDH1L1
ECgene alternative splicing isoforms for
ALDH1L1

Expression for ALDH1L1 Gene

mRNA expression in normal human tissues for ALDH1L1 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH1L1 Gene

This gene is overexpressed in Liver (8.0) and Kidney - Cortex (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH1L1 Gene

SOURCE GeneReport for Unigene cluster for ALDH1L1 Gene Hs.434435

mRNA Expression by UniProt/SwissProt for ALDH1L1 Gene

O75891-AL1L1_HUMAN
Tissue specificity: Highly expressed in liver, pancreas and kidney.
genes like me logo Genes that share expressions with ALDH1L1: view

In Situ Assay Products

Orthologs for ALDH1L1 Gene

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

Orthologs for ALDH1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1L1 35
  • 97.39 (n)
  • 97.39 (a)
cow
(Bos Taurus)
Mammalia ALDH1L1 35
  • 85.96 (n)
  • 90.8 (a)
ALDH1L1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aldh1l1 35
  • 86.99 (n)
  • 92.35 (a)
Aldh1l1 16
Aldh1l1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH1L1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1L1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1l1 35
  • 86.66 (n)
  • 91.24 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l1 35
  • 72.58 (n)
  • 77.94 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9055 35
zebrafish
(Danio rerio)
Actinopterygii aldh1l1 35
  • 70.25 (n)
  • 76.61 (a)
aldh1l1 36
  • 76 (a)
OneToOne
Dr.12971 35
fruit fly
(Drosophila melanogaster)
Insecta CG8665 36
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-3 35
  • 58.09 (n)
  • 60.4 (a)
alh-3 36
  • 59 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 36
  • 43 (a)
ManyToMany
ALD5 36
  • 46 (a)
ManyToMany
ALD6 36
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for ALDH1L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ALDH1L1 Gene

ENSEMBL:
Gene Tree for ALDH1L1 (if available)
TreeFam:
Gene Tree for ALDH1L1 (if available)

Paralogs for ALDH1L1 Gene

genes like me logo Genes that share paralogs with ALDH1L1: view

Variants for ALDH1L1 Gene

Sequence variations from dbSNP and Humsavar for ALDH1L1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs873696 -- 126,130,188(-) CTCGC(A/G)GTGCT intron-variant
rs1317682 -- 126,130,573(-) CACCC(A/G)GCCCT intron-variant
rs1348986 -- 126,164,514(-) gaggc(C/T)gtaat intron-variant
rs1447658 -- 126,145,566(-) TTTTA(C/T)GCTTA intron-variant
rs1562474 -- 126,132,026(-) TGTGA(C/T)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1L1 Gene

Variant ID Type Subtype PubMed ID
nsv829716 CNV Gain+Loss 17160897
nsv524971 CNV Loss 19592680
nsv877411 CNV Loss 21882294
nsv877412 CNV Loss 21882294
esv7912 OTHER Inversion 19470904
dgv5239n71 CNV Loss 21882294
nsv520037 CNV Gain+Loss 19592680
esv2725864 CNV Deletion 23290073
dgv5240n71 CNV Loss 21882294
nsv470871 CNV Loss 18288195
dgv5241n71 CNV Loss 21882294
dgv5242n71 CNV Loss 21882294
dgv5243n71 CNV Loss 21882294
esv23981 CNV Loss 19812545
dgv5244n71 CNV Loss 21882294
nsv877426 CNV Gain 21882294
nsv877428 CNV Loss 21882294
nsv877429 CNV Gain 21882294
esv23630 CNV Loss 19812545
esv2725865 CNV Deletion 23290073
esv2678139 CNV Deletion 23128226
nsv877430 CNV Gain 21882294
nsv3985 CNV Loss 18451855

Relevant External Links for ALDH1L1 Gene

HapMap Linkage Disequilibrium report
ALDH1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1L1 Gene

Disorders for ALDH1L1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ALDH1L1 Gene including...

Search for ALDH1L1 Gene in MalaCards »

(1) Novoseek inferred disease relationships for ALDH1L1 Gene

Disease -log(P) Hits PubMed IDs
cancer 10.7 5

Relevant External Links for ALDH1L1

Genetic Association Database (GAD)
ALDH1L1
Human Genome Epidemiology (HuGE) Navigator
ALDH1L1
genes like me logo Genes that share disorders with ALDH1L1: view

No data available for UniProtKB/Swiss-Prot for ALDH1L1 Gene

Publications for ALDH1L1 Gene

  1. Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence. (PMID: 17548676) Stevens V.L. … Calle E.E. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 23 48
  2. Structures of the hydrolase domain of human 10-formyltetrahydrofolate dehydrogenase and its complex with a substrate analogue. (PMID: 17057331) Kursula P. … Stenmark P. (Acta Crystallogr. D 2006) 4 23
  3. Ectopic expression of 10-formyltetrahydrofolate dehydrogenase in A549 cells induces G1 cell cycle arrest and apoptosis. (PMID: 12805405) Oleinik N.V. … Krupenko S.A. (Mol. Cancer Res. 2003) 3 23
  4. Isolation and characterization of cDNA clone for human liver 10-formyltetrahydrofolate dehydrogenase. (PMID: 10204077) Hong M. … Choe I.S. (Biochem. Mol. Biol. Int. 1999) 3 23
  5. FDH: an aldehyde dehydrogenase fusion enzyme in folate metabolism. (PMID: 18848533) Krupenko S.A. (Chem. Biol. Interact. 2009) 3 23

Products for ALDH1L1 Gene

Sources for ALDH1L1 Gene

Back to Top

Content