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Aliases for ALDH1L1 Gene

Aliases for ALDH1L1 Gene

  • Aldehyde Dehydrogenase 1 Family, Member L1 2 3
  • 10-FTHFDH 3 4
  • FTHFD 3 4
  • FDH 3 4
  • Cytosolic 10-Formyltetrahydrofolate Dehydrogenase 2
  • 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 Folate-Alcohol and Cancer Pathway. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) 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

Chromosome:
3
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

No data available for DME Specific Peptides for ALDH1L1 Gene

Domains & Families for ALDH1L1 Gene

Gene Families for ALDH1L1 Gene

Graphical View of Domain Structure for InterPro Entry

O75891

UniProtKB/Swiss-Prot:

AL1L1_HUMAN :
  • Contains 1 acyl carrier domain.
  • In the N-terminal section; belongs to the GART family.
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
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 Targets 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
extracellular 5
cytosol 2
mitochondrion 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 & Interactions for ALDH1L1 Gene

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

Pathways by source 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

No data available for SIGNOR curated interactions for ALDH1L1 Gene

Drugs & Compounds for ALDH1L1 Gene

(2) Drugs for ALDH1L1 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Folate Nutra 2851

(7) Additional Compounds for ALDH1L1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
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
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

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x8.0) and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for ALDH1L1 Gene

This gene is overexpressed in Liver (30.5), Liver, secretome (10.7), and Salivary gland (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ALDH1L1: view

Primer Products

  • 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

In Situ Assay Products

No data available for Protein tissue co-expression partners for ALDH1L1 Gene

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
cow
(Bos Taurus)
Mammalia ALDH1L1 35
  • 85.96 (n)
  • 90.8 (a)
ALDH1L1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1l1 35
  • 86.99 (n)
  • 92.35 (a)
Aldh1l1 16
Aldh1l1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH1L1 35
  • 97.39 (n)
  • 97.39 (a)
rat
(Rattus norvegicus)
Mammalia Aldh1l1 35
  • 86.66 (n)
  • 91.24 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 92 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ALDH1L1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1L1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l1 35
  • 72.58 (n)
  • 77.94 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh1l1 35
  • 70.25 (n)
  • 76.61 (a)
Dr.12971 35
aldh1l1 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9055 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
rs4646738 -- 126,126,585(-) TGTGT(-/G)GGGGT intron-variant
rs4646739 -- 126,125,236(-) CTTCC(A/G)AGACC intron-variant
rs4646740 -- 126,117,990(-) TGGGG(C/G)TGGAG intron-variant
rs4646741 -- 126,117,960(-) GGCTG(C/T)GCCTG intron-variant
rs4646742 -- 126,117,953(-) CCTGG(A/G)ACATG 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

Variation tolerance for ALDH1L1 Gene

Residual Variation Intolerance Score: 81.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.99; 96.83% of all genes are more intolerant (likely to be disease-causing)

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

(2) MalaCards diseases for ALDH1L1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
methanol poisoning
congenital hydrocephalus
- elite association

Relevant External Links for ALDH1L1

Genetic Association Database (GAD)
ALDH1L1
Human Genome Epidemiology (HuGE) Navigator
ALDH1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH1L1
genes like me logo Genes that share disorders with ALDH1L1: view

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

Publications for ALDH1L1 Gene

  1. Leucovorin-induced resistance against FDH growth suppressor effects occurs through DHFR up-regulation. (PMID: 16712799) Oleinik N.V. … Krupenko S.A. (Biochem. Pharmacol. 2006) 23 25 67
  2. Regulation of folate-mediated one-carbon metabolism by 10-formyltetrahydrofolate dehydrogenase. (PMID: 16627483) Anguera M.C. … Stover P.J. (J. Biol. Chem. 2006) 23 25 67
  3. On the role of conserved histidine 106 in 10-formyltetrahydrofolate dehydrogenase catalysis: connection between hydrolase and dehydrogenase mechanisms. (PMID: 11320079) Krupenko S.A. … Wagner C. (J. Biol. Chem. 2001) 23 25 67
  4. A noncatalytic tetrahydrofolate tight binding site is on the small domain of 10-formyltetrahydrofolate dehydrogenase. (PMID: 10395731) Fu T.F. … Schirch V. (Arch. Biochem. Biophys. 1999) 23 25 67
  5. Aspartate 142 is involved in both hydrolase and dehydrogenase catalytic centers of 10-formyltetrahydrofolate dehydrogenase. (PMID: 10585460) Krupenko S.A. … Wagner C. (J. Biol. Chem. 1999) 23 25 67

Products for ALDH1L1 Gene

Sources for ALDH1L1 Gene

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