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Aliases for ALDH1L1 Gene

Aliases for ALDH1L1 Gene

  • Aldehyde Dehydrogenase 1 Family Member L1 2 3 5
  • Cytosolic 10-Formyltetrahydrofolate Dehydrogenase 2 3
  • 10-FTHFDH 3 4
  • FTHFD 3 4
  • FDH 3 4
  • Aldehyde Dehydrogenase 1 Family, Member L1 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 Pilocytic Astrocytoma. Among its related pathways are One carbon pool by folate and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L2.

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

Regulatory Elements for ALDH1L1 Gene

Enhancers for ALDH1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ALDH1L1 on UCSC Golden Path with GeneCards custom track

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

Genes around ALDH1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 EXP 20498374
GO:0005515 protein binding IEA --
GO:0016155 formyltetrahydrofolate dehydrogenase activity IBA --
GO:0016742 hydroxymethyl-, formyl- and related transferase activity IEA --
genes like me logo Genes that share ontologies with ALDH1L1: view
genes like me logo Genes that share phenotypes with ALDH1L1: view

Animal Models for ALDH1L1 Gene

MGI Knock Outs for ALDH1L1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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 3
mitochondrion 3
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ALDH1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
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

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

No data available for SIGNOR curated interactions for ALDH1L1 Gene

Drugs & Compounds for ALDH1L1 Gene

(4) Drugs for ALDH1L1 Gene - From: DrugBank, HMDB, and Novoseek

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

(5) 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
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

Inhibitory RNA Products

Clone Products

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, MaxQB, and MOPED for ALDH1L1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH1L1 Gene:

ALDH1L1

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

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 34
  • 85.96 (n)
  • 90.8 (a)
ALDH1L1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1l1 34
  • 86.99 (n)
  • 92.35 (a)
Aldh1l1 16
Aldh1l1 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH1L1 34
  • 97.39 (n)
  • 97.39 (a)
rat
(Rattus norvegicus)
Mammalia Aldh1l1 34
  • 86.66 (n)
  • 91.24 (a)
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ALDH1L1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1L1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l1 34
  • 72.58 (n)
  • 77.94 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh1l1 34
  • 70.25 (n)
  • 76.61 (a)
Dr.12971 34
aldh1l1 35
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9055 34
fruit fly
(Drosophila melanogaster)
Insecta CG8665 35
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-3 34
  • 58.09 (n)
  • 60.4 (a)
alh-3 35
  • 59 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD4 35
  • 43 (a)
ManyToMany
ALD5 35
  • 46 (a)
ManyToMany
ALD6 35
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
Species where no ortholog for ALDH1L1 was found in the sources mined by GeneCards:
  • 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
rs768309358 A colorectal cancer sample 126,131,475(+) CACCC(A/G)CATCC intron-variant, reference, missense
rs3796191 - 126,153,541(+) GCACC(A/G)GGCCT intron-variant, nc-transcript-variant, reference, missense
rs2886059 - 126,146,923(-) AGAGT(G/T)TTTGG nc-transcript-variant, reference, missense
rs9282691 - 126,136,822(-) GGGGG(A/C)GTTCG nc-transcript-variant, reference, missense
rs9282692 - 126,136,802(-) AGGGC(A/G)CCAAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv8545n54 CNV loss 21841781
dgv8546n54 CNV loss 21841781
esv23630 CNV loss 19812545
esv23981 CNV loss 19812545
esv2678139 CNV deletion 23128226
esv2725864 CNV deletion 23290073
esv2725865 CNV deletion 23290073
esv3597675 CNV loss 21293372
esv7912 OTHER inversion 19470904
nsv1007256 CNV gain 25217958
nsv1011457 CNV gain 25217958
nsv3985 CNV deletion 18451855
nsv470871 CNV loss 18288195
nsv520037 CNV gain+loss 19592680
nsv524971 CNV loss 19592680
nsv591465 CNV gain 21841781
nsv591496 CNV loss 21841781
nsv829716 CNV gain+loss 17160897
nsv955334 CNV deletion 24416366
nsv955335 CNV duplication 24416366

Variation tolerance for ALDH1L1 Gene

Residual Variation Intolerance Score: 81.3% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1L1

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

Disorders for ALDH1L1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALDH1L1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
methanol poisoning
pilocytic astrocytoma
  • grade i astrocytic tumor
congenital hydrocephalus
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards

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. 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 22 46 65
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey L.T. … Malats N. (Eur. Urol. 2010) 3 46 65
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 65
  4. Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. (PMID: 19936946) Hazra A. … Ogino S. (Cancer Causes Control 2010) 3 46 65
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 65

Products for ALDH1L1 Gene

Sources for ALDH1L1 Gene

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