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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. Gene Ontology (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

Additional gene information for ALDH1L1 Gene

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

Genomics for ALDH1L1 Gene

GeneHancer (GH) Regulatory Elements for ALDH1L1 Gene

Promoters and enhancers for ALDH1L1 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
GH03I126178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.4 +17.8 17762 3.6 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 RARA YY1 ZNF335 ZNF23 ALDH1L1-AS2 ALDH1L1 KLF15 GC03P126153
GH03I126198 Enhancer 0.7 ENCODE 555.8 -0.5 -497 0.4 CTCF ATF1 ARID4B BACH1 CEBPG ZNF644 RAD21 YY1 ZNF766 GATA3 ALDH1L1 ALDH1L1-AS2 LOC105374086 GC03P126153
GH03I126353 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 -157.8 -157779 5.5 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 KLF15 LOC101927056 ALDH1L1 OR7E29P CFAP100 UROC1 LOC105374088
GH03I126266 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.9 -69.9 -69919 3.4 ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 FOS ATF7 RXRA ENSG00000250934 KLF15 CCDC37-AS1 CFAP100 ALDH1L1 ALDH1L1-AS2 ENPP7P4 ENSG00000251448 GC03P126153
GH03I126207 Enhancer 1.1 Ensembl ENCODE 6.5 -10.6 -10606 1.9 ZNF2 FOS YY2 SMARCB1 ZNF518A ZNF610 GLIS1 HNF4A SP7 ZBTB21 KLF15 ALDH1L1-AS2 ALDH1L1 LOC105374086 GC03P126153
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH1L1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ALDH1L1 Gene

Genomic Locations for ALDH1L1 Gene
chr3:126,103,561-126,197,994
(GRCh38/hg38)
Size:
94,434 bases
Orientation:
Minus strand
chr3:125,822,408-125,916,837
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for ALDH1L1 Gene

Domains & Families for ALDH1L1 Gene

Gene Families for ALDH1L1 Gene

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

Graphical View of Domain Structure for InterPro Entry

O75891

UniProtKB/Swiss-Prot:

AL1L1_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 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

Phenotypes From GWAS Catalog 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,EXP --
GO:0016155 formyltetrahydrofolate dehydrogenase activity IBA --
GO:0016491 oxidoreductase activity IEA --
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

Clone Products

No data available for Human Phenotype Ontology , 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
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 ALDH1L1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA,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:0008152 metabolic process IEA --
GO:0009058 biosynthetic process IEA --
GO:0009258 10-formyltetrahydrofolate catabolic process IEA,TAS --
GO:0046655 folic acid metabolic process TAS --
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
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0
Tetrahydrofolic acid Nutra Target, cofactor 0

(5) Additional Compounds for ALDH1L1 Gene - From: Novoseek and HMDB

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ALDH1L1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Pancreas(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with ALDH1L1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ALDH1L1 33
  • 97.39 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aldh1l1 33 16 34
  • 86.99 (n)
rat
(Rattus norvegicus)
Mammalia Aldh1l1 33
  • 86.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1L1 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1L1 33 34
  • 85.96 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH1L1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1l1 33
  • 72.58 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh1l1 33 34
  • 70.25 (n)
Dr.12971 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9055 33
fruit fly
(Drosophila melanogaster)
Insecta CG8665 34
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alh-3 33 34
  • 58.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD5 34
  • 46 (a)
ManyToMany
ALD4 34
  • 43 (a)
ManyToMany
ALD6 34
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs768309358 A colorectal cancer sample 126,131,475(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs1000006942 -- 126,112,373(-) C/G/T intron_variant
rs1000032308 -- 126,140,806(-) G/A intron_variant
rs1000104090 -- 126,178,047(-) A/G intron_variant
rs1000220539 -- 126,161,899(-) G/A intron_variant

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
methanol poisoning
pilocytic astrocytoma
  • grade i astrocytic tumor
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH1L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 VL … Calle EE (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 22 44 58
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 44 58
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58

Products for ALDH1L1 Gene

Sources for ALDH1L1 Gene

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