ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10840
Gene name Gene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 1 family member L1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALDH1L1
Synonyms (NCBI Gene) Gene synonyms aliases
10-FTHFDH, 10-fTHF, FDH, FTHFD
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
Summary Summary of gene provided in NCBI Entrez 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 dehydrogenas
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT2170120 hsa-miR-1236 CLIP-seq
MIRT2384063 hsa-miR-4436b-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600249 3978 ENSG00000144908
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75891
Protein name Cytosolic 10-formyltetrahydrofolate dehydrogenase (10-FTHFDH) (FDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L1)
Protein function Cytosolic 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide (PubMed:19933275, PubMed:21238436). May also have an NADP(+)-dependent aldehyde
PDB 2BW0 , 2CFI , 2CQ8 , 7YJJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00551 Formyl_trans_N 1 → 180 Formyl transferase Domain
PF02911 Formyl_trans_C 204 → 310 Formyl transferase, C-terminal domain Domain
PF00550 PP-binding 325 → 391 Phosphopantetheine attachment site Domain
PF00171 Aldedh 430 → 898 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in liver, pancreas and kidney. {ECO:0000269|PubMed:20498374}.
Sequence 
MKIAVIGQSLFGQEVYCHLRKEGHEVVGVFTVPDKDGKADPLGLEAEKDGVPVFKYSRWR
AKGQALPDVVAKYQALGAELNVLPFCSQFIPMEIISAPRHGSIIYHPSLLPRHRGASAIN
WTLIHGDKKGGFSIFWADDGLDTGDLLLQKECEVLPDDTVSTLYNRFLFPEGIKGMVQAV
RLIAEGKAPRLPQPEEGATYEGIQKKETAKINWDQPAEAIHNWIRGNDKVPGAWTEACEQ
KLTFFNSTLNTSGLVPEGDALPIPGAHRPGVVTKAGLILFGNDDKMLLVKNIQLEDGKMI
LASNFFKGAASSVLELTEAELVTAEAVRSVWQRILPKVLEVEDSTDFFKSGAASVDVVRL
VEEVKELCDGLELENEDVYMASTFGDFIQLLVRKLRGDDEEGECSIDYVEMAVNKRTVRM
PHQLFIGGEFVDAEGAKTSETINPTDGSVICQVSLAQVTDVDKAVAAAKDAFENGRWGKI
SARDRGRLMYRLADLMEQHQEELATIEALDAGAVYTLALKTHVGMSIQTFRYFAGWCDKI
QGSTIPINQARPNRNLTLTRKEPVGVCGIIIPWNYPLMMLSWKTAACLAAGNTVVIKPAQ
VTPLTALKFAELTLKAGIPKGVVNVLPGSGSLVGQRLSDHPDVRKIGFTGSTEVGKHIMK
SCAISNVKKVSLELGGKSPLIIFADCDLNKAVQMGMSSVFFNKGENCIAAGRLFVEDSIH
DEFVRRVVEEVRKMKVGNPLDRDTDHGPQNHHAHLVKLMEYCQHGVKEGATLVCGGNQVP
RPGFFFEPTVFTDVEDHMFIAKEESFGPVMIISRFADGDLDAVLSRANATEFGLASGVFT
RDINKALYVSDKLQAGTVFVNTYNKTDVAAPFGGFKQSGFGKDLGEAALNEYLRVKTVTF
EY
Sequence length 902
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  One carbon pool by folate
Metabolic pathways 		  Metabolism of folate and pterines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22491060
Breast Neoplasms Associate 25582316, 35132081
Carcinoma Hepatocellular Associate 25318605, 28714006, 28792511, 34896911, 37596270
Carcinoma Hepatocellular Inhibit 28714006
Carcinoma Non Small Cell Lung Associate 22491060
Carcinoma Renal Cell Associate 24977159, 35096270
Carcinoma Squamous Cell Associate 22491060
Cleft Lip Associate 27604992
Cleft Palate Associate 27604992
Death Associate 28714006