ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10840
Gene name Aldehyde dehydrogenase 1 family member L1
Gene symbol ALDH1L1
Synonyms (NCBI Gene)
10-FTHFDH10-fTHFFDHFTHFD
Chromosome 3
Chromosome location 3q21.3
Summary 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.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600249 3978 ENSG00000144908
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs759726209 RCV005932213
High myopia Uncertain significance rs1559961172 RCV000785725
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease 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