ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

Gene

• Entrez ID: 10840
• Gene name: Aldehyde dehydrogenase 1 family member L1
• Gene symbol: ALDH1L1
• Synonyms (NCBI Gene): 10-FTHFDH, 10-fTHF, FDH, FTHFD
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT2170120	hsa-miR-1236	CLIP-seq
MIRT2384063	hsa-miR-4436b-5p	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0006740	Process	NADPH regeneration	IDA	19933275
GO:0006740	Process	NADPH regeneration	IEA
GO:0009258	Process	10-formyltetrahydrofolate catabolic process	IDA	19933275
GO:0009258	Process	10-formyltetrahydrofolate catabolic process	IEA
GO:0009258	Process	10-formyltetrahydrofolate catabolic process	ISS
GO:0016155	Function	Formyltetrahydrofolate dehydrogenase activity	IBA
GO:0016155	Function	Formyltetrahydrofolate dehydrogenase activity	IDA	19933275
GO:0016155	Function	Formyltetrahydrofolate dehydrogenase activity	IEA
GO:0016155	Function	Formyltetrahydrofolate dehydrogenase activity	ISS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 600249
• HGNC: 3978
• e!Ensembl: ENSG00000144908

Protein

• 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

Pathways

KEGG:

One carbon pool by folate
Metabolic pathways

Reactome:

Metabolism of folate and pterines

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	29877129		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29877129		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19018242		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25582316		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25582316, 35132081	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25318605, 28714006, 28792511, 34896911, 37596270	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28714006	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16014005		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24977159, 35096270	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22491060	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	27604992	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27604992	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	19935739		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	34706460	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Frontal Lobe	Frontal lobe epilepsy	Pubtator	34706460	Associate	★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	23519469	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia	Hyperthyroxinemia	BEFREE	29163366		★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia, Familial Dysalbuminemic	Hyperthyroxinemia, Dysalbuminemic	BEFREE	29163366		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	24651765		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29755340		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28714006		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16014005	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17891500, 23913011, 25384508		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25582316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16014005		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12805405, 19147541, 22100631, 30362096, 30794800, 31737034		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25318605, 35460232	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16014005, 20729910, 23478628, 28714006, 30794800, 31737034		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	17111379, 26993122		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	16627483	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31446906		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	19018242		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19018242		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19064578		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31739114		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	19161160		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27015121	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23478628	Associate	★☆☆☆☆ Found in Text Mining only