• Gene id: 10840

Gene Summary

• Gene Symbol: ALDH1L1   Gene   UCSC   Ensembl
• Aliases: 10-FTHFDH, 10-fTHF, FDH, FTHFD
• Gene name: aldehyde dehydrogenase 1 family member L1
• Alternate names: cytosolic 10-formyltetrahydrofolate dehydrogenase, 10-formyltetrahydrofolate dehydrogenase, MER57B-ALDH1L1,
• Gene location: 3q21.3 (126197757: 126103560)     Exons: 27     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 603451

Protein Summary

• Protein general information: O75891  
  • Name: Cytosolic 10 formyltetrahydrofolate dehydrogenase (10 FTHFDH) (FDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L1)
  • Length: 902  
  • Mass: 98829
  • Tissue specificity: Highly expressed in liver, pancreas and kidney. {ECO
• Sequence:

  MKIAVIGQSLFGQEVYCHLRKEGHEVVGVFTVPDKDGKADPLGLEAEKDGVPVFKYSRWRAKGQALPDVVAKYQA
  LGAELNVLPFCSQFIPMEIISAPRHGSIIYHPSLLPRHRGASAINWTLIHGDKKGGFSIFWADDGLDTGDLLLQK
  ECEVLPDDTVSTLYNRFLFPEGIKGMVQAVRLIAEGKAPRLPQPEEGATYEGIQKKETAKINWDQPAEAIHNWIR
  GNDKVPGAWTEACEQKLTFFNSTLNTSGLVPEGDALPIPGAHRPGVVTKAGLILFGNDDKMLLVKNIQLEDGKMI
  LASNFFKGAASSVLELTEAELVTAEAVRSVWQRILPKVLEVEDSTDFFKSGAASVDVVRLVEEVKELCDGLELEN
  EDVYMASTFGDFIQLLVRKLRGDDEEGECSIDYVEMAVNKRTVRMPHQLFIGGEFVDAEGAKTSETINPTDGSVI
  CQVSLAQVTDVDKAVAAAKDAFENGRWGKISARDRGRLMYRLADLMEQHQEELATIEALDAGAVYTLALKTHVGM
  SIQTFRYFAGWCDKIQGSTIPINQARPNRNLTLTRKEPVGVCGIIIPWNYPLMMLSWKTAACLAAGNTVVIKPAQ
  VTPLTALKFAELTLKAGIPKGVVNVLPGSGSLVGQRLSDHPDVRKIGFTGSTEVGKHIMKSCAISNVKKVSLELG
  GKSPLIIFADCDLNKAVQMGMSSVFFNKGENCIAAGRLFVEDSIHDEFVRRVVEEVRKMKVGNPLDRDTDHGPQN
  HHAHLVKLMEYCQHGVKEGATLVCGGNQVPRPGFFFEPTVFTDVEDHMFIAKEESFGPVMIISRFADGDLDAVLS
  RANATEFGLASGVFTRDINKALYVSDKLQAGTVFVNTYNKTDVAAPFGGFKQSGFGKDLGEAALNEYLRVKTVTF
  EY

• Structural information:
  • Protein Domains: (318..39-)
    (/note="Carrier-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00258"-)
  • Interpro: IPR011407  IPR036736  IPR016161  IPR016163  IPR016160   IPR029510  IPR016162  IPR015590  IPR005793  IPR037022  IPR002376  IPR036477  IPR011034  IPR001555  IPR009081  
  • Prosite: PS00070 PS00687 PS50075 PS00373
  • PDB: 2BW0 2CFI 2CQ8
  • PDBsum: 2BW0 2CFI 2CQ8
  • STRING: ENSP00000273450
• Other Databases: GeneCards:  ALDH1L1  Malacards:  ALDH1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0016742	hydroxymethyl-, formyl- and related transferase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009258	10-formyltetrahydrofolate catabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0009258	10-formyltetrahydrofolate catabolic process	TAS	biological process
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0016742	hydroxymethyl-, formyl- and related transferase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009258	10-formyltetrahydrofolate catabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	TAS	molecular function
GO:0009258	10-formyltetrahydrofolate catabolic process	TAS	biological process
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Low sperm motility	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Low sperm motility			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq