ALDH1L1 - aldehyde dehydrogenase 1 family member L1 Gene

Homo sapiens

Also known as FDH; FTHFD; 10-fTHF; 10-FTHFDH

Gene ID: 10840 | Gene type: protein coding

About ALDH1L1

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:126,103,570-126,197,945 (from NCBI)

This gene has 18 transcripts (splice variants), 176 orthologues and 17 paralogues. Biased expression in liver (RPKM 99.3), kidney (RPKM 65.2) and 8 other tissues.

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 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]

ALDH1L1 Products(3)

mRNA	Protein	Name
NM_001270364.2	NP_001257293.1	cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 1
NM_001270365.2	NP_001257294.1	cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 3
NM_012190.4	NP_036322.2	cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables formyltetrahydrofolate dehydrogenase activity	IDA IDA: Inferred from direct assay	19933275	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 10-formyltetrahydrofolate catabolic process	IDA IDA: Inferred from direct assay	19933275	GOA
involved in NADPH regeneration	IDA IDA: Inferred from direct assay	19933275	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH1L1 Protein Structure

Formyl_trans_N

Formyl_trans_C

PP-binding

Aldedh

0
200
400
600
800
902 a.a.

Protein Preferred Names

Protein Names

cytosolic 10-formyltetrahydrofolate dehydrogenase

10-formyltetrahydrofolate dehydrogenase

ALDH1L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ALDH1L1	O75891	ALDH1L2	Homo sapiens	Q3SY69	Anti Tag CoIP	33961781
Intra	ALDH1L1	O75891	ALDH1L2	Homo sapiens	Q3SY69	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Focal Dermal Hypoplasia

Goltz Syndrome	Goltz-Gorlin Syndrome
FDH	FODH
Dhof	Goltz Gorlin Syndrome
Hypoplasia, Dermal, Focal

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria	Ssadh Deficiency
Gamma-Hydroxybutyric Aciduria	Gaba Metabolic Defect
SSADHD	Ssadh
Succinate-Semialdehyde Dehydrogenase Deficiency	Gamma-Hydroxybutyricaciduria
4-Hydroxybutyricaciduria	Gamma-Hydroxybutyric Acidemia
Succinate Semialdehyde Dehydrogenase Deficiency

Pilomyxoid Astrocytoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (25)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138097	α-NETA		≥98.0%	Unkown
HY-18768	NCT-501	Inhibitor	99.84%	Unkown
HY-148466	IGUANA-1	Inhibitor	98.88%	Unkown
HY-112278	NCT-506	Inhibitor	99.95%	Unkown
HY-135841	CM010	Inhibitor	98.07%	Unkown
HY-112277	NCT-505	Inhibitor	98.41%	Unkown
HY-146683	KS106		99.31%	Unkown
HY-110294	CM037	Inhibitor	99.06%	Unkown
HY-146682	KS100		99.61%	Unkown
HY-122912	ALDH1A inhibitor 673A		99.15%	Unkown
HY-126003	ALDH1A1-IN-2	Inhibitor	99.31%	Unkown
HY-125085	ALDH3A1-IN-3	Inhibitor	99.30%	Unkown
HY-148243	IGUANA-1 free base	Inhibitor	99.69%	Unkown
HY-157567	FSI-TN42	Inhibitor	98.05%	Unkown
HY-146240	ALDH1A1-IN-3	Inhibitor	/	Unkown
HY-155816	PROTAC NSD3 degrader-1		/	Unkown
HY-157872	ALDH1A1-IN-4	Inhibitor	/	Unkown
HY-158026	ALDH1A1-IN-5	Inhibitor	/	Unkown
HY-159111	KS124		/	Unkown
HY-18768A	NCT-501 hydrochloride	Inhibitor	/	Unkown
HY-RS00560	ALDH1A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00561	Aldh1a1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00562	ALDH1A1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00565	ALDH1B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00566	ALDH1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALDH1L1	RGD	RGD:621294
Macaca mulatta	ALDH1L1	VGNC	VGNC:81355
Mus musculus	ALDH1L1	MGD	MGI:1340024
Bos taurus	ALDH1L1	VGNC	VGNC:25811

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