1. Gene
  2. ALDH1L1 - aldehyde dehydrogenase 1 family member L1 Gene

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

ALDH1L1 Protein Structure

Formyl_trans_N

Formyl_trans_N: Formyl transferase (1 - 180)

Formyl_trans_C

Formyl_trans_C: Formyl transferase, C-terminal domain (205 - 309)

PP-binding

PP-binding: Phosphopantetheine attachment site (326 - 391)

Aldedh

Aldedh: Aldehyde dehydrogenase family (430 - 898)

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  • 902 a.a.
Protein Preferred Names Protein Names

cytosolic 10-formyltetrahydrofolate dehydrogenase

10-formyltetrahydrofolate dehydrogenase

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

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