ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

2007-02-01  

Identity

HGNC
ALDH1L1
LOCATION
3q21.3
LOCUSID
10840
ALIAS
10-FTHFDH,10-fTHF,FDH,FTHFD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10840
MIM: 600249
HGNC: 3978
Ensembl: ENSG00000144908

Variants:

dbSNP: 10840
ClinVar: 10840
TCGA: ENSG00000144908
COSMIC: ALDH1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144908ENST00000273450O75891
ENSG00000144908ENST00000393431O75891
ENSG00000144908ENST00000393431A0A0S2Z586
ENSG00000144908ENST00000393434O75891
ENSG00000144908ENST00000452905O75891
ENSG00000144908ENST00000455064O75891
ENSG00000144908ENST00000455064A0A0S2Z586
ENSG00000144908ENST00000460368C9JYZ6
ENSG00000144908ENST00000472186O75891
ENSG00000144908ENST00000473607F2Z324
ENSG00000144908ENST00000488356C9JY00
ENSG00000144908ENST00000490367C9IZ36
ENSG00000144908ENST00000493803F8WC34
ENSG00000144908ENST00000509952D6RFJ7
ENSG00000144908ENST00000511283F2Z324

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
One carbon pool by folateKEGGhsa00670
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447054StrokeDiseaseLiterature, MultilinkAnnotationassociated24651765
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
363369722023Abnormal downregulation of 10-formyltetrahydrofolate dehydrogenase promotes the progression of oral squamous cell carcinoma by activating PI3K/Akt/Rb pathway.2
375962702023One-carbon metabolizing enzyme ALDH1L1 influences mitochondrial metabolism through 5-aminoimidazole-4-carboxamide ribonucleotide accumulation and serine depletion, contributing to tumor suppression.0
363369722023Abnormal downregulation of 10-formyltetrahydrofolate dehydrogenase promotes the progression of oral squamous cell carcinoma by activating PI3K/Akt/Rb pathway.2
375962702023One-carbon metabolizing enzyme ALDH1L1 influences mitochondrial metabolism through 5-aminoimidazole-4-carboxamide ribonucleotide accumulation and serine depletion, contributing to tumor suppression.0
354602322022Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children.2
354602322022Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children.2
323921892020[Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer].3
323921892020[Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer].3
284141562017Modeling of interactions between functional domains of ALDH1L1.3
287140062017ALDH1L1 variant rs2276724 and mRNA expression predict post-operative clinical outcomes and are associated with TP53 expression in HBV-related hepatocellular carcinoma.7
284141562017Modeling of interactions between functional domains of ALDH1L1.3
287140062017ALDH1L1 variant rs2276724 and mRNA expression predict post-operative clinical outcomes and are associated with TP53 expression in HBV-related hepatocellular carcinoma.7
269931222016Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population.3
270151212016Mining distinct aldehyde dehydrogenase 1 (ALDH1) isoenzymes in gastric cancer.17
273844812016Aldehyde dehydrogenase inhibition combined with phenformin treatment reversed NSCLC through ATP depletion.37

Citation

Dessen P

ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45920