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
210465592011Molecular comparison of GLT1+ and ALDH1L1+ astrocytes in vivo in astroglial reporter mice.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
12065246200210-formyltetrahydrofolate dehydrogenase, one of the major folate enzymes, is down-regulated in tumor tissues and possesses suppressor effects on cancer cells.49
171191162007Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.32
175486762007Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence.32
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
207299102010ALDH1L1 inhibits cell motility via dephosphorylation of cofilin by PP1 and PP2A.32
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
246517652014Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.28
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25

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/aldh1l1