ALDH4A1 (aldehyde dehydrogenase 4 family member A1)

2007-04-01  

Identity

HGNC
ALDH4A1
LOCATION
1p36.13
LOCUSID
8659
ALIAS
ALDH4,P5CD,P5CDh
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8659
MIM: 606811
HGNC: 406
Ensembl: ENSG00000159423

Variants:

dbSNP: 8659
ClinVar: 8659
TCGA: ENSG00000159423
COSMIC: ALDH4A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159423ENST00000290597P30038
ENSG00000159423ENST00000290597A0A024RAD8
ENSG00000159423ENST00000375341P30038
ENSG00000159423ENST00000375341A0A024RAD8
ENSG00000159423ENST00000432718Q5TF55
ENSG00000159423ENST00000538309P30038
ENSG00000159423ENST00000538839P30038

Expression (GTEx)

0
50
100
150
200
250
300
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
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Proline catabolismREACTOMER-HSA-70688
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

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
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

References

Pubmed IDYearTitleCitations
381099052024Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological Indicator for Plaque Erosion in Patients with ST Segment Elevated Myocardial Infarction.1
381099052024Atherosclerotic Autoantigen ALDH4A1 as a Novel Immunological Indicator for Plaque Erosion in Patients with ST Segment Elevated Myocardial Infarction.1
354707982022Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.3
354707982022Genetic variation in ALDH4A1 is associated with muscle health over the lifespan and across species.3
332688922021ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.46
332688922021ALDH4A1 is an atherosclerosis auto-antigen targeted by protective antibodies.46
320659472020ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism.4
320659472020ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism.4
225166122012The three-dimensional structural basis of type II hyperprolinemia.34
225166122012The three-dimensional structural basis of type II hyperprolinemia.34
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.105

Citation

Dessen P

ALDH4A1 (aldehyde dehydrogenase 4 family member A1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46989/aldh4a1-(aldehyde-dehydrogenase-4-family-member-a1)