HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)

2014-11-01  

Identity

HGNC
HOGA1
LOCATION
10q24.2
LOCUSID
112817
ALIAS
C10orf65,DHDPS2,DHDPSL,HP3,NPL2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 112817
MIM: 613597
HGNC: 25155
Ensembl: ENSG00000241935

Variants:

dbSNP: 112817
ClinVar: 112817
TCGA: ENSG00000241935
COSMIC: HOGA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000241935ENST00000370642H7BY76
ENSG00000241935ENST00000370646Q86XE5
ENSG00000241935ENST00000370647Q86XE5

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Glyoxylate and dicarboxylate metabolismKEGGko00630
Arginine and proline metabolismKEGGhsa00330
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100

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

References

Pubmed IDYearTitleCitations
207976902010Mutations in DHDPSL are responsible for primary hyperoxaluria type III.42
218968302011Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
219987472011Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.14
223911402012The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.9
227810982013Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.9
222321732012Purification, crystallization and preliminary crystallographic analysis of human dihydrodipicolinate synthase-like protein (DHDPSL).2
259722042015Renal function can be impaired in children with primary hyperoxaluria type 3.1
270963952016Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.1
314016352019Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.0

Citation

Dessen P

HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64378/hoga1