Property Summary

NCBI Gene PubMed Count 16
Grant Count 6
R01 Count 3
Funding $317,783.94
PubMed Score 1.73
PubTator Score 22.01

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q86XE5 A8K075 Q5T680 Q5T684 Q711P0 Q8N9F2 Q96EV5
Symbols HP3
NPL2
DHDPS2
DHDPSL
C10orf65

Gene

PANTHER Protein Class (1)

PDB

3S5N   3S5O  

Gene RIF (8)

PMID Text
25972204 Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection.
22781098 Our results strongly suggest HOGA1 as a major cause of PH, indicate a greater genetic heterogeneity of hyperoxaluria, and point to a favorable outcome of type III in the context of PH despite incomplete or absent biochemical remission
22391140 seven different mutations were identified in primary hyperoxaluria type 3
22232173 Two crystal forms of DHDPSL were obtained, both of which diffracted X-rays to approximately 2.0 A resolution
21998747 hHOGA utilizes a type I aldolase reaction mechanism, but employs novel residue interactions for substrate binding
21896830 Detection of HOGA1 variants in idiopathic calcium oxalate urolithiasis also suggests HOGA1 may be a predisposing factor for this condition
20877624 Observational study of gene-disease association. (HuGE Navigator)
20797690 DHDPSL is the gene encoding 4-hydroxy-2-oxoglutarate aldolase, catalyzing the final step in the metabolic pathway of hydroxyproline.

AA Sequence

MLGPQVWSSVRQGLSRSLSRNVGVWASGEGKKVDIAGIYPPVTTPFTATAEVDYGKLEENLHKLGTFPFR      1 - 70
GFVVQGSNGEFPFLTSSERLEVVSRVRQAMPKNRLLLAGSGCESTQATVEMTVSMAQVGADAAMVVTPCY     71 - 140
YRGRMSSAALIHHYTKVADLSPIPVVLYSVPANTGLDLPVDAVVTLSQHPNIVGMKDSGGDVTRIGLIVH    141 - 210
KTRKQDFQVLAGSAGFLMASYALGAVGGVCALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPNAAVT    211 - 280
RRFGIPGLKKIMDWFGYYGGPCRAPLQELSPAEEEALRMDFTSNGWL                           281 - 327
//

Text Mined References (16)

PMID Year Title
25972204 2015 Renal function can be impaired in children with primary hyperoxaluria type 3.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22781098 2013 Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
22391140 2012 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
22232173 2012 Purification, crystallization and preliminary crystallographic analysis of human dihydrodipicolinate synthase-like protein (DHDPSL).
21998747 2011 Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.
21896830 2011 Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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