HOGA1

Protein identityUniProt · HPA

UniProt accession

Q86XE5

Gene

HOGA1

Ensembl

ENSG00000241935

Chromosome

10

Canonical length

327 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI Gene

The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

327 residues, UniProt reviewed canonical sequence.

>Q86XE5|HOGA1
     1  MLGPQVWSSV RQGLSRSLSR NVGVWASGEG KKVDIAGIYP PVTTPFTATA EVDYGKLEEN
    61  LHKLGTFPFR GFVVQGSNGE FPFLTSSERL EVVSRVRQAM PKNRLLLAGS GCESTQATVE
   121  MTVSMAQVGA DAAMVVTPCY YRGRMSSAAL IHHYTKVADL SPIPVVLYSV PANTGLDLPV
   181  DAVVTLSQHP NIVGMKDSGG DVTRIGLIVH KTRKQDFQVL AGSAGFLMAS YALGAVGGVC
   241  ALANVLGAQV CQLERLCCTG QWEDAQKLQH RLIEPNAAVT RRFGIPGLKK IMDWFGYYGG
   301  PCRAPLQELS PAEEEALRMD FTSNGWL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOGA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOGA1.

Disease | AllUniProt

Conditions HOGA1 is implicated in, by any mechanism.

• Hyperoxaluria primary 3 (HP3) MIM:613616

Disease | GeneticClinVar

141 pathogenic / likely-pathogenic of 584 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary hyperoxaluria type 3
• HOGA1-related disorder
• Familial cancer of breast
• Colon adenocarcinoma
• Ovarian serous cystadenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.77

gnomAD pLI

0

gnomAD missense Z

-0.28

DepMap mean gene effect

-0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glyoxylate catabolic process
• glyoxylate metabolic process
• pyruvate biosynthetic process
• trans-4-hydroxy-L-proline catabolic process
• oxalate metabolic process

Molecular functions

• protein homodimerization activity
• (4S)-4-hydroxy-2-oxoglutarate aldolase activity
• (R,S)-4-hydroxy-2-oxoglutarate aldolase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• DapA-like
• Aldolase-type TIM barrel
• Dihydrodipicolinate synthetase family
• Schiff base-forming aldolase, active site

KeywordsUniProt

• Lyase
• Mitochondrion
• Schiff base
• Transit peptide