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HOGA1

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Protein-coding gene in the species Homo sapiens
HOGA1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3S5N, 3S5O

Identifiers
AliasesHOGA1, C10orf65, DHDPS2, DHDPSL, HP3, NPL2, 4-hydroxy-2-oxoglutarate aldolase 1
External IDsOMIM: 613597; MGI: 1914682; HomoloGene: 12130; GeneCards: HOGA1; OMA:HOGA1 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)
Chromosome 10 (human)Genomic location for HOGA1Genomic location for HOGA1
Band10q24.2Start97,584,323 bp
End97,612,802 bp
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)
Chromosome 19 (mouse)Genomic location for HOGA1Genomic location for HOGA1
Band19|19 C3Start42,034,049 bp
End42,059,392 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • renal medulla

  • human kidney

  • apex of heart

  • left ventricle

  • right adrenal cortex

  • body of pancreas

  • left adrenal gland

  • C1 segment

  • right auricle
Top expressed in
  • right kidney

  • proximal tubule

  • liver

  • left lobe of liver

  • human kidney

  • yolk sac

  • spermatid

  • muscle of thigh

  • renal corpuscle

  • fetal liver hematopoietic progenitor cell
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

112817

67432

Ensembl

ENSG00000241935

ENSMUSG00000025176

UniProt

Q86XE5

Q9DCU9

RefSeq (mRNA)

NM_138413
NM_001134670

NM_026152

RefSeq (protein)

NP_001128142
NP_612422

NP_080428

Location (UCSC)Chr 10: 97.58 – 97.61 MbChr 19: 42.03 – 42.06 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

4-Hydroxy-2-oxoglutarate aldolase, mitochondrial (HOGA1) also known as dihydrodipicolinate synthase-like (DHDPSL) is an enzyme that in humans is encoded by the HOGA1 gene. The protein is one of the enzymes (4-hydroxy-2-oxoglutarate aldolase) involved in metabolism of hydroxyproline to glyoxylate. The enzyme overactivity can form excessive glyoxylate from hydroxyproline. Glyoxylate is catabolised to oxalate, resulting in excess excretion of oxalate in urine, predisposing to oxalate stone; a condition known as primary hyperoxaluria type III.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000241935Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000025176Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y (September 2010). "Mutations in DHDPSL are responsible for primary hyperoxaluria type III". American Journal of Human Genetics. 87 (3): 392–9. doi:10.1016/j.ajhg.2010.07.023. PMC 2933339. PMID 20797690.


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