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Aliases for HOGA1 Gene

Aliases for HOGA1 Gene

  • 4-Hydroxy-2-Oxoglutarate Aldolase 1 2 3 5
  • Dihydrodipicolinate Synthase-Like, Mitochondrial 2 3
  • N-Acetylneuraminate Pyruvate Lyase 2 (Putative) 2 3
  • Probable 2-Keto-4-Hydroxyglutarate Aldolase 3 4
  • Probable KHG-Aldolase 3 4
  • DHDPS-Like Protein 3 4
  • Protein 569272 3 4
  • C10orf65 3 4
  • DHDPSL 3 4
  • Probable 4-Hydroxy-2-Oxoglutarate Aldolase, Mitochondrial 3
  • Dihydrodipicolinate Synthetase Homolog 2 (E. Coli) 2
  • 4-Hydroxy-2-Oxoglutarate Aldolase, Mitochondrial 3
  • Dihydrodipicolinate Synthetase Homolog 2 3
  • Chromosome 10 Open Reading Frame 65 2
  • Dihydrodipicolinate Synthase-Like 4
  • EC 4.1.3.16 4
  • DHDPS2 3
  • NPL2 3
  • HP3 3

External Ids for HOGA1 Gene

Previous HGNC Symbols for HOGA1 Gene

  • C10orf65
  • DHDPSL

Previous GeneCards Identifiers for HOGA1 Gene

  • GC10P099348
  • GC10P099350
  • GC10P099352
  • GC10P099353
  • GC10P099354
  • GC10P099355
  • GC10P099356
  • GC10P099357

Summaries for HOGA1 Gene

Entrez Gene Summary for HOGA1 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]

GeneCards Summary for HOGA1 Gene

HOGA1 (4-Hydroxy-2-Oxoglutarate Aldolase 1) is a Protein Coding gene. Diseases associated with HOGA1 include Hyperoxaluria, Primary, Type Iii and Primary Hyperoxaluria. Among its related pathways are Arginine and proline metabolism and Glyoxylate and dicarboxylate metabolism. GO annotations related to this gene include protein homodimerization activity and 4-hydroxy-2-oxoglutarate aldolase activity. An important paralog of this gene is NPL.

UniProtKB/Swiss-Prot for HOGA1 Gene

  • Catalyzes the final step in the metabolic pathway of hydroxyproline.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOGA1 Gene

Genomics for HOGA1 Gene

Regulatory Elements for HOGA1 Gene

Enhancers for HOGA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F097583 1.3 Ensembl ENCODE 39 +0.3 345 2.3 PKNOX1 MLX ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC HOGA1 ENSG00000249967 C10orf62
GH10F097517 0.7 Ensembl ENCODE 17.5 -65.8 -65786 2.6 CTCF ZNF654 SP3 JUN ZEB2 EBF1 RAD21 OSR2 ZNF664 JUND HOGA1 C10orf62 ENSG00000249967 PI4K2A ANKRD2 ZDHHC16 SLIT1 GC10P097506 GC10P097530
GH10F097534 1.1 Ensembl ENCODE 16.5 -49.3 -49323 0.4 ZNF263 CTCF ZNF654 REST RAD21 ZNF121 ZFHX2 SMC3 EGR2 HOGA1 UBTD1 MMS19 ENSG00000249967 C10orf62 PI4K2A GC10P097530 GC10P097540
GH10F097742 0.2 ENCODE 14.9 +159.4 159366 1.7 PKNOX1 CBX3 ESRRA TAL1 POLR2A NCOR1 NR2F6 ZNF600 MTA2 NR2F1 MARVELD1 HOGA1 SFRP5 PI4K2A ENSG00000249967 C10orf62 ZFYVE27
GH10F097560 0.7 Ensembl 12.2 -23.4 -23423 1.0 GATAD2A SAP130 HLF CEBPB CEBPG ATF4 ATF3 CEBPA IKZF1 MLLT1 PI4K2A HOGA1 ENSG00000249967 C10orf62 UBTD1 MMS19 MORN4 ANKRD2 GC10P097540
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HOGA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOGA1 Gene

Chromosome:
10
Start:
97,584,323 bp from pter
End:
97,612,802 bp from pter
Size:
28,480 bases
Orientation:
Plus strand

Genomic View for HOGA1 Gene

Genes around HOGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOGA1 Gene

Proteins for HOGA1 Gene

  • Protein details for HOGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XE5-HOGA1_HUMAN
    Recommended name:
    4-hydroxy-2-oxoglutarate aldolase, mitochondrial
    Protein Accession:
    Q86XE5
    Secondary Accessions:
    • A8K075
    • Q5T680
    • Q5T684
    • Q711P0
    • Q8N9F2
    • Q96EV5

    Protein attributes for HOGA1 Gene

    Size:
    327 amino acids
    Molecular mass:
    35249 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=CAC84901.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15457.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HOGA1 Gene

    Alternative splice isoforms for HOGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOGA1 Gene

Post-translational modifications for HOGA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOGA1 Gene

No data available for DME Specific Peptides for HOGA1 Gene

Domains & Families for HOGA1 Gene

Protein Domains for HOGA1 Gene

Suggested Antigen Peptide Sequences for HOGA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86XE5

UniProtKB/Swiss-Prot:

HOGA1_HUMAN :
  • Belongs to the DapA family.
Family:
  • Belongs to the DapA family.
genes like me logo Genes that share domains with HOGA1: view

No data available for Gene Families for HOGA1 Gene

Function for HOGA1 Gene

Molecular function for HOGA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4-hydroxy-2-oxoglutarate = pyruvate + glyoxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by divalent cations.
UniProtKB/Swiss-Prot Function:
Catalyzes the final step in the metabolic pathway of hydroxyproline.

Enzyme Numbers (IUBMB) for HOGA1 Gene

Gene Ontology (GO) - Molecular Function for HOGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008700 4-hydroxy-2-oxoglutarate aldolase activity ISS,IDA --
GO:0016829 lyase activity IEA --
GO:0042803 protein homodimerization activity IDA 21998747
genes like me logo Genes that share ontologies with HOGA1: view
genes like me logo Genes that share phenotypes with HOGA1: view

Human Phenotype Ontology for HOGA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOGA1 Gene

MGI Knock Outs for HOGA1:

Animal Model Products

miRNA for HOGA1 Gene

miRTarBase miRNAs that target HOGA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HOGA1 Gene

Localization for HOGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOGA1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOGA1 Gene COMPARTMENTS Subcellular localization image for HOGA1 gene
Compartment Confidence
extracellular 5
mitochondrion 3

Gene Ontology (GO) - Cellular Components for HOGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS 21998747
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HOGA1: view

Pathways & Interactions for HOGA1 Gene

genes like me logo Genes that share pathways with HOGA1: view

Pathways by source for HOGA1 Gene

Interacting Proteins for HOGA1 Gene

Gene Ontology (GO) - Biological Process for HOGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0009436 glyoxylate catabolic process IMP 20797690
GO:0019470 4-hydroxyproline catabolic process IDA 21998747
GO:0033609 oxalate metabolic process IMP 21896830
GO:0042866 pyruvate biosynthetic process IDA 21998747
genes like me logo Genes that share ontologies with HOGA1: view

No data available for SIGNOR curated interactions for HOGA1 Gene

Drugs & Compounds for HOGA1 Gene

(1) Drugs for HOGA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra 0

(2) Additional Compounds for HOGA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Hydroxy-2-oxoglutaric acid
  • (+/-)-2-hydroxy-4-oxopentanedioate
  • (+/-)-2-hydroxy-4-oxopentanedioic acid
  • 2-Hydroxy-4-oxopentanedioate
  • 2-Hydroxy-4-oxopentanedioic acid
  • 2-Keto-4-hydroxyglutarate
1187-99-1
Glyoxylic acid
  • a-Ketoacetate
  • a-Ketoacetic acid
  • alpha-Ketoacetate
  • alpha-Ketoacetic acid
  • Formylformate
298-12-4
genes like me logo Genes that share compounds with HOGA1: view

Transcripts for HOGA1 Gene

Unigene Clusters for HOGA1 Gene

4-hydroxy-2-oxoglutarate aldolase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOGA1 Gene

No ASD Table

Relevant External Links for HOGA1 Gene

GeneLoc Exon Structure for
HOGA1
ECgene alternative splicing isoforms for
HOGA1

Expression for HOGA1 Gene

mRNA expression in normal human tissues for HOGA1 Gene

mRNA differential expression in normal tissues according to GTEx for HOGA1 Gene

This gene is overexpressed in Kidney - Cortex (x11.9), Liver (x9.6), and Heart - Left Ventricle (x6.0).

Protein differential expression in normal tissues from HIPED for HOGA1 Gene

This gene is overexpressed in Kidney (36.5), Islet of Langerhans (9.8), and Liver (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HOGA1 Gene



Protein tissue co-expression partners for HOGA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HOGA1 Gene:

HOGA1

SOURCE GeneReport for Unigene cluster for HOGA1 Gene:

Hs.180346
genes like me logo Genes that share expression patterns with HOGA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HOGA1 Gene

Orthologs for HOGA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HOGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOGA1 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia HOGA1 34 35
  • 91.05 (n)
cow
(Bos Taurus)
Mammalia HOGA1 34 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Hoga1 34
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Hoga1 34 16 35
  • 87.12 (n)
oppossum
(Monodelphis domestica)
Mammalia HOGA1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOGA1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves C10ORF65 34
  • 73.33 (n)
HOGA1 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOGA1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoga1 34
  • 68.46 (n)
Str.8565 34
zebrafish
(Danio rerio)
Actinopterygii hoga1 34 35
  • 67.11 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2495 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7478 35
  • 57 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09532 34
  • 44.17 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7737 34
Species where no ortholog for HOGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOGA1 Gene

ENSEMBL:
Gene Tree for HOGA1 (if available)
TreeFam:
Gene Tree for HOGA1 (if available)

Paralogs for HOGA1 Gene

Paralogs for HOGA1 Gene

(1) SIMAP similar genes for HOGA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HOGA1: view

Variants for HOGA1 Gene

Sequence variations from dbSNP and Humsavar for HOGA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs138207257 Hyperoxaluria primary 3 (HP3) [MIM:613616], Pathogenic 97,611,535(+) CCCAG(A/G/T)GCTGA reference, missense
rs267606764 Hyperoxaluria primary 3 (HP3) [MIM:613616], Pathogenic 97,601,925(+) GACTG(G/T)GCTGC reference, missense
rs149150736 Pathogenic 97,611,582(+) CCTGC(C/T)GCGCC reference, missense
rs150702945 Pathogenic 97,598,900(+) GATGC(A/C/G)AGTGT intron-variant, reference, missense
rs185803104 Pathogenic 97,600,168(+) GGTAG(G/T)CCGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HOGA1 Gene

Variant ID Type Subtype PubMed ID
nsv1036494 CNV gain 25217958
nsv1047359 CNV gain 25217958
nsv1110852 OTHER inversion 24896259
nsv7509 CNV insertion 18451855
nsv818782 CNV loss 17921354

Variation tolerance for HOGA1 Gene

Residual Variation Intolerance Score: 65.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOGA1 Gene

Human Gene Mutation Database (HGMD)
HOGA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOGA1 Gene

Disorders for HOGA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HOGA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperoxaluria, primary, type iii
  • primary hyperoxaluria type 3
primary hyperoxaluria
  • hyperoxaluria, primary
basal cell nevus syndrome
  • nevoid basal cell carcinoma syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HOGA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HOGA1_HUMAN
  • Hyperoxaluria primary 3 (HP3) [MIM:613616]: A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. {ECO:0000269 PubMed:20797690}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOGA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOGA1
genes like me logo Genes that share disorders with HOGA1: view

No data available for Genatlas for HOGA1 Gene

Publications for HOGA1 Gene

  1. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. (PMID: 20797690) Belostotsky R. … Frishberg Y. (Am. J. Hum. Genet. 2010) 2 3 4 64
  2. Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria. (PMID: 21998747) Riedel T.J. … Lowther W.T. (PLoS ONE 2011) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for HOGA1 Gene

Sources for HOGA1 Gene

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