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HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 [ Homo sapiens (human) ]

Gene ID: 112817, updated on 23-Nov-2021

Summary

Official Symbol
HOGA1provided by HGNC
Official Full Name
4-hydroxy-2-oxoglutarate aldolase 1provided by HGNC
Primary source
HGNC:HGNC:25155
See related
Ensembl:ENSG00000241935 MIM:613597
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HP3; NPL2; DHDPS2; DHDPSL; C10orf65
Summary
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]
Expression
Biased expression in kidney (RPKM 27.4), liver (RPKM 9.9) and 5 other tissues See more
Orthologs
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Genomic context

See HOGA1 in Genome Data Viewer
Location:
10q24.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (97584389..97612802)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99344146..99372559)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ubiquitin domain containing 1 Neighboring gene ankyrin repeat domain 2 Neighboring gene Sharpr-MPRA regulatory region 10262 Neighboring gene chromosome 10 open reading frame 62 Neighboring gene MORN repeat containing 4 Neighboring gene phosphatidylinositol 4-kinase type 2 alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Primary hyperoxaluria, type III
MedGen: C3150878 OMIM: 613616 GeneReviews: Primary Hyperoxaluria Type 3
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PI4K2A

Homology

Clone Names

  • FLJ37472, FLJ56960

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4-hydroxy-2-oxoglutarate aldolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 4-hydroxy-2-oxoglutarate aldolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 4-hydroxy-2-oxoglutarate aldolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in 4-hydroxyproline catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glyoxylate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glyoxylate catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glyoxylate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in oxalate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pyruvate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
4-hydroxy-2-oxoglutarate aldolase, mitochondrial
Names
DHDPS-like protein
N-acetylneuraminate pyruvate lyase 2 (putative)
dihydrodipicolinate synthase-like, mitochondrial
dihydrodipicolinate synthetase homolog 2
probable 2-keto-4-hydroxyglutarate aldolase
probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial
probable KHG-aldolase
protein 569272
NP_001128142.1
NP_612422.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027922.1 RefSeqGene

    Range
    5045..33458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134670.2NP_001128142.1  4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001128142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple consecutive exons in the coding region, compared to variant 1, resulting in a protein (isoform 2) that lacks a large region of the central protein when compared to isoform 1.
    Source sequence(s)
    BC011916
    Consensus CDS
    CCDS44469.1
    UniProtKB/Swiss-Prot
    Q86XE5
    Related
    ENSP00000359681.4, ENST00000370647.8
    Conserved Domains (2) summary
    cd00408
    Location:70158
    DHDPS-like; Dihydrodipicolinate synthase family
    cl21457
    Location:3561
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
  2. NM_138413.4NP_612422.2  4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_612422.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC011916, BC045550
    Consensus CDS
    CCDS7467.1
    UniProtKB/Swiss-Prot
    Q86XE5
    Related
    ENSP00000359680.4, ENST00000370646.9
    Conserved Domains (1) summary
    cd00408
    Location:38321
    DHDPS-like; Dihydrodipicolinate synthase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    97584389..97612802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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