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

    Gene ID: 112817, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:25155
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97584389..97612802)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98464572..98493008)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99301395-99302007 Neighboring gene uncharacterized LOC124902488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99302008-99302619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99311139-99311639 Neighboring gene NANOG hESC enhancer GRCh37_chr10:99313431-99313932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2682 Neighboring gene Sharpr-MPRA regulatory region 14301 Neighboring gene ankyrin repeat domain 2 Neighboring gene Sharpr-MPRA regulatory region 10262 Neighboring gene chromosome 10 open reading frame 62 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99366549-99367050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99367051-99367550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3853 Neighboring gene MORN repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3854 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99399170-99399353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3856 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:99411103-99412302 Neighboring gene phosphatidylinositol 4-kinase type 2 alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99435535-99436034

    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
    Primary hyperoxaluria type 3
    MedGen: C3150878 OMIM: 613616 GeneReviews: Primary Hyperoxaluria Type 3
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PI4K2A

    Clone Names

    • FLJ37472, FLJ56960

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables (4S)-4-hydroxy-2-oxoglutarate aldolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables (R,S)-4-hydroxy-2-oxoglutarate aldolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables (R,S)-4-hydroxy-2-oxoglutarate aldolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables (R,S)-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
     
    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
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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)

    NEW Try the new Transcript table

    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
      A8K075, Q5T680, Q5T684, Q711P0, Q86XE5, Q8N9F2, Q96EV5
      Related
      ENSP00000359680.4, ENST00000370646.9
      Conserved Domains (1) summary
      cd00408
      Location:38321
      DHDPS-like; Dihydrodipicolinate synthase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      98464572..98493008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)