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Protein

4-hydroxy-2-oxoglutarate aldolase, mitochondrial

Gene

HOGA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the final step in the metabolic pathway of hydroxyproline.2 Publications

Catalytic activityi

4-hydroxy-2-oxoglutarate = pyruvate + glyoxylate.1 Publication

Enzyme regulationi

Inhibited by divalent cations.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei168Involved in proton transfer during cleavage1
Active sitei196Schiff-base intermediate with substrate1 Publication1
Binding sitei198Substrate1
Binding sitei222Substrate; via carbonyl oxygen1

GO - Molecular functioni

GO - Biological processi

  • 4-hydroxyproline catabolic process Source: BHF-UCL
  • glyoxylate catabolic process Source: UniProtKB
  • glyoxylate metabolic process Source: BHF-UCL
  • oxalate metabolic process Source: BHF-UCL
  • pyruvate biosynthetic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Ligandi

Schiff base

Enzyme and pathway databases

BioCyciMetaCyc:G66-31234-MONOMER.
ZFISH:G66-31234-MONOMER.
BRENDAi4.1.3.16. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
4-hydroxy-2-oxoglutarate aldolase, mitochondrial (EC:4.1.3.16)
Alternative name(s):
Dihydrodipicolinate synthase-like
Short name:
DHDPS-like protein
Probable 2-keto-4-hydroxyglutarate aldolase
Short name:
Probable KHG-aldolase
Protein 569272
Gene namesi
Name:HOGA1
Synonyms:C10orf65, DHDPSL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:25155. HOGA1.

Subcellular locationi

  • Mitochondrion By similarity

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Hyperoxaluria primary 3 (HP3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613616
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064035257C → G in HP3. 1 PublicationCorresponds to variant rs267606764dbSNPEnsembl.1
Natural variantiVAR_064036287G → V in HP3. 1 PublicationCorresponds to variant rs138207257dbSNPEnsembl.1
Natural variantiVAR_064037315Missing in HP3. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77S → A: 2-fold decrease in Kcat and a nearly 8-fold increase in KM. 1 Publication1
Mutagenesisi77S → T: Significant loss of activity. 1 Publication1
Mutagenesisi78N → A: 6-fold increase in KM. 1 Publication1
Mutagenesisi78N → Q: 25-fold increase in KM. 1 Publication1
Mutagenesisi140Y → F: No change in activity. 1 Publication1
Mutagenesisi168Y → F: No enzymatic activity. 1 Publication1
Mutagenesisi196K → A: No enzymatic activity. 1 Publication1
Mutagenesisi198S → A: 2.5-fold decrease in Kcat and 4.2 fold increase in KM. 1 Publication1
Mutagenesisi198S → T: 7-fold increase in KM. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi112817.
MalaCardsiHOGA1.
MIMi613616. phenotype.
OpenTargetsiENSG00000241935.
Orphaneti93600. Primary hyperoxaluria type 3.
PharmGKBiPA165548441.

Chemistry databases

ChEMBLiCHEMBL5996.

Polymorphism and mutation databases

BioMutaiHOGA1.
DMDMi74750531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 25MitochondrionBy similarityAdd BLAST25
ChainiPRO_000027334626 – 3274-hydroxy-2-oxoglutarate aldolase, mitochondrialAdd BLAST302

Proteomic databases

MaxQBiQ86XE5.
PaxDbiQ86XE5.
PeptideAtlasiQ86XE5.
PRIDEiQ86XE5.

PTM databases

PhosphoSitePlusiQ86XE5.

Expressioni

Gene expression databases

BgeeiENSG00000241935.
CleanExiHS_C10orf65.
ExpressionAtlasiQ86XE5. baseline and differential.
GenevisibleiQ86XE5. HS.

Organism-specific databases

HPAiHPA039466.

Interactioni

Subunit structurei

Homotetramer.By similarity

GO - Molecular functioni

  • protein homodimerization activity Source: BHF-UCL

Protein-protein interaction databases

BioGridi125207. 12 interactors.
IntActiQ86XE5. 1 interactor.
STRINGi9606.ENSP00000359680.

Chemistry databases

BindingDBiQ86XE5.

Structurei

Secondary structure

1327
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi37 – 39Combined sources3
Helixi54 – 64Combined sources11
Beta strandi70 – 76Combined sources7
Helixi77 – 79Combined sources3
Helixi81 – 83Combined sources3
Helixi86 – 98Combined sources13
Beta strandi104 – 109Combined sources6
Helixi115 – 127Combined sources13
Beta strandi131 – 136Combined sources6
Helixi142 – 144Combined sources3
Helixi147 – 160Combined sources14
Beta strandi165 – 169Combined sources5
Helixi171 – 174Combined sources4
Helixi180 – 187Combined sources8
Beta strandi192 – 197Combined sources6
Helixi202 – 211Combined sources10
Turni212 – 214Combined sources3
Beta strandi218 – 223Combined sources6
Helixi224 – 226Combined sources3
Helixi227 – 233Combined sources7
Beta strandi237 – 239Combined sources3
Helixi241 – 244Combined sources4
Helixi247 – 258Combined sources12
Helixi262 – 278Combined sources17
Turni279 – 283Combined sources5
Helixi284 – 295Combined sources12
Helixi311 – 322Combined sources12
Turni323 – 325Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S5NX-ray2.50A26-327[»]
3S5OX-ray1.97A26-327[»]
ProteinModelPortaliQ86XE5.
SMRiQ86XE5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni77 – 78Substrate binding2

Sequence similaritiesi

Belongs to the DapA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IJ4Q. Eukaryota.
COG0329. LUCA.
GeneTreeiENSGT00530000063604.
HOVERGENiHBG081405.
InParanoidiQ86XE5.
KOiK18123.
OMAiMDFTSNG.
OrthoDBiEOG091G0C8O.
PhylomeDBiQ86XE5.
TreeFamiTF324600.

Family and domain databases

Gene3Di3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR002220. DapA-like.
IPR020625. Schiff_base-form_aldolases_AS.
[Graphical view]
PANTHERiPTHR12128. PTHR12128. 1 hit.
PfamiPF00701. DHDPS. 1 hit.
[Graphical view]
PIRSFiPIRSF001365. DHDPS. 1 hit.
PRINTSiPR00146. DHPICSNTHASE.
SMARTiSM01130. DHDPS. 1 hit.
[Graphical view]
PROSITEiPS00666. DHDPS_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86XE5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGPQVWSSV RQGLSRSLSR NVGVWASGEG KKVDIAGIYP PVTTPFTATA
60 70 80 90 100
EVDYGKLEEN LHKLGTFPFR GFVVQGSNGE FPFLTSSERL EVVSRVRQAM
110 120 130 140 150
PKNRLLLAGS GCESTQATVE MTVSMAQVGA DAAMVVTPCY YRGRMSSAAL
160 170 180 190 200
IHHYTKVADL SPIPVVLYSV PANTGLDLPV DAVVTLSQHP NIVGMKDSGG
210 220 230 240 250
DVTRIGLIVH KTRKQDFQVL AGSAGFLMAS YALGAVGGVC ALANVLGAQV
260 270 280 290 300
CQLERLCCTG QWEDAQKLQH RLIEPNAAVT RRFGIPGLKK IMDWFGYYGG
310 320
PCRAPLQELS PAEEEALRMD FTSNGWL
Length:327
Mass (Da):35,249
Last modified:June 1, 2003 - v1
Checksum:i2DC011E4F9FD32C9
GO
Isoform 2 (identifier: Q86XE5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-233: Missing.

Note: No experimental confirmation available.
Show »
Length:164
Mass (Da):17,954
Checksum:i5DC5ADF3B9A891B4
GO

Sequence cautioni

The sequence CAC84901 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI15457 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064035257C → G in HP3. 1 PublicationCorresponds to variant rs267606764dbSNPEnsembl.1
Natural variantiVAR_064036287G → V in HP3. 1 PublicationCorresponds to variant rs138207257dbSNPEnsembl.1
Natural variantiVAR_064037315Missing in HP3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02251571 – 233Missing in isoform 2. 1 PublicationAdd BLAST163

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289440 mRNA. Translation: BAF82129.1.
AL355315 Genomic DNA. Translation: CAI15454.1.
AL355315 Genomic DNA. Translation: CAI15455.1.
AL355315 Genomic DNA. Translation: CAI15457.1. Sequence problems.
CH471066 Genomic DNA. Translation: EAW49912.1.
BC011916 mRNA. Translation: AAH11916.1.
BC045550 mRNA. Translation: AAH45550.1.
BC057821 mRNA. Translation: AAH57821.1.
AJ312051 Genomic DNA. Translation: CAC84901.1. Sequence problems.
CCDSiCCDS44469.1. [Q86XE5-3]
CCDS7467.1. [Q86XE5-1]
RefSeqiNP_001128142.1. NM_001134670.1. [Q86XE5-3]
NP_612422.2. NM_138413.3. [Q86XE5-1]
UniGeneiHs.180346.

Genome annotation databases

EnsembliENST00000370646; ENSP00000359680; ENSG00000241935. [Q86XE5-1]
ENST00000370647; ENSP00000359681; ENSG00000241935. [Q86XE5-3]
GeneIDi112817.
KEGGihsa:112817.
UCSCiuc001kny.4. human. [Q86XE5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289440 mRNA. Translation: BAF82129.1.
AL355315 Genomic DNA. Translation: CAI15454.1.
AL355315 Genomic DNA. Translation: CAI15455.1.
AL355315 Genomic DNA. Translation: CAI15457.1. Sequence problems.
CH471066 Genomic DNA. Translation: EAW49912.1.
BC011916 mRNA. Translation: AAH11916.1.
BC045550 mRNA. Translation: AAH45550.1.
BC057821 mRNA. Translation: AAH57821.1.
AJ312051 Genomic DNA. Translation: CAC84901.1. Sequence problems.
CCDSiCCDS44469.1. [Q86XE5-3]
CCDS7467.1. [Q86XE5-1]
RefSeqiNP_001128142.1. NM_001134670.1. [Q86XE5-3]
NP_612422.2. NM_138413.3. [Q86XE5-1]
UniGeneiHs.180346.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S5NX-ray2.50A26-327[»]
3S5OX-ray1.97A26-327[»]
ProteinModelPortaliQ86XE5.
SMRiQ86XE5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125207. 12 interactors.
IntActiQ86XE5. 1 interactor.
STRINGi9606.ENSP00000359680.

Chemistry databases

BindingDBiQ86XE5.
ChEMBLiCHEMBL5996.

PTM databases

PhosphoSitePlusiQ86XE5.

Polymorphism and mutation databases

BioMutaiHOGA1.
DMDMi74750531.

Proteomic databases

MaxQBiQ86XE5.
PaxDbiQ86XE5.
PeptideAtlasiQ86XE5.
PRIDEiQ86XE5.

Protocols and materials databases

DNASUi112817.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370646; ENSP00000359680; ENSG00000241935. [Q86XE5-1]
ENST00000370647; ENSP00000359681; ENSG00000241935. [Q86XE5-3]
GeneIDi112817.
KEGGihsa:112817.
UCSCiuc001kny.4. human. [Q86XE5-1]

Organism-specific databases

CTDi112817.
DisGeNETi112817.
GeneCardsiHOGA1.
HGNCiHGNC:25155. HOGA1.
HPAiHPA039466.
MalaCardsiHOGA1.
MIMi613597. gene.
613616. phenotype.
neXtProtiNX_Q86XE5.
OpenTargetsiENSG00000241935.
Orphaneti93600. Primary hyperoxaluria type 3.
PharmGKBiPA165548441.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ4Q. Eukaryota.
COG0329. LUCA.
GeneTreeiENSGT00530000063604.
HOVERGENiHBG081405.
InParanoidiQ86XE5.
KOiK18123.
OMAiMDFTSNG.
OrthoDBiEOG091G0C8O.
PhylomeDBiQ86XE5.
TreeFamiTF324600.

Enzyme and pathway databases

BioCyciMetaCyc:G66-31234-MONOMER.
ZFISH:G66-31234-MONOMER.
BRENDAi4.1.3.16. 2681.

Miscellaneous databases

ChiTaRSiHOGA1. human.
GenomeRNAii112817.
PROiQ86XE5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000241935.
CleanExiHS_C10orf65.
ExpressionAtlasiQ86XE5. baseline and differential.
GenevisibleiQ86XE5. HS.

Family and domain databases

Gene3Di3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR002220. DapA-like.
IPR020625. Schiff_base-form_aldolases_AS.
[Graphical view]
PANTHERiPTHR12128. PTHR12128. 1 hit.
PfamiPF00701. DHDPS. 1 hit.
[Graphical view]
PIRSFiPIRSF001365. DHDPS. 1 hit.
PRINTSiPR00146. DHPICSNTHASE.
SMARTiSM01130. DHDPS. 1 hit.
[Graphical view]
PROSITEiPS00666. DHDPS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHOGA1_HUMAN
AccessioniPrimary (citable) accession number: Q86XE5
Secondary accession number(s): A8K075
, Q5T680, Q5T684, Q711P0, Q8N9F2, Q96EV5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: June 1, 2003
Last modified: November 2, 2016
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.