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Entry version 148 (22 Apr 2020)
Sequence version 1 (01 Jun 2003)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by divalent cations.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei168Involved in proton transfer during cleavage1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei196Schiff-base intermediate with substrate1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei198Substrate1
Binding sitei222Substrate; via carbonyl oxygen1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
LigandSchiff base

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:G66-31234-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
4.1.3.16 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389661 Glyoxylate metabolism and glycine degradation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HOGA1
Synonyms:C10orf65, DHDPSL
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25155 HOGA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613597 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86XE5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064035257C → G in HP3. 1 PublicationCorresponds to variant dbSNP:rs267606764EnsemblClinVar.1
Natural variantiVAR_064036287G → V in HP3. 1 PublicationCorresponds to variant dbSNP:rs138207257EnsemblClinVar.1
Natural variantiVAR_064037315Missing in HP3. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
112817

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
HOGA1

MalaCards human disease database

More...
MalaCardsi
HOGA1
MIMi613616 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000241935

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93600 Primary hyperoxaluria type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165548441

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86XE5 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5996

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HOGA1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750531

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 25MitochondrionBy similarityAdd BLAST25
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000027334626 – 3274-hydroxy-2-oxoglutarate aldolase, mitochondrialAdd BLAST302

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86XE5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86XE5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86XE5

PeptideAtlas

More...
PeptideAtlasi
Q86XE5

PRoteomics IDEntifications database

More...
PRIDEi
Q86XE5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70271 [Q86XE5-1]
70272 [Q86XE5-3]

PTM databases

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86XE5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000241935 Expressed in kidney epithelium and 108 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86XE5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86XE5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000241935 Tissue enhanced (kidney, liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125207, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q86XE5, 16 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359680

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q86XE5

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q86XE5 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1327
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q86XE5

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni77 – 78Substrate binding2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DapA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJ4Q Eukaryota
COG0329 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063604

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1668837_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86XE5

KEGG Orthology (KO)

More...
KOi
K18123

Identification of Orthologs from Complete Genome Data

More...
OMAi
GMDACVP

Database of Orthologous Groups

More...
OrthoDBi
1238597at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86XE5

TreeFam database of animal gene trees

More...
TreeFami
TF324600

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.20.20.70, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013785 Aldolase_TIM
IPR002220 DapA-like
IPR020625 Schiff_base-form_aldolases_AS

The PANTHER Classification System

More...
PANTHERi
PTHR12128 PTHR12128, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00701 DHDPS, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001365 DHDPS, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00146 DHPICSNTHASE

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01130 DHDPS, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00666 DHDPS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:164
Mass (Da):17,954
Checksum:i5DC5ADF3B9A891B4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BY76H7BY76_HUMAN
4-hydroxy-2-oxoglutarate aldolase, ...
HOGA1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAC84901 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 dbSNP:rs267606764EnsemblClinVar.1
Natural variantiVAR_064036287G → V in HP3. 1 PublicationCorresponds to variant dbSNP:rs138207257EnsemblClinVar.1
Natural variantiVAR_064037315Missing in HP3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02251571 – 233Missing in isoform 2. 1 PublicationAdd BLAST163

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK289440 mRNA Translation: BAF82129.1
AL355315 Genomic DNA No translation available.
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44469.1 [Q86XE5-3]
CCDS7467.1 [Q86XE5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001128142.1, NM_001134670.1 [Q86XE5-3]
NP_612422.2, NM_138413.3 [Q86XE5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000370646; ENSP00000359680; ENSG00000241935 [Q86XE5-1]
ENST00000370647; ENSP00000359681; ENSG00000241935 [Q86XE5-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
112817

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:112817

UCSC genome browser

More...
UCSCi
uc001kny.4 human [Q86XE5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289440 mRNA Translation: BAF82129.1
AL355315 Genomic DNA No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S5NX-ray2.50A26-327[»]
3S5OX-ray1.97A26-327[»]
SMRiQ86XE5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi125207, 13 interactors
IntActiQ86XE5, 16 interactors
STRINGi9606.ENSP00000359680

Chemistry databases

BindingDBiQ86XE5
ChEMBLiCHEMBL5996

PTM databases

PhosphoSitePlusiQ86XE5

Polymorphism and mutation databases

BioMutaiHOGA1
DMDMi74750531

Proteomic databases

MassIVEiQ86XE5
MaxQBiQ86XE5
PaxDbiQ86XE5
PeptideAtlasiQ86XE5
PRIDEiQ86XE5
ProteomicsDBi70271 [Q86XE5-1]
70272 [Q86XE5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
55095 20 antibodies

The DNASU plasmid repository

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DNASUi
112817

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
112817
DisGeNETi112817

GeneCards: human genes, protein and diseases

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GeneCardsi
HOGA1
GeneReviewsiHOGA1
HGNCiHGNC:25155 HOGA1
HPAiENSG00000241935 Tissue enhanced (kidney, liver)
MalaCardsiHOGA1
MIMi613597 gene
613616 phenotype
neXtProtiNX_Q86XE5
OpenTargetsiENSG00000241935
Orphaneti93600 Primary hyperoxaluria type 3
PharmGKBiPA165548441

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IJ4Q Eukaryota
COG0329 LUCA
GeneTreeiENSGT00530000063604
HOGENOMiCLU_1668837_0_0_1
InParanoidiQ86XE5
KOiK18123
OMAiGMDACVP
OrthoDBi1238597at2759
PhylomeDBiQ86XE5
TreeFamiTF324600

Enzyme and pathway databases

BioCyciMetaCyc:G66-31234-MONOMER
BRENDAi4.1.3.16 2681
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HOGA1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
112817
PharosiQ86XE5 Tbio

Protein Ontology

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PROi
PR:Q86XE5
RNActiQ86XE5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000241935 Expressed in kidney epithelium and 108 other tissues
ExpressionAtlasiQ86XE5 baseline and differential
GenevisibleiQ86XE5 HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR002220 DapA-like
IPR020625 Schiff_base-form_aldolases_AS
PANTHERiPTHR12128 PTHR12128, 1 hit
PfamiView protein in Pfam
PF00701 DHDPS, 1 hit
PIRSFiPIRSF001365 DHDPS, 1 hit
PRINTSiPR00146 DHPICSNTHASE
SMARTiView protein in SMART
SM01130 DHDPS, 1 hit
PROSITEiView protein in PROSITE
PS00666 DHDPS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHOGA1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86XE5
Secondary accession number(s): A8K075
, Q5T680, Q5T684, Q711P0, Q8N9F2, Q96EV5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: June 1, 2003
Last modified: April 22, 2020
This is version 148 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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