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Protein

Hydroxymethylglutaryl-CoA synthase, mitochondrial

Gene

HMGCS2

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

This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: (R)-mevalonate biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes (R)-mevalonate from acetyl-CoA.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. 3-hydroxy-3-methylglutaryl coenzyme A synthase, 3-hydroxy-3-methylglutaryl coenzyme A synthase, 3-hydroxy-3-methylglutaryl coenzyme A synthase, 3-hydroxy-3-methylglutaryl coenzyme A synthase (HMGCS1), 3-hydroxy-3-methylglutaryl coenzyme A synthase, Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMGCS1), Hydroxymethylglutaryl-CoA synthase, mitochondrial (HMGCS2)
  3. 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR), 3-hydroxy-3-methylglutaryl coenzyme A reductase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR)
This subpathway is part of the pathway (R)-mevalonate biosynthesis, which is itself part of Metabolic intermediate biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (R)-mevalonate from acetyl-CoA, the pathway (R)-mevalonate biosynthesis and in Metabolic intermediate biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei80Substrate1
<p>This subsection of the ‘Function’ 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 sitei132Proton donor/acceptor1 Publication1
Active sitei166Acyl-thioester intermediatePROSITE-ProRule annotation1 Publication1
Binding sitei204Substrate1
Binding sitei258Substrate1
Active sitei301Proton donor/acceptor1 Publication1
Binding sitei380Substrate1

<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 functionTransferase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS05836-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.3.3.10 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1989781 PPARA activates gene expression
R-HSA-77111 Synthesis of Ketone Bodies

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00058;UER00102

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001249 [P54868-1]

<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_and_taxonomy_section">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:
Hydroxymethylglutaryl-CoA synthase, mitochondrial (EC:2.3.3.10)
Short name:
HMG-CoA synthase
Alternative name(s):
3-hydroxy-3-methylglutaryl coenzyme A synthase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HMGCS2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000134240.11

Human Gene Nomenclature Database

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HGNCi
HGNC:5008 HMGCS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600234 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P54868

<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; 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

3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.
See also OMIM:605911
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_03275754V → M in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs28937320EnsemblClinVar.1
Natural variantiVAR_032758167Y → C in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852640EnsemblClinVar.1
Natural variantiVAR_032711174F → L in HMGCS2D; reduced peptide level; no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs137852636EnsemblClinVar.1
Natural variantiVAR_032759212G → R in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852638EnsemblClinVar.1
Natural variantiVAR_032760500R → H in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852639EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3158

MalaCards human disease database

More...
MalaCardsi
HMGCS2
MIMi605911 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134240

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

More...
Orphaneti
35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29338

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HMGCS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1708234

<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 – 37MitochondrionCuratedAdd BLAST37
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001348338 – 508Hydroxymethylglutaryl-CoA synthase, mitochondrialAdd BLAST471

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei52N6-succinyllysineBy similarity1
Modified residuei83N6-acetyllysine; alternateBy similarity1
Modified residuei83N6-succinyllysine; alternateBy similarity1
Modified residuei221N6-succinyllysineBy similarity1
Modified residuei243N6-acetyllysineBy similarity1
Modified residuei256N6-acetyllysine; alternateBy similarity1
Modified residuei256N6-succinyllysine; alternateBy similarity1
Modified residuei306N6-acetyllysineBy similarity1
Modified residuei310N6-acetyllysine; alternateBy similarity1
Modified residuei310N6-succinyllysine; alternateBy similarity1
Modified residuei333N6-succinyllysineBy similarity1
Modified residuei342N6-acetyllysine; alternateBy similarity1
Modified residuei342N6-succinyllysine; alternateBy similarity1
Modified residuei350N6-acetyllysine; alternateBy similarity1
Modified residuei350N6-succinyllysine; alternateBy similarity1
Modified residuei354N6-acetyllysine; alternateBy similarity1
Modified residuei354N6-succinyllysine; alternateBy similarity1
Modified residuei358N6-acetyllysine; alternateBy similarity1
Modified residuei358N6-succinyllysine; alternateBy similarity1
Modified residuei433PhosphoserineCombined sources1
Modified residuei437N6-acetyllysineBy similarity1
Modified residuei440PhosphoserineCombined sources1
Modified residuei447N6-acetyllysine; alternateBy similarity1
Modified residuei447N6-succinyllysine; alternateBy similarity1
Modified residuei456PhosphoserineBy similarity1
Modified residuei473N6-acetyllysine; alternateBy similarity1
Modified residuei473N6-succinyllysine; alternateBy similarity1
Modified residuei477PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Succinylated. Desuccinylated by SIRT5. Succinylation, at least at Lys-83 and Lys-310, inhibits the enzymatic activity.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P54868

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

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PaxDbi
P54868

PeptideAtlas

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PeptideAtlasi
P54868

PRoteomics IDEntifications database

More...
PRIDEi
P54868

ProteomicsDB human proteome resource

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ProteomicsDBi
56743
56744 [P54868-2]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00008934

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P54868

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

More...
PhosphoSitePlusi
P54868

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P54868

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain. The relative expression of isoform 3 (at mRNA level) is highest in heart (70%) and skeletal muscle (60%).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134240 Expressed in 143 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

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CleanExi
HS_HMGCS2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54868 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54868 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB032906
HPA027423
HPA027442

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109401, 7 interactors

Protein interaction database and analysis system

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IntActi
P54868, 1 interactor

Molecular INTeraction database

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MINTi
P54868

STRING: functional protein association networks

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STRINGi
9606.ENSP00000358414

<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

1508
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54868

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

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SMRi
P54868

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P54868

<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

<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 HMG-CoA synthase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1393 Eukaryota
COG3425 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000006096

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000012351

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051912

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54868

KEGG Orthology (KO)

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KOi
K01641

Identification of Orthologs from Complete Genome Data

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OMAi
DLQFMIF

Database of Orthologous Groups

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OrthoDBi
EOG091G0791

Database for complete collections of gene phylogenies

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PhylomeDBi
P54868

TreeFam database of animal gene trees

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TreeFami
TF105361

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.47.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000590 HMG_CoA_synt_AS
IPR013746 HMG_CoA_synt_C_dom
IPR013528 HMG_CoA_synth_N
IPR010122 HMG_CoA_synthase_euk
IPR016039 Thiolase-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08540 HMG_CoA_synt_C, 1 hit
PF01154 HMG_CoA_synt_N, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53901 SSF53901, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01833 HMG-CoA-S_euk, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01226 HMG_COA_SYNTHASE, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P54868-1) [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
MQRLLTPVKR ILQLTRAVQE TSLTPARLLP VAHQRFSTAS AVPLAKTDTW
60 70 80 90 100
PKDVGILALE VYFPAQYVDQ TDLEKYNNVE AGKYTVGLGQ TRMGFCSVQE
110 120 130 140 150
DINSLCLTVV QRLMERIQLP WDSVGRLEVG TETIIDKSKA VKTVLMELFQ
160 170 180 190 200
DSGNTDIEGI DTTNACYGGT ASLFNAANWM ESSSWDGRYA MVVCGDIAVY
210 220 230 240 250
PSGNARPTGG AGAVAMLIGP KAPLALERGL RGTHMENVYD FYKPNLASEY
260 270 280 290 300
PIVDGKLSIQ CYLRALDRCY TSYRKKIQNQ WKQAGSDRPF TLDDLQYMIF
310 320 330 340 350
HTPFCKMVQK SLARLMFNDF LSASSDTQTS LYKGLEAFGG LKLEDTYTNK
360 370 380 390 400
DLDKALLKAS QDMFDKKTKA SLYLSTHNGN MYTSSLYGCL ASLLSHHSAQ
410 420 430 440 450
ELAGSRIGAF SYGSGLAASF FSFRVSQDAA PGSPLDKLVS STSDLPKRLA
460 470 480 490 500
SRKCVSPEEF TEIMNQREQF YHKVNFSPPG DTNSLFPGTW YLERVDEQHR

RKYARRPV
Length:508
Mass (Da):56,635
Last modified:October 1, 1996 - 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:iBD362D631F7C3C80
GO
Isoform 2 (identifier: P54868-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     187-228: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):52,482
Checksum:i9D3C527559B74618
GO
Isoform 3 (identifier: P54868-3) [UniParc]FASTAAdd to basket
Also known as: HMGCS2delta4

The sequence of this isoform differs from the canonical sequence as follows:
     229-283: Missing.

Show »
Length:453
Mass (Da):50,050
Checksum:i80C1D1EBB7403EC0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti234H → Y in CAG33131 (Ref. 3) Curated1
Sequence conflicti385S → T in CAG33131 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03275754V → M in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs28937320EnsemblClinVar.1
Natural variantiVAR_032758167Y → C in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852640EnsemblClinVar.1
Natural variantiVAR_032711174F → L in HMGCS2D; reduced peptide level; no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs137852636EnsemblClinVar.1
Natural variantiVAR_032759212G → R in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852638EnsemblClinVar.1
Natural variantiVAR_032760500R → H in HMGCS2D. 1 PublicationCorresponds to variant dbSNP:rs137852639EnsemblClinVar.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_042892187 – 228Missing in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_047445229 – 283Missing in isoform 3. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X83618 mRNA Translation: CAA58593.1
U81859
, U81851, U81852, U81853, U81854, U81855, U81856, U81857, U81858 Genomic DNA Translation: AAB72036.1
CR456850 mRNA Translation: CAG33131.1
AK303777 mRNA Translation: BAH14049.1
AL589734 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56709.1
BC044217 mRNA Translation: AAH44217.1
U12788 mRNA Translation: AAA92673.1
U12789 mRNA Translation: AAA92674.1
GU433940 mRNA Translation: ADD21696.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS53353.1 [P54868-2]
CCDS905.1 [P54868-1]

Protein sequence database of the Protein Information Resource

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PIRi
S71623

NCBI Reference Sequences

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RefSeqi
NP_001159579.1, NM_001166107.1 [P54868-2]
NP_005509.1, NM_005518.3 [P54868-1]
XP_011539615.1, XM_011541313.1 [P54868-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.59889

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000369406; ENSP00000358414; ENSG00000134240 [P54868-1]
ENST00000544913; ENSP00000439495; ENSG00000134240 [P54868-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3158

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3158

UCSC genome browser

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UCSCi
uc001eid.4 human [P54868-1]

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
X83618 mRNA Translation: CAA58593.1
U81859
, U81851, U81852, U81853, U81854, U81855, U81856, U81857, U81858 Genomic DNA Translation: AAB72036.1
CR456850 mRNA Translation: CAG33131.1
AK303777 mRNA Translation: BAH14049.1
AL589734 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56709.1
BC044217 mRNA Translation: AAH44217.1
U12788 mRNA Translation: AAA92673.1
U12789 mRNA Translation: AAA92674.1
GU433940 mRNA Translation: ADD21696.1
CCDSiCCDS53353.1 [P54868-2]
CCDS905.1 [P54868-1]
PIRiS71623
RefSeqiNP_001159579.1, NM_001166107.1 [P54868-2]
NP_005509.1, NM_005518.3 [P54868-1]
XP_011539615.1, XM_011541313.1 [P54868-3]
UniGeneiHs.59889

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
2WYAX-ray1.70A/B/C/D51-508[»]
ProteinModelPortaliP54868
SMRiP54868
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109401, 7 interactors
IntActiP54868, 1 interactor
MINTiP54868
STRINGi9606.ENSP00000358414

Chemistry databases

SwissLipidsiSLP:000001249 [P54868-1]

PTM databases

iPTMnetiP54868
PhosphoSitePlusiP54868
SwissPalmiP54868

Polymorphism and mutation databases

BioMutaiHMGCS2
DMDMi1708234

2D gel databases

REPRODUCTION-2DPAGEiIPI00008934

Proteomic databases

MaxQBiP54868
PaxDbiP54868
PeptideAtlasiP54868
PRIDEiP54868
ProteomicsDBi56743
56744 [P54868-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369406; ENSP00000358414; ENSG00000134240 [P54868-1]
ENST00000544913; ENSP00000439495; ENSG00000134240 [P54868-2]
GeneIDi3158
KEGGihsa:3158
UCSCiuc001eid.4 human [P54868-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3158
DisGeNETi3158
EuPathDBiHostDB:ENSG00000134240.11

GeneCards: human genes, protein and diseases

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GeneCardsi
HMGCS2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0160007
HGNCiHGNC:5008 HMGCS2
HPAiCAB032906
HPA027423
HPA027442
MalaCardsiHMGCS2
MIMi600234 gene
605911 phenotype
neXtProtiNX_P54868
OpenTargetsiENSG00000134240
Orphaneti35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
PharmGKBiPA29338

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1393 Eukaryota
COG3425 LUCA
GeneTreeiENSGT00390000006096
HOGENOMiHOG000012351
HOVERGENiHBG051912
InParanoidiP54868
KOiK01641
OMAiDLQFMIF
OrthoDBiEOG091G0791
PhylomeDBiP54868
TreeFamiTF105361

Enzyme and pathway databases

UniPathwayi
UPA00058;UER00102

BioCyciMetaCyc:HS05836-MONOMER
BRENDAi2.3.3.10 2681
ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-77111 Synthesis of Ketone Bodies

Miscellaneous databases

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

More...
ChiTaRSi
HMGCS2 human
EvolutionaryTraceiP54868

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

More...
GenomeRNAii
3158

Protein Ontology

More...
PROi
PR:P54868

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134240 Expressed in 143 organ(s), highest expression level in right lobe of liver
CleanExiHS_HMGCS2
ExpressionAtlasiP54868 baseline and differential
GenevisibleiP54868 HS

Family and domain databases

Gene3Di3.40.47.10, 1 hit
InterProiView protein in InterPro
IPR000590 HMG_CoA_synt_AS
IPR013746 HMG_CoA_synt_C_dom
IPR013528 HMG_CoA_synth_N
IPR010122 HMG_CoA_synthase_euk
IPR016039 Thiolase-like
PfamiView protein in Pfam
PF08540 HMG_CoA_synt_C, 1 hit
PF01154 HMG_CoA_synt_N, 1 hit
SUPFAMiSSF53901 SSF53901, 2 hits
TIGRFAMsiTIGR01833 HMG-CoA-S_euk, 1 hit
PROSITEiView protein in PROSITE
PS01226 HMG_COA_SYNTHASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiHMCS2_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: P54868
Secondary accession number(s): B7Z8R3
, D3Y5K6, Q5SZU2, Q6IBF4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 5, 2018
This is version 175 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, Complete proteome, Reference proteome

Documents

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