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UniProtKB - Q8TB92 (HMGC2_HUMAN)

Entry version 148 (10 Feb 2021)
Sequence version 3 (20 May 2008)
Previous versions | rss
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Protein

3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic

Gene

HMGCLL1

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

Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues.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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

a divalent metal cation1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=40 µM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 9)1 Publication
  2. KM=75 µM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 8)1 Publication
  3. KM=28 µM for (S)-3-hydroxy-3-methylglutaryl-CoA1 Publication
  4. KM=49 µM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of magnesium)1 Publication
  5. KM=0.18 µM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of manganese)1 Publication
  1. Vmax=12 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl-CoA as substrate at pH 91 Publication
  2. Vmax=25 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl-CoA as substrate at pH 81 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: (S)-3-hydroxy-3-methylglutaryl-CoA degradation

This protein is involved in step 1 of the subpathway that synthesizes acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA.
Proteins known to be involved in this subpathway in this organism are:
  1. Hydroxymethylglutaryl-CoA lyase, Hydroxymethylglutaryl-CoA lyase, mitochondrial (HMGCL), Hydroxymethylglutaryl-CoA lyase (DKFZp434G1411), 3-hydroxy-3-methylglutarate-CoA lyase (HMGCL), 3-hydroxy-3-methylglutarate-CoA lyase (HMGCL), 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (HMGCLL1), Hydroxymethylglutaryl-CoA lyase (HMGCLL1), Hydroxymethylglutaryl-CoA lyase (HMGCLL1), Hydroxymethylglutaryl-CoA lyase (HMGCLL1)
This subpathway is part of the pathway (S)-3-hydroxy-3-methylglutaryl-CoA degradation, which is itself part of Metabolic intermediate metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA, the pathway (S)-3-hydroxy-3-methylglutaryl-CoA degradation and in Metabolic intermediate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei86SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi87Divalent metal cationBy similarity1
Metal bindingi278Divalent metal cationBy similarity1
Metal bindingi280Divalent metal cationBy similarity1
<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 sitei311By similarity1
Metal bindingi320Divalent metal cationBy similarity1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandMetal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8TB92

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-77111, Synthesis of Ketone Bodies

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q8TB92

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

More...UniPathwayi		UPA00896;UER00863

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001291 [Q8TB92-2]

<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:
3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (EC:4.1.3.42 Publications)
Alternative name(s):
3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1
Short name:
HMGCL-like 1
Endoplasmic reticulum 3-hydroxy-3-methylglutaryl-CoA lyase1 Publication
Short name:
er-cHL1 Publication
<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:HMGCLL1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21359, HMGCLL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		619050, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TB92

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000146151.12

<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

Cytoplasm, Endoplasmic reticulum, Membrane

<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

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>Mutagenesisi2G → A: Abolishes myristoylation and induces a subcellular location change. 1 Publication1
Mutagenesisi86R → Q: Abolishes catalytic activity. 1 Publication1
Mutagenesisi237L → S: Abolishes catalytic activity. 1 Publication1
Mutagenesisi278H → R: Abolishes catalytic activity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		54511

Open Targets

More...OpenTargetsi		ENSG00000146151

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134989971

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TB92, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HMGCLL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		189028466

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<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_00003346692 – 3703-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmicAdd BLAST369

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TB92

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TB92

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

More...PaxDbi		Q8TB92

PeptideAtlas

More...PeptideAtlasi		Q8TB92

PRoteomics IDEntifications database

More...PRIDEi		Q8TB92

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		29914
73974 [Q8TB92-1]
73975 [Q8TB92-2]
73976 [Q8TB92-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TB92

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

More...PhosphoSitePlusi		Q8TB92

<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		ENSG00000146151, Expressed in cortical plate and 155 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TB92, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TB92, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000146151, Tissue enhanced (brain, pituitary gland)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120006, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q8TB92, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000381654

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TB92, 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

3D structure databases

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

More...SMRi		Q8TB92

Database of comparative protein structure models

More...ModBasei		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini78 – 345Pyruvate carboxyltransferasePROSITE-ProRule annotationAdd BLAST268

<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 lyase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2368, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159467

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_214024_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TB92

Identification of Orthologs from Complete Genome Data

More...OMAi		DGHSRAN

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TB92

TreeFam database of animal gene trees

More...TreeFami		TF105363

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
IPR030021, ER-cHL
IPR043594, HMGL
IPR000891, PYR_CT

The PANTHER Classification System

More...PANTHERi		PTHR42738, PTHR42738, 1 hit
PTHR42738:SF5, PTHR42738:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00682, HMGL-like, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50991, PYR_CT, 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 (4+)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 4 <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 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TB92-1) [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
MGNVPSAVKH CLSYQQLLRE HLWIGDSVAG ALDPAQTSLL TNLHCFQPDV 
        60         70         80         90        100
SGFSVSLAGT VACIHWETSQ LSGLPEFVKI VEVGPRDGLQ NEKVIVPTDI 
       110        120        130        140        150
KIEFINRLSQ TGLSVIEVTS FVSSRWVPQM ADHTEVMKGI HQYPGVRYPV 
       160        170        180        190        200
LTPNLQGFHH AVAAGATEIS VFGAASESFS KKNINCSIEE SMGKFEEVVK 
       210        220        230        240        250
SARHMNIPAR GYVSCALGCP YEGSITPQKV TEVSKRLYGM GCYEISLGDT 
       260        270        280        290        300
IGVGTPGSMK RMLESVMKEI PPGALAVHCH DTYGQALANI LTALQMGINV 
       310        320        330        340        350
VDSAVSGLGG CPYAKGASGN VATEDLIYML NGLGLNTGVN LYKVMEAGDF 
       360        370
ICKAVNKTTN SKVAQASFNA
Length:370
Mass (Da):39,514
Last modified:May 20, 2008 - v3
<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:i7DDEE81555E092A1
GO
Isoform 2 (identifier: Q8TB92-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-66: Missing.

Show »
Length:340
Mass (Da):36,328
Checksum:i6F175387821614CC
GO
Isoform 3 (identifier: Q8TB92-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-53: TSLLTNLHCFQPDVSGF → ELQSVMLMLHHGPLRKP
     54-370: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:53
Mass (Da):5,874
Checksum:i16F3265215AF8A2A
GO
Isoform 4 (identifier: Q8TB92-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-66: Missing.
     130-161: Missing.

Show »
Length:308
Mass (Da):32,701
Checksum:i49ED9FE7EC8038BB
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 are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z212B7Z212_HUMAN
Hydroxymethylglutaryl-CoA lyase
HMGCLL1
237Annotation score:

Annotation score:2 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>
G5E9S9G5E9S9_HUMAN
Hydroxymethylglutaryl-CoA lyase
HMGCLL1 hCG_2001183
151Annotation score:

Annotation score:2 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>
B7Z4D4B7Z4D4_HUMAN
Hydroxymethylglutaryl-CoA lyase
HMGCLL1
174Annotation score:

Annotation score:2 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>
D6RHJ2D6RHJ2_HUMAN
3-hydroxy-3-methylglutaryl-CoA lyas...
HMGCLL1
39Annotation 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 BAC87045 differs from that shown. Reason: Frameshift.Curated
The sequence BAG51462 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

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 conflicti99D → G in BAH11613 (PubMed:14702039).Curated1

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_03375237 – 66Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_03802137 – 53TSLLT…DVSGF → ELQSVMLMLHHGPLRKP in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_03802254 – 370Missing in isoform 3. 1 PublicationAdd BLAST317
Alternative sequenceiVSP_044324130 – 161Missing in isoform 4. 1 PublicationAdd BLAST32

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
AK055075 mRNA Translation: BAG51462.1 Sequence problems.
AK127587 mRNA Translation: BAC87045.1 Frameshift.
AK293856 mRNA Translation: BAH11613.1
AL590290 Genomic DNA No translation available.
AL590406 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04442.1
CH471081 Genomic DNA Translation: EAX04444.1
BC024194 mRNA Translation: AAH24194.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43474.1 [Q8TB92-2]
CCDS43475.1 [Q8TB92-1]
CCDS75473.1 [Q8TB92-5]

NCBI Reference Sequences

More...RefSeqi		NP_001035865.1, NM_001042406.1 [Q8TB92-2]
NP_001274670.1, NM_001287741.1 [Q8TB92-5]
NP_001274675.1, NM_001287746.1
NP_061909.2, NM_019036.2 [Q8TB92-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000274901; ENSP00000274901; ENSG00000146151 [Q8TB92-2]
ENST00000308161; ENSP00000309737; ENSG00000146151 [Q8TB92-5]
ENST00000370852; ENSP00000359889; ENSG00000146151 [Q8TB92-4]
ENST00000398661; ENSP00000381654; ENSG00000146151 [Q8TB92-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54511

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54511

UCSC genome browser

More...UCSCi		uc003pcn.4, human [Q8TB92-1]

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
AK055075 mRNA Translation: BAG51462.1 Sequence problems.
AK127587 mRNA Translation: BAC87045.1 Frameshift.
AK293856 mRNA Translation: BAH11613.1
AL590290 Genomic DNA No translation available.
AL590406 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04442.1
CH471081 Genomic DNA Translation: EAX04444.1
BC024194 mRNA Translation: AAH24194.2
CCDSiCCDS43474.1 [Q8TB92-2]
CCDS43475.1 [Q8TB92-1]
CCDS75473.1 [Q8TB92-5]
RefSeqiNP_001035865.1, NM_001042406.1 [Q8TB92-2]
NP_001274670.1, NM_001287741.1 [Q8TB92-5]
NP_001274675.1, NM_001287746.1
NP_061909.2, NM_019036.2 [Q8TB92-1]

3D structure databases

SMRiQ8TB92
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120006, 8 interactors
IntActiQ8TB92, 2 interactors
STRINGi9606.ENSP00000381654

Chemistry databases

SwissLipidsiSLP:000001291 [Q8TB92-2]

PTM databases

iPTMnetiQ8TB92
PhosphoSitePlusiQ8TB92

Genetic variation databases

BioMutaiHMGCLL1
DMDMi189028466

Proteomic databases

MassIVEiQ8TB92
MaxQBiQ8TB92
PaxDbiQ8TB92
PeptideAtlasiQ8TB92
PRIDEiQ8TB92
ProteomicsDBi29914
73974 [Q8TB92-1]
73975 [Q8TB92-2]
73976 [Q8TB92-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31030, 55 antibodies

The DNASU plasmid repository

More...DNASUi		54511

Genome annotation databases

EnsembliENST00000274901; ENSP00000274901; ENSG00000146151 [Q8TB92-2]
ENST00000308161; ENSP00000309737; ENSG00000146151 [Q8TB92-5]
ENST00000370852; ENSP00000359889; ENSG00000146151 [Q8TB92-4]
ENST00000398661; ENSP00000381654; ENSG00000146151 [Q8TB92-1]
GeneIDi54511
KEGGihsa:54511
UCSCiuc003pcn.4, human [Q8TB92-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54511
DisGeNETi54511

GeneCards: human genes, protein and diseases

More...GeneCardsi		HMGCLL1
HGNCiHGNC:21359, HMGCLL1
HPAiENSG00000146151, Tissue enhanced (brain, pituitary gland)
MIMi619050, gene
neXtProtiNX_Q8TB92
OpenTargetsiENSG00000146151
PharmGKBiPA134989971
VEuPathDBiHostDB:ENSG00000146151.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2368, Eukaryota
GeneTreeiENSGT00940000159467
HOGENOMiCLU_214024_0_0_1
InParanoidiQ8TB92
OMAiDGHSRAN
PhylomeDBiQ8TB92
TreeFamiTF105363

Enzyme and pathway databases

UniPathwayiUPA00896;UER00863
PathwayCommonsiQ8TB92
ReactomeiR-HSA-77111, Synthesis of Ketone Bodies
SABIO-RKiQ8TB92

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54511, 31 hits in 868 CRISPR screens

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

More...ChiTaRSi		HMGCLL1, human

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

More...GenomeRNAii		54511
PharosiQ8TB92, Tbio

Protein Ontology

More...PROi		PR:Q8TB92
RNActiQ8TB92, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000146151, Expressed in cortical plate and 155 other tissues
ExpressionAtlasiQ8TB92, baseline and differential
GenevisibleiQ8TB92, HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785, Aldolase_TIM
IPR030021, ER-cHL
IPR043594, HMGL
IPR000891, PYR_CT
PANTHERiPTHR42738, PTHR42738, 1 hit
PTHR42738:SF5, PTHR42738:SF5, 1 hit
PfamiView protein in Pfam
PF00682, HMGL-like, 1 hit
PROSITEiView protein in PROSITE
PS50991, PYR_CT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiHMGC2_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: Q8TB92
Secondary accession number(s): B1AQ42
, B3KNV0, B7Z1S7, F8W793, Q6ZSA9
<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: May 20, 2008
Last sequence update: May 20, 2008
Last modified: February 10, 2021
This is version 148 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families
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