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Entry version 147 (16 Oct 2019)
Sequence version 2 (02 Oct 2007)
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Protein

Very-long-chain 3-oxoacyl-CoA reductase

Gene

HSD17B12

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 second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation.2 Publications

<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 ‘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=3.5 µM for estrone1 Publication

    <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: fatty acid biosynthesis

    This protein is involved in the pathway fatty acid biosynthesis, which is part of Lipid metabolism.1 Publication
    View all proteins of this organism that are known to be involved in the pathway fatty acid biosynthesis and in Lipid metabolism.

    Pathwayi: estrogen biosynthesis

    This protein is involved in the pathway estrogen biosynthesis, which is part of Steroid biosynthesis.1 Publication
    View all proteins of this organism that are known to be involved in the pathway estrogen biosynthesis and in Steroid biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei189SubstrateBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei202Proton acceptorPROSITE-ProRule annotation1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi50 – 79NADPBy similarityAdd BLAST30

    <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 functionOxidoreductase
    Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis
    LigandNADP

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.1.1.62 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-193048 Androgen biosynthesis
    R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q53GQ0

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

    More...
    UniPathwayi
    UPA00094
    UPA00769

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000433

    <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:
    Very-long-chain 3-oxoacyl-CoA reductaseCurated (EC:1.1.1.3301 Publication)
    Alternative name(s):
    17-beta-hydroxysteroid dehydrogenase 121 Publication
    Short name:
    17-beta-HSD 121 Publication
    3-ketoacyl-CoA reductase1 Publication
    Short name:
    KAR1 Publication
    Estradiol 17-beta-dehydrogenase 121 Publication (EC:1.1.1.621 Publication)
    Short chain dehydrogenase/reductase family 12C member 1
    <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:HSD17B12Imported
    Synonyms:SDR12C1
    <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 11

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:18646 HSD17B12

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    609574 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q53GQ0

    <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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
    Transmembranei182 – 202HelicalSequence analysisAdd BLAST21
    Transmembranei271 – 291HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    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_and_biotech_section">'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>Mutagenesisi196V → W: No effect. 1 Publication1
    Mutagenesisi234F → A: Allows the conversion of androstenedione to testosterone. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    51144

    Open Targets

    More...
    OpenTargetsi
    ENSG00000149084

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA38618

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q53GQ0

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL5998

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    HSD17B12

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    158931120

    <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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002483681 – 312Very-long-chain 3-oxoacyl-CoA reductaseAdd BLAST312

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q53GQ0

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q53GQ0

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q53GQ0

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q53GQ0

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

    More...
    PaxDbi
    Q53GQ0

    PeptideAtlas

    More...
    PeptideAtlasi
    Q53GQ0

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q53GQ0

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    62486 [Q53GQ0-1]
    76390

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q53GQ0

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

    More...
    PhosphoSitePlusi
    Q53GQ0

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q53GQ0

    <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

    Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in platelets.3 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000149084 Expressed in 238 organ(s), highest expression level in testis

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q53GQ0 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q53GQ0 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA016427

    <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

    Interacts with ELOVL1 and LASS2.

    1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    119328, 60 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q53GQ0, 29 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q53GQ0

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000278353

    <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
    Q53GQ0

    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

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi308 – 312Di-lysine motif5

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins.By similarity

    <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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1014 Eukaryota
    COG0300 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000154860

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000039237

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q53GQ0

    KEGG Orthology (KO)

    More...
    KOi
    K10251

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VTTAMSK

    Database of Orthologous Groups

    More...
    OrthoDBi
    895581at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q53GQ0

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314591

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR020904 Sc_DH/Rdtase_CS
    IPR002347 SDR_fam

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00106 adh_short, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00081 GDHRDH
    PR00080 SDRFAMILY

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF51735 SSF51735, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00061 ADH_SHORT, 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>. 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_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.

    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.<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 6 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q53GQ0-1) [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
    MESALPAAGF LYWVGAGTVA YLALRISYSL FTALRVWGVG NEAGVGPGLG
    60 70 80 90 100
    EWAVVTGSTD GIGKSYAEEL AKHGMKVVLI SRSKDKLDQV SSEIKEKFKV
    110 120 130 140 150
    ETRTIAVDFA SEDIYDKIKT GLAGLEIGIL VNNVGMSYEY PEYFLDVPDL
    160 170 180 190 200
    DNVIKKMINI NILSVCKMTQ LVLPGMVERS KGAILNISSG SGMLPVPLLT
    210 220 230 240 250
    IYSATKTFVD FFSQCLHEEY RSKGVFVQSV LPYFVATKLA KIRKPTLDKP
    260 270 280 290 300
    SPETFVKSAI KTVGLQSRTN GYLIHALMGS IISNLPSWIY LKIVMNMNKS
    310
    TRAHYLKKTK KN
    Length:312
    Mass (Da):34,324
    Last modified:October 2, 2007 - v2
    <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:i8518336D7F514E50
    GO
    Isoform 2 (identifier: Q53GQ0-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         95-98: KEKF → SNYT
         99-312: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:98
    Mass (Da):10,342
    Checksum:i2EEE844E7FDC97A1
    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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A1B0GV93A0A1B0GV93_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    276Annotation 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>
    A0A1B0GU83A0A1B0GU83_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    111Annotation 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>
    E9PI21E9PI21_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    164Annotation 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>
    A0A1B0GW85A0A1B0GW85_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    103Annotation 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>
    A0A1B0GVY6A0A1B0GVY6_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    178Annotation 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>
    A0A1B0GW27A0A1B0GW27_HUMAN
    Very-long-chain 3-oxoacyl-CoA reduc...
    HSD17B12
    57Annotation 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 AK027882 differs from that shown. Reason: Frameshift.Curated

    Natural variant

    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_027277280S → L3 PublicationsCorresponds to variant dbSNP:rs11555762Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05638095 – 98KEKF → SNYT in isoform 2. 1 Publication4
    Alternative sequenceiVSP_05638199 – 312Missing in isoform 2. 1 PublicationAdd BLAST214

    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
    AF078850 mRNA Translation: AAD44482.1
    AK027882 mRNA No translation available.
    AK074952 mRNA Translation: BAG52039.1
    AK075216 mRNA Translation: BAG52086.1
    AK222881 mRNA Translation: BAD96601.1
    AK292625 mRNA Translation: BAF85314.1
    AC023085 Genomic DNA No translation available.
    AC068205 Genomic DNA No translation available.
    AC087521 Genomic DNA No translation available.
    CH471064 Genomic DNA Translation: EAW68082.1
    CH471064 Genomic DNA Translation: EAW68087.1
    CH471064 Genomic DNA Translation: EAW68088.1
    BC012043 mRNA Translation: AAH12043.1
    BC012536 mRNA Translation: AAH12536.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS7905.1 [Q53GQ0-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_057226.1, NM_016142.2 [Q53GQ0-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000278353; ENSP00000278353; ENSG00000149084 [Q53GQ0-1]
    ENST00000395700; ENSP00000379052; ENSG00000149084 [Q53GQ0-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    51144

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:51144

    UCSC genome browser

    More...
    UCSCi
    uc001mxq.5 human [Q53GQ0-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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
    AF078850 mRNA Translation: AAD44482.1
    AK027882 mRNA No translation available.
    AK074952 mRNA Translation: BAG52039.1
    AK075216 mRNA Translation: BAG52086.1
    AK222881 mRNA Translation: BAD96601.1
    AK292625 mRNA Translation: BAF85314.1
    AC023085 Genomic DNA No translation available.
    AC068205 Genomic DNA No translation available.
    AC087521 Genomic DNA No translation available.
    CH471064 Genomic DNA Translation: EAW68082.1
    CH471064 Genomic DNA Translation: EAW68087.1
    CH471064 Genomic DNA Translation: EAW68088.1
    BC012043 mRNA Translation: AAH12043.1
    BC012536 mRNA Translation: AAH12536.1
    CCDSiCCDS7905.1 [Q53GQ0-1]
    RefSeqiNP_057226.1, NM_016142.2 [Q53GQ0-1]

    3D structure databases

    SMRiQ53GQ0
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi119328, 60 interactors
    IntActiQ53GQ0, 29 interactors
    MINTiQ53GQ0
    STRINGi9606.ENSP00000278353

    Chemistry databases

    ChEMBLiCHEMBL5998
    SwissLipidsiSLP:000000433

    PTM databases

    iPTMnetiQ53GQ0
    PhosphoSitePlusiQ53GQ0
    SwissPalmiQ53GQ0

    Polymorphism and mutation databases

    BioMutaiHSD17B12
    DMDMi158931120

    Proteomic databases

    EPDiQ53GQ0
    jPOSTiQ53GQ0
    MassIVEiQ53GQ0
    MaxQBiQ53GQ0
    PaxDbiQ53GQ0
    PeptideAtlasiQ53GQ0
    PRIDEiQ53GQ0
    ProteomicsDBi62486 [Q53GQ0-1]
    76390

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    51144

    Genome annotation databases

    EnsembliENST00000278353; ENSP00000278353; ENSG00000149084 [Q53GQ0-1]
    ENST00000395700; ENSP00000379052; ENSG00000149084 [Q53GQ0-2]
    GeneIDi51144
    KEGGihsa:51144
    UCSCiuc001mxq.5 human [Q53GQ0-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    51144
    DisGeNETi51144

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    HSD17B12
    HGNCiHGNC:18646 HSD17B12
    HPAiHPA016427
    MIMi609574 gene
    neXtProtiNX_Q53GQ0
    OpenTargetsiENSG00000149084
    PharmGKBiPA38618

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1014 Eukaryota
    COG0300 LUCA
    GeneTreeiENSGT00940000154860
    HOGENOMiHOG000039237
    InParanoidiQ53GQ0
    KOiK10251
    OMAiVTTAMSK
    OrthoDBi895581at2759
    PhylomeDBiQ53GQ0
    TreeFamiTF314591

    Enzyme and pathway databases

    UniPathwayiUPA00094
    UPA00769
    BRENDAi1.1.1.62 2681
    ReactomeiR-HSA-193048 Androgen biosynthesis
    R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
    SABIO-RKiQ53GQ0

    Miscellaneous databases

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

    More...
    ChiTaRSi
    HSD17B12 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    HSD17B12

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

    More...
    GenomeRNAii
    51144
    PharosiQ53GQ0

    Protein Ontology

    More...
    PROi
    PR:Q53GQ0

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000149084 Expressed in 238 organ(s), highest expression level in testis
    ExpressionAtlasiQ53GQ0 baseline and differential
    GenevisibleiQ53GQ0 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR020904 Sc_DH/Rdtase_CS
    IPR002347 SDR_fam
    PfamiView protein in Pfam
    PF00106 adh_short, 1 hit
    PRINTSiPR00081 GDHRDH
    PR00080 SDRFAMILY
    SUPFAMiSSF51735 SSF51735, 1 hit
    PROSITEiView protein in PROSITE
    PS00061 ADH_SHORT, 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 nameiDHB12_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: Q53GQ0
    Secondary accession number(s): A8K9B0
    , D3DR23, Q96EA9, Q96JU2, Q9Y6G8
    <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: September 5, 2006
    Last sequence update: October 2, 2007
    Last modified: October 16, 2019
    This is version 147 of the entry and version 2 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    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 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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