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Entry version 158 (29 Sep 2021)
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

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS07581-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.62, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q53GQ0

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000149084

<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

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, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5998

Genetic variation 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 or proteolytic cleavage.<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

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q53GQ0, 1 site, 1 O-linked glycan (1 site)

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 testis and 248 other tissues

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
ENSG00000149084, Low tissue specificity

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

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119328, 106 interactors

Protein interaction database and analysis system

More...
IntActi
Q53GQ0, 48 interactors

Molecular INTeraction database

More...
MINTi
Q53GQ0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000278353

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q53GQ0, 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

<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

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154860

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_010194_38_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q53GQ0

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.

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
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>
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>
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

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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
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

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CCDSi
CCDS7905.1 [Q53GQ0-1]

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
51144

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51144

UCSC genome browser

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UCSCi
uc001mxq.5, human [Q53GQ0-1]

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
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

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi119328, 106 interactors
IntActiQ53GQ0, 48 interactors
MINTiQ53GQ0
STRINGi9606.ENSP00000278353

Chemistry databases

ChEMBLiCHEMBL5998
SwissLipidsiSLP:000000433

PTM databases

GlyGeniQ53GQ0, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ53GQ0
PhosphoSitePlusiQ53GQ0
SwissPalmiQ53GQ0

Genetic variation databases

BioMutaiHSD17B12
DMDMi158931120

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
3090, 207 antibodies

The DNASU plasmid repository

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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

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CTDi
51144
DisGeNETi51144

GeneCards: human genes, protein and diseases

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GeneCardsi
HSD17B12
HGNCiHGNC:18646, HSD17B12
HPAiENSG00000149084, Low tissue specificity
MIMi609574, gene
neXtProtiNX_Q53GQ0
OpenTargetsiENSG00000149084
PharmGKBiPA38618
VEuPathDBiHostDB:ENSG00000149084

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1014, Eukaryota
GeneTreeiENSGT00940000154860
HOGENOMiCLU_010194_38_0_1
InParanoidiQ53GQ0
OMAiVTTAMSK
OrthoDBi895581at2759
PhylomeDBiQ53GQ0
TreeFamiTF314591

Enzyme and pathway databases

UniPathwayiUPA00094
UPA00769
BioCyciMetaCyc:HS07581-MONOMER
BRENDAi1.1.1.62, 2681
PathwayCommonsiQ53GQ0
ReactomeiR-HSA-193048, Androgen biosynthesis
R-HSA-75876, Synthesis of very long-chain fatty acyl-CoAs
SABIO-RKiQ53GQ0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
51144, 355 hits in 1035 CRISPR screens

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

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ChiTaRSi
HSD17B12, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HSD17B12

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

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GenomeRNAii
51144
PharosiQ53GQ0, Tbio

Protein Ontology

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PROi
PR:Q53GQ0
RNActiQ53GQ0, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000149084, Expressed in testis and 248 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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: September 29, 2021
This is version 158 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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