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Entry version 126 (12 Aug 2020)
Sequence version 1 (01 Mar 2003)
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Protein

Hydroxyacid-oxoacid transhydrogenase, mitochondrial

Gene

ADHFE1

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 cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.1 Publication

<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 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=0.17 mM for GHB1 Publication
  2. KM=1.2 mM for 2-KG1 Publication
  3. KM=0.12 mM for D-2-HG1 Publication
  4. KM=0.04 mM for SSA1 Publication
  5. KM=0.8 mM for L-3-OHB1 Publication
  1. Vmax=16 nmol/h/mg enzyme with GHB and 2-KG as substrates1 Publication
  2. Vmax=0.5 nmol/h/mg enzyme with SSA and D-2-HG as substrates1 Publication
  3. Vmax=1.8 nmol/h/mg enzyme with L-3-OHB and 2-KG as substrates1 Publication

pH dependencei

Optimum pH is 7.5.1 Publication

<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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.99.24, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8IWW8

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-880009, Interconversion of 2-oxoglutarate and 2-hydroxyglutarate

<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:
Hydroxyacid-oxoacid transhydrogenase, mitochondrial (EC:1.1.99.241 Publication)
Short name:
HOT
Alternative name(s):
Alcohol dehydrogenase iron-containing protein 1
Short name:
ADHFe1
Fe-containing alcohol dehydrogenase
<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:ADHFE1
ORF Names:HMFT2263
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000147576.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16354, ADHFE1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611083, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWW8

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

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

Keywords - Cellular componenti

Mitochondrion

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
137872

Open Targets

More...
OpenTargetsi
ENSG00000147576

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134871493

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IWW8, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4947

Drug and drug target database

More...
DrugBanki
DB09072, Sodium oxybate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ADHFE1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74714449

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis
<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_0000322996? – 467Hydroxyacid-oxoacid transhydrogenase, mitochondrial

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei445N6-acetyllysineBy similarity1
Modified residuei452PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IWW8

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

More...
PaxDbi
Q8IWW8

PeptideAtlas

More...
PeptideAtlasi
Q8IWW8

PRoteomics IDEntifications database

More...
PRIDEi
Q8IWW8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70916 [Q8IWW8-1]
70917 [Q8IWW8-2]
70918 [Q8IWW8-3]
70919 [Q8IWW8-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IWW8

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

More...
PhosphoSitePlusi
Q8IWW8

<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

Only expressed in adult liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147576, Expressed in placenta and 203 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IWW8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IWW8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000147576, Tissue enhanced (liver)

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126489, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IWW8, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379865

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IWW8, protein

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

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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3857, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003849

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007207_0_7_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IWW8

KEGG Orthology (KO)

More...
KOi
K11173

Identification of Orthologs from Complete Genome Data

More...
OMAi
DIWAIHA

Database of Orthologous Groups

More...
OrthoDBi
776004at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IWW8

TreeFam database of animal gene trees

More...
TreeFami
TF105710

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001670, ADH_Fe/GldA
IPR039697, Alcohol_dehydrogenase_Fe

The PANTHER Classification System

More...
PANTHERi
PTHR11496, PTHR11496, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00465, Fe-ADH, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IWW8-1) [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
MAAAARARVA YLLRQLQRAA CQCPTHSHTY SQAPGLSPSG KTTDYAFEMA
60 70 80 90 100
VSNIRYGAAV TKEVGMDLKN MGAKNVCLMT DKNLSKLPPV QVAMDSLVKN
110 120 130 140 150
GIPFTVYDNV RVEPTDSSFM EAIEFAQKGA FDAYVAVGGG STMDTCKAAN
160 170 180 190 200
LYASSPHSDF LDYVSAPIGK GKPVSVPLKP LIAVPTTSGT GSETTGVAIF
210 220 230 240 250
DYEHLKVKIG ITSRAIKPTL GLIDPLHTLH MPARVVANSG FDVLCHALES
260 270 280 290 300
YTTLPYHLRS PCPSNPITRP AYQGSNPISD IWAIHALRIV AKYLKRAVRN
310 320 330 340 350
PDDLEARSHM HLASAFAGIG FGNAGVHLCH GMSYPISGLV KMYKAKDYNV
360 370 380 390 400
DHPLVPHGLS VVLTSPAVFT FTAQMFPERH LEMAEILGAD TRTARIQDAG
410 420 430 440 450
LVLADTLRKF LFDLDVDDGL AAVGYSKADI PALVKGTLPQ ERVTKLAPCP
460
QSEEDLAALF EASMKLY
Length:467
Mass (Da):50,308
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC66E0EB15610A0E3
GO
Isoform 2 (identifier: Q8IWW8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Show »
Length:419
Mass (Da):45,129
Checksum:iF1EE897BD6B3B278
GO
Isoform 3 (identifier: Q8IWW8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     299-303: RNPDD → NSTDK
     304-467: Missing.

Show »
Length:303
Mass (Da):32,531
Checksum:iB2F4BA2C5EBB4625
GO
Isoform 4 (identifier: Q8IWW8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.
     299-303: RNPDD → NSTDK
     304-467: Missing.

Show »
Length:255
Mass (Da):27,353
Checksum:i7A5416F035CEB0EB
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DV11B4DV11_HUMAN
Alcohol dehydrogenase iron-containi...
ADHFE1
126Annotation 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>
B4DFI7B4DFI7_HUMAN
Alcohol dehydrogenase iron-containi...
ADHFE1
131Annotation 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>
F2Z2N0F2Z2N0_HUMAN
Hydroxyacid-oxoacid transhydrogenas...
ADHFE1
35Annotation 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>
F2Z3D8F2Z3D8_HUMAN
Hydroxyacid-oxoacid transhydrogenas...
ADHFE1
34Annotation 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>
F2Z3E5F2Z3E5_HUMAN
Hydroxyacid-oxoacid transhydrogenas...
ADHFE1
38Annotation 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>

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_039470242D → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_054015449C → R2 PublicationsCorresponds to variant dbSNP:rs1060242Ensembl.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_0319841 – 48Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST48
Alternative sequenceiVSP_031985299 – 303RNPDD → NSTDK in isoform 3 and isoform 4. 2 Publications5
Alternative sequenceiVSP_031986304 – 467Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST164

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
AY033237 mRNA Translation: AAK44223.1
AK056992 mRNA Translation: BAB71335.1
AK300243 mRNA Translation: BAG62010.1
CH471068 Genomic DNA Translation: EAW86902.1
CH471068 Genomic DNA Translation: EAW86903.1
CH471068 Genomic DNA Translation: EAW86907.1
BC064634 mRNA Translation: AAH64634.1
AB075879 mRNA Translation: BAD38661.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6190.2 [Q8IWW8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_653251.2, NM_144650.2 [Q8IWW8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000396623; ENSP00000379865; ENSG00000147576 [Q8IWW8-1]
ENST00000415254; ENSP00000407115; ENSG00000147576 [Q8IWW8-2]
ENST00000424777; ENSP00000410883; ENSG00000147576 [Q8IWW8-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
137872

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:137872

UCSC genome browser

More...
UCSCi
uc003xwb.5, human [Q8IWW8-1]

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
AY033237 mRNA Translation: AAK44223.1
AK056992 mRNA Translation: BAB71335.1
AK300243 mRNA Translation: BAG62010.1
CH471068 Genomic DNA Translation: EAW86902.1
CH471068 Genomic DNA Translation: EAW86903.1
CH471068 Genomic DNA Translation: EAW86907.1
BC064634 mRNA Translation: AAH64634.1
AB075879 mRNA Translation: BAD38661.1
CCDSiCCDS6190.2 [Q8IWW8-1]
RefSeqiNP_653251.2, NM_144650.2 [Q8IWW8-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi126489, 2 interactors
IntActiQ8IWW8, 3 interactors
STRINGi9606.ENSP00000379865

Chemistry databases

ChEMBLiCHEMBL4947
DrugBankiDB09072, Sodium oxybate

PTM databases

iPTMnetiQ8IWW8
PhosphoSitePlusiQ8IWW8

Polymorphism and mutation databases

BioMutaiADHFE1
DMDMi74714449

Proteomic databases

MassIVEiQ8IWW8
PaxDbiQ8IWW8
PeptideAtlasiQ8IWW8
PRIDEiQ8IWW8
ProteomicsDBi70916 [Q8IWW8-1]
70917 [Q8IWW8-2]
70918 [Q8IWW8-3]
70919 [Q8IWW8-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
11986, 108 antibodies

Genome annotation databases

EnsembliENST00000396623; ENSP00000379865; ENSG00000147576 [Q8IWW8-1]
ENST00000415254; ENSP00000407115; ENSG00000147576 [Q8IWW8-2]
ENST00000424777; ENSP00000410883; ENSG00000147576 [Q8IWW8-3]
GeneIDi137872
KEGGihsa:137872
UCSCiuc003xwb.5, human [Q8IWW8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
137872
DisGeNETi137872
EuPathDBiHostDB:ENSG00000147576.15

GeneCards: human genes, protein and diseases

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GeneCardsi
ADHFE1
HGNCiHGNC:16354, ADHFE1
HPAiENSG00000147576, Tissue enhanced (liver)
MIMi611083, gene
neXtProtiNX_Q8IWW8
OpenTargetsiENSG00000147576
PharmGKBiPA134871493

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3857, Eukaryota
GeneTreeiENSGT00390000003849
HOGENOMiCLU_007207_0_7_1
InParanoidiQ8IWW8
KOiK11173
OMAiDIWAIHA
OrthoDBi776004at2759
PhylomeDBiQ8IWW8
TreeFamiTF105710

Enzyme and pathway databases

BRENDAi1.1.99.24, 2681
PathwayCommonsiQ8IWW8
ReactomeiR-HSA-880009, Interconversion of 2-oxoglutarate and 2-hydroxyglutarate

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
137872, 19 hits in 871 CRISPR screens

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

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GenomeRNAii
137872
PharosiQ8IWW8, Tbio

Protein Ontology

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PROi
PR:Q8IWW8
RNActiQ8IWW8, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000147576, Expressed in placenta and 203 other tissues
ExpressionAtlasiQ8IWW8, baseline and differential
GenevisibleiQ8IWW8, HS

Family and domain databases

InterProiView protein in InterPro
IPR001670, ADH_Fe/GldA
IPR039697, Alcohol_dehydrogenase_Fe
PANTHERiPTHR11496, PTHR11496, 1 hit
PfamiView protein in Pfam
PF00465, Fe-ADH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiHOT_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: Q8IWW8
Secondary accession number(s): B4DTJ8
, Q49A19, Q68CI7, Q6P2B6, Q96MF9
<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: March 18, 2008
Last sequence update: March 1, 2003
Last modified: August 12, 2020
This is version 126 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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