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Protein

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

Gene

DHTKD1

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

The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO2. It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).By similarity

<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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

<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

  • oxoglutarate dehydrogenase (succinyl-transferring) activity Source: GO_Central
  • thiamine pyrophosphate binding Source: InterPro

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 processGlycolysis
LigandThiamine pyrophosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS11585-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.4.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389661 Glyoxylate metabolism and glycine degradation

<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:
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial (EC:1.2.4.2)
Alternative name(s):
Dehydrogenase E1 and transketolase domain-containing protein 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:DHTKD1
Synonyms:KIAA1630
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000181192.11

Human Gene Nomenclature Database

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HGNCi
HGNC:23537 DHTKD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614984 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96HY7

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

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

Keywords - Cellular componenti

Mitochondrion

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 2Q (CMT2Q)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
See also OMIM:615025
2-aminoadipic 2-oxoadipic aciduria (AMOXAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.
See also OMIM:204750
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_069585729G → R in AMOXAD. 1 PublicationCorresponds to variant dbSNP:rs117225135EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
55526

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DHTKD1

MalaCards human disease database

More...
MalaCardsi
DHTKD1
MIMi204750 phenotype
615025 phenotype

Open Targets

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OpenTargetsi
ENSG00000181192

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

More...
Orphaneti
79154 2-aminoadipic 2-oxoadipic aciduria
329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134962952

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434477

<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_0000307936? – 919Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
<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

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 residuei183N6-succinyllysineBy similarity1
Modified residuei188N6-succinyllysineBy similarity1
Modified residuei800N6-succinyllysineBy similarity1
Modified residuei818N6-succinyllysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96HY7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96HY7

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

More...
PaxDbi
Q96HY7

PeptideAtlas

More...
PeptideAtlasi
Q96HY7

PRoteomics IDEntifications database

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PRIDEi
Q96HY7

ProteomicsDB human proteome resource

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ProteomicsDBi
76796

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96HY7

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

More...
PhosphoSitePlusi
Q96HY7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000181192 Expressed in 219 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_DHTKD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96HY7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96HY7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA037949
HPA037950
HPA066098

<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)

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BioGridi
120698, 17 interactors

Protein interaction database and analysis system

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IntActi
Q96HY7, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263035

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q96HY7

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

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SMRi
Q96HY7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

<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

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eggNOGi
KOG0450 Eukaryota
COG0567 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155262

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000259586

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001892

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96HY7

KEGG Orthology (KO)

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KOi
K15791

Identification of Orthologs from Complete Genome Data

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OMAi
QGINQEC

Database of Orthologous Groups

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OrthoDBi
EOG091G043R

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96HY7

TreeFam database of animal gene trees

More...
TreeFami
TF314198

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011603 2oxoglutarate_DH_E1
IPR001017 DH_E1
IPR031717 KGD_C
IPR029061 THDP-binding
IPR005475 Transketolase-like_Pyr-bd

The PANTHER Classification System

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PANTHERi
PTHR23152 PTHR23152, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00676 E1_dh, 1 hit
PF16870 OxoGdeHyase_C, 1 hit
PF02779 Transket_pyr, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000157 Oxoglu_dh_E1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00861 Transket_pyr, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52518 SSF52518, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00239 2oxo_dh_E1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q96HY7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASATAAAAR RGLGRALPLF WRGYQTERGV YGYRPRKPES REPQGALERP
60 70 80 90 100
PVDHGLARLV TVYCEHGHKA AKINPLFTGQ ALLENVPEIQ ALVQTLQGPF
110 120 130 140 150
HTAGLLNMGK EEASLEEVLV YLNQIYCGQI SIETSQLQSQ DEKDWFAKRF
160 170 180 190 200
EELQKETFTT EERKHLSKLM LESQEFDHFL ATKFSTVKRY GGEGAESMMG
210 220 230 240 250
FFHELLKMSA YSGITDVIIG MPHRGRLNLL TGLLQFPPEL MFRKMRGLSE
260 270 280 290 300
FPENFSATGD VLSHLTSSVD LYFGAHHPLH VTMLPNPSHL EAVNPVAVGK
310 320 330 340 350
TRGRQQSRQD GDYSPDNSAQ PGDRVICLQV HGDASFCGQG IVPETFTLSN
360 370 380 390 400
LPHFRIGGSV HLIVNNQLGY TTPAERGRSS LYCSDIGKLV GCAIIHVNGD
410 420 430 440 450
SPEEVVRATR LAFEYQRQFR KDVIIDLLCY RQWGHNELDE PFYTNPIMYK
460 470 480 490 500
IIRARKSIPD TYAEHLIAGG LMTQEEVSEI KSSYYAKLND HLNNMAHYRP
510 520 530 540 550
PALNLQAHWQ GLAQPEAQIT TWSTGVPLDL LRFVGMKSVE VPRELQMHSH
560 570 580 590 600
LLKTHVQSRM EKMMDGIKLD WATAEALALG SLLAQGFNVR LSGQDVGRGT
610 620 630 640 650
FSQRHAIVVC QETDDTYIPL NHMDPNQKGF LEVSNSPLSE EAVLGFEYGM
660 670 680 690 700
SIESPKLLPL WEAQFGDFFN GAQIIFDTFI SGGEAKWLLQ SGIVILLPHG
710 720 730 740 750
YDGAGPDHSS CRIERFLQMC DSAEEGVDGD TVNMFVVHPT TPAQYFHLLR
760 770 780 790 800
RQMVRNFRKP LIVASPKMLL RLPAAVSTLQ EMAPGTTFNP VIGDSSVDPK
810 820 830 840 850
KVKTLVFCSG KHFYSLVKQR ESLGAKKHDF AIIRVEELCP FPLDSLQQEM
860 870 880 890 900
SKYKHVKDHI WSQEEPQNMG PWSFVSPRFE KQLACKLRLV GRPPLPVPAV
910
GIGTVHLHQH EDILAKTFA
Length:919
Mass (Da):103,077
Last modified:May 18, 2010 - 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:iCD1E437F919324B6
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JWN1C9JWN1_HUMAN
Probable 2-oxoglutarate dehydrogena...
DHTKD1
307Annotation 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>
H7C149H7C149_HUMAN
Probable 2-oxoglutarate dehydrogena...
DHTKD1
214Annotation 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>
H7C1J3H7C1J3_HUMAN
Probable 2-oxoglutarate dehydrogena...
DHTKD1
160Annotation 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 BAB13456 differs from that shown. Chimeric cDNA. C-terminal exons are derived from the neighboring gene.Curated
The sequence BAB13456 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03671520F → L2 PublicationsCorresponds to variant dbSNP:rs1279138Ensembl.1
Natural variantiVAR_036716272Y → D2 PublicationsCorresponds to variant dbSNP:rs3740015Ensembl.1
Natural variantiVAR_036717308R → L1 PublicationCorresponds to variant dbSNP:rs17849603Ensembl.1
Natural variantiVAR_036718350N → D. Corresponds to variant dbSNP:rs34716552Ensembl.1
Natural variantiVAR_036719607I → M3 PublicationsCorresponds to variant dbSNP:rs2062988Ensembl.1
Natural variantiVAR_069585729G → R in AMOXAD. 1 PublicationCorresponds to variant dbSNP:rs117225135EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC073160 Genomic DNA No translation available.
BC002477 mRNA Translation: AAH02477.1
BC007955 mRNA Translation: AAH07955.1
AB046850 mRNA Translation: BAB13456.1 Sequence problems.
CR749726 mRNA Translation: CAH18489.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7087.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T50617

NCBI Reference Sequences

More...
RefSeqi
NP_061176.3, NM_018706.6

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.104980
Hs.568075

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263035; ENSP00000263035; ENSG00000181192

Database of genes from NCBI RefSeq genomes

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GeneIDi
55526

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55526

UCSC genome browser

More...
UCSCi
uc001ild.6 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AC073160 Genomic DNA No translation available.
BC002477 mRNA Translation: AAH02477.1
BC007955 mRNA Translation: AAH07955.1
AB046850 mRNA Translation: BAB13456.1 Sequence problems.
CR749726 mRNA Translation: CAH18489.1
CCDSiCCDS7087.1
PIRiT50617
RefSeqiNP_061176.3, NM_018706.6
UniGeneiHs.104980
Hs.568075

3D structure databases

ProteinModelPortaliQ96HY7
SMRiQ96HY7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120698, 17 interactors
IntActiQ96HY7, 7 interactors
STRINGi9606.ENSP00000263035

PTM databases

iPTMnetiQ96HY7
PhosphoSitePlusiQ96HY7

Polymorphism and mutation databases

DMDMi296434477

Proteomic databases

EPDiQ96HY7
MaxQBiQ96HY7
PaxDbiQ96HY7
PeptideAtlasiQ96HY7
PRIDEiQ96HY7
ProteomicsDBi76796

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263035; ENSP00000263035; ENSG00000181192
GeneIDi55526
KEGGihsa:55526
UCSCiuc001ild.6 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55526
DisGeNETi55526
EuPathDBiHostDB:ENSG00000181192.11

GeneCards: human genes, protein and diseases

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GeneCardsi
DHTKD1
GeneReviewsiDHTKD1
HGNCiHGNC:23537 DHTKD1
HPAiHPA037949
HPA037950
HPA066098
MalaCardsiDHTKD1
MIMi204750 phenotype
614984 gene
615025 phenotype
neXtProtiNX_Q96HY7
OpenTargetsiENSG00000181192
Orphaneti79154 2-aminoadipic 2-oxoadipic aciduria
329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q
PharmGKBiPA134962952

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0450 Eukaryota
COG0567 LUCA
GeneTreeiENSGT00940000155262
HOGENOMiHOG000259586
HOVERGENiHBG001892
InParanoidiQ96HY7
KOiK15791
OMAiQGINQEC
OrthoDBiEOG091G043R
PhylomeDBiQ96HY7
TreeFamiTF314198

Enzyme and pathway databases

BioCyciMetaCyc:HS11585-MONOMER
BRENDAi1.2.4.2 2681
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation

Miscellaneous databases

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

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ChiTaRSi
DHTKD1 human

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

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GenomeRNAii
55526

Protein Ontology

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PROi
PR:Q96HY7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000181192 Expressed in 219 organ(s), highest expression level in liver
CleanExiHS_DHTKD1
ExpressionAtlasiQ96HY7 baseline and differential
GenevisibleiQ96HY7 HS

Family and domain databases

InterProiView protein in InterPro
IPR011603 2oxoglutarate_DH_E1
IPR001017 DH_E1
IPR031717 KGD_C
IPR029061 THDP-binding
IPR005475 Transketolase-like_Pyr-bd
PANTHERiPTHR23152 PTHR23152, 1 hit
PfamiView protein in Pfam
PF00676 E1_dh, 1 hit
PF16870 OxoGdeHyase_C, 1 hit
PF02779 Transket_pyr, 1 hit
PIRSFiPIRSF000157 Oxoglu_dh_E1, 1 hit
SMARTiView protein in SMART
SM00861 Transket_pyr, 1 hit
SUPFAMiSSF52518 SSF52518, 2 hits
TIGRFAMsiTIGR00239 2oxo_dh_E1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiDHTK1_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: Q96HY7
Secondary accession number(s): Q68CU5, Q9BUM8, Q9HCE2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 131 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, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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