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Protein

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

Gene

DHTKD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO2.

Cofactori

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processGlycolysis
LigandThiamine pyrophosphate

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:DHTKD1
Synonyms:KIAA1630
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000181192.11
HGNCiHGNC:23537 DHTKD1
MIMi614984 gene
neXtProtiNX_Q96HY7

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

Pathology & Biotechi

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. Nerve conduction velocities are normal or slightly reduced.
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
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

DisGeNETi55526
MalaCardsiDHTKD1
MIMi204750 phenotype
615025 phenotype
OpenTargetsiENSG00000181192
Orphaneti79154 2-aminoadipic 2-oxoadipic aciduria
329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q
PharmGKBiPA134962952

Polymorphism and mutation databases

DMDMi296434477

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000307936? – 919Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei183N6-succinyllysineBy similarity1
Modified residuei188N6-succinyllysineBy similarity1
Modified residuei800N6-succinyllysineBy similarity1
Modified residuei818N6-succinyllysineBy similarity1

Proteomic databases

EPDiQ96HY7
MaxQBiQ96HY7
PaxDbiQ96HY7
PeptideAtlasiQ96HY7
PRIDEiQ96HY7

PTM databases

iPTMnetiQ96HY7
PhosphoSitePlusiQ96HY7

Expressioni

Gene expression databases

BgeeiENSG00000181192
CleanExiHS_DHTKD1
ExpressionAtlasiQ96HY7 baseline and differential
GenevisibleiQ96HY7 HS

Organism-specific databases

HPAiHPA037949
HPA037950
HPA066098

Interactioni

Protein-protein interaction databases

BioGridi120698, 17 interactors
IntActiQ96HY7, 7 interactors
STRINGi9606.ENSP00000263035

Structurei

3D structure databases

ProteinModelPortaliQ96HY7
SMRiQ96HY7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0450 Eukaryota
COG0567 LUCA
GeneTreeiENSGT00530000063092
HOGENOMiHOG000259586
HOVERGENiHBG001892
InParanoidiQ96HY7
KOiK15791
OMAiLCSGKHY
OrthoDBiEOG091G043R
PhylomeDBiQ96HY7
TreeFamiTF314198

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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:iCD1E437F919324B6
GO

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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDHTK1_HUMAN
AccessioniPrimary (citable) accession number: Q96HY7
Secondary accession number(s): Q68CU5, Q9BUM8, Q9HCE2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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