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Q96HY7

- DHTK1_HUMAN

UniProt

Q96HY7 - DHTK1_HUMAN

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Protein

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

Gene

DHTKD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Thiamine pyrophosphate.By similarity

GO - Molecular functioni

  1. oxoglutarate dehydrogenase (succinyl-transferring) activity Source: UniProtKB-EC
  2. thiamine pyrophosphate binding Source: InterPro

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. generation of precursor metabolites and energy Source: UniProtKB
  3. glycolytic process Source: UniProtKB-KW
  4. hematopoietic progenitor cell differentiation Source: Ensembl
  5. tricarboxylic acid cycle Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Glycolysis

Keywords - Ligandi

Thiamine pyrophosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS11585-MONOMER.

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:23537. DHTKD1.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti729 – 7291G → R in AMOXAD. 1 Publication
VAR_069585

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 919Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialPRO_0000307936
Transit peptidei1 – ?MitochondrionSequence Analysis

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei183 – 1831N6-succinyllysineBy similarity
Modified residuei188 – 1881N6-succinyllysineBy similarity
Modified residuei800 – 8001N6-succinyllysineBy similarity
Modified residuei818 – 8181N6-succinyllysineBy similarity

Proteomic databases

MaxQBiQ96HY7.
PaxDbiQ96HY7.
PRIDEiQ96HY7.

PTM databases

PhosphoSiteiQ96HY7.

Expressioni

Gene expression databases

BgeeiQ96HY7.
CleanExiHS_DHTKD1.
ExpressionAtlasiQ96HY7. baseline and differential.
GenevestigatoriQ96HY7.

Organism-specific databases

HPAiHPA037950.

Interactioni

Protein-protein interaction databases

BioGridi120698. 7 interactions.
STRINGi9606.ENSP00000263035.

Structurei

3D structure databases

ProteinModelPortaliQ96HY7.
SMRiQ96HY7. Positions 58-919.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0567.
GeneTreeiENSGT00530000063092.
HOGENOMiHOG000259586.
HOVERGENiHBG001892.
InParanoidiQ96HY7.
KOiK15791.
OMAiLCSGKHY.
OrthoDBiEOG7CZK4Z.
PhylomeDBiQ96HY7.
TreeFamiTF314198.

Family and domain databases

Gene3Di3.40.50.970. 2 hits.
InterProiIPR011603. 2oxoglutarate_DH_E1.
IPR001017. DH_E1.
IPR029061. THDP-binding.
IPR005475. Transketolase-like_Pyr-bd.
[Graphical view]
PANTHERiPTHR23152. PTHR23152. 1 hit.
PfamiPF00676. E1_dh. 1 hit.
PF02779. Transket_pyr. 1 hit.
[Graphical view]
PIRSFiPIRSF000157. Oxoglu_dh_E1. 1 hit.
SMARTiSM00861. Transket_pyr. 1 hit.
[Graphical view]
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 BAB13456.1 differs from that shown. Reason: Chimeric cDNA. C-terminal exons are derived from the neighboring gene.
The sequence BAB13456.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201F → L.2 Publications
Corresponds to variant rs1279138 [ dbSNP | Ensembl ].
VAR_036715
Natural varianti272 – 2721Y → D.2 Publications
Corresponds to variant rs3740015 [ dbSNP | Ensembl ].
VAR_036716
Natural varianti308 – 3081R → L.1 Publication
Corresponds to variant rs17849603 [ dbSNP | Ensembl ].
VAR_036717
Natural varianti350 – 3501N → D.
Corresponds to variant rs34716552 [ dbSNP | Ensembl ].
VAR_036718
Natural varianti607 – 6071I → M.3 Publications
Corresponds to variant rs2062988 [ dbSNP | Ensembl ].
VAR_036719
Natural varianti729 – 7291G → R in AMOXAD. 1 Publication
VAR_069585

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.5. human.

Polymorphism databases

DMDMi296434477.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7087.1.
PIRi T50617.
RefSeqi NP_061176.3. NM_018706.6.
UniGenei Hs.104980.
Hs.568075.

3D structure databases

ProteinModelPortali Q96HY7.
SMRi Q96HY7. Positions 58-919.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120698. 7 interactions.
STRINGi 9606.ENSP00000263035.

PTM databases

PhosphoSitei Q96HY7.

Polymorphism databases

DMDMi 296434477.

Proteomic databases

MaxQBi Q96HY7.
PaxDbi Q96HY7.
PRIDEi Q96HY7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263035 ; ENSP00000263035 ; ENSG00000181192 .
GeneIDi 55526.
KEGGi hsa:55526.
UCSCi uc001ild.5. human.

Organism-specific databases

CTDi 55526.
GeneCardsi GC10P012110.
HGNCi HGNC:23537. DHTKD1.
HPAi HPA037950.
MIMi 204750. phenotype.
614984. gene.
615025. phenotype.
neXtProti NX_Q96HY7.
Orphaneti 79154. 2-aminoadipic 2-oxoadipic aciduria.
329258. Autosomal dominant Charcot-Marie-Tooth disease type 2Q.
PharmGKBi PA134962952.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0567.
GeneTreei ENSGT00530000063092.
HOGENOMi HOG000259586.
HOVERGENi HBG001892.
InParanoidi Q96HY7.
KOi K15791.
OMAi LCSGKHY.
OrthoDBi EOG7CZK4Z.
PhylomeDBi Q96HY7.
TreeFami TF314198.

Enzyme and pathway databases

BioCyci MetaCyc:HS11585-MONOMER.

Miscellaneous databases

ChiTaRSi DHTKD1. human.
GenomeRNAii 55526.
NextBioi 59950.
PROi Q96HY7.
SOURCEi Search...

Gene expression databases

Bgeei Q96HY7.
CleanExi HS_DHTKD1.
ExpressionAtlasi Q96HY7. baseline and differential.
Genevestigatori Q96HY7.

Family and domain databases

Gene3Di 3.40.50.970. 2 hits.
InterProi IPR011603. 2oxoglutarate_DH_E1.
IPR001017. DH_E1.
IPR029061. THDP-binding.
IPR005475. Transketolase-like_Pyr-bd.
[Graphical view ]
PANTHERi PTHR23152. PTHR23152. 1 hit.
Pfami PF00676. E1_dh. 1 hit.
PF02779. Transket_pyr. 1 hit.
[Graphical view ]
PIRSFi PIRSF000157. Oxoglu_dh_E1. 1 hit.
SMARTi SM00861. Transket_pyr. 1 hit.
[Graphical view ]
SUPFAMi SSF52518. SSF52518. 2 hits.
TIGRFAMsi TIGR00239. 2oxo_dh_E1. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LEU-20; ASP-272; LEU-308 AND MET-607.
    Tissue: Kidney and Uterus.
  3. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-886, VARIANTS LEU-20; ASP-272 AND MET-607.
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 380-919, VARIANT MET-607.
    Tissue: Melanoma.
  5. "A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree."
    Xu W.Y., Gu M.M., Sun L.H., Guo W.T., Zhu H.B., Ma J.F., Yuan W.T., Kuang Y., Ji B.J., Wu X.L., Chen Y., Zhang H.X., Sun F.T., Huang W., Huang L., Chen S.D., Wang Z.G.
    Am. J. Hum. Genet. 91:1088-1094(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CMT2Q, SUBCELLULAR LOCATION.
  6. Cited for: VARIANT AMOXAD ARG-729.

Entry informationi

Entry nameiDHTK1_HUMAN
AccessioniPrimary (citable) accession number: Q96HY7
Secondary accession number(s): Q68CU5, Q9BUM8, Q9HCE2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 96 of the entry and version 2 of the sequence. [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

External Data

Dasty 3