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Q96HY7

- DHTK1_HUMAN

UniProt

Q96HY7 - DHTK1_HUMAN

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
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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. tricarboxylic acid cycle Source: InterPro

    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

    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

    ArrayExpressiQ96HY7.
    BgeeiQ96HY7.
    CleanExiHS_DHTKD1.
    GenevestigatoriQ96HY7.

    Organism-specific databases

    HPAiHPA037950.

    Interactioni

    Protein-protein interaction databases

    BioGridi120698. 3 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.
    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

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    MASATAAAAR RGLGRALPLF WRGYQTERGV YGYRPRKPES REPQGALERP    50
    PVDHGLARLV TVYCEHGHKA AKINPLFTGQ ALLENVPEIQ ALVQTLQGPF 100
    HTAGLLNMGK EEASLEEVLV YLNQIYCGQI SIETSQLQSQ DEKDWFAKRF 150
    EELQKETFTT EERKHLSKLM LESQEFDHFL ATKFSTVKRY GGEGAESMMG 200
    FFHELLKMSA YSGITDVIIG MPHRGRLNLL TGLLQFPPEL MFRKMRGLSE 250
    FPENFSATGD VLSHLTSSVD LYFGAHHPLH VTMLPNPSHL EAVNPVAVGK 300
    TRGRQQSRQD GDYSPDNSAQ PGDRVICLQV HGDASFCGQG IVPETFTLSN 350
    LPHFRIGGSV HLIVNNQLGY TTPAERGRSS LYCSDIGKLV GCAIIHVNGD 400
    SPEEVVRATR LAFEYQRQFR KDVIIDLLCY RQWGHNELDE PFYTNPIMYK 450
    IIRARKSIPD TYAEHLIAGG LMTQEEVSEI KSSYYAKLND HLNNMAHYRP 500
    PALNLQAHWQ GLAQPEAQIT TWSTGVPLDL LRFVGMKSVE VPRELQMHSH 550
    LLKTHVQSRM EKMMDGIKLD WATAEALALG SLLAQGFNVR LSGQDVGRGT 600
    FSQRHAIVVC QETDDTYIPL NHMDPNQKGF LEVSNSPLSE EAVLGFEYGM 650
    SIESPKLLPL WEAQFGDFFN GAQIIFDTFI SGGEAKWLLQ SGIVILLPHG 700
    YDGAGPDHSS CRIERFLQMC DSAEEGVDGD TVNMFVVHPT TPAQYFHLLR 750
    RQMVRNFRKP LIVASPKMLL RLPAAVSTLQ EMAPGTTFNP VIGDSSVDPK 800
    KVKTLVFCSG KHFYSLVKQR ESLGAKKHDF AIIRVEELCP FPLDSLQQEM 850
    SKYKHVKDHI WSQEEPQNMG PWSFVSPRFE KQLACKLRLV GRPPLPVPAV 900
    GIGTVHLHQH EDILAKTFA 919
    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. 3 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 GC10P012028.
    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.
    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

    ArrayExpressi Q96HY7.
    Bgeei Q96HY7.
    CleanExi HS_DHTKD1.
    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

    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 1, 2014
    This is version 95 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