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Q8NE62

- CHDH_HUMAN

UniProt

Q8NE62 - CHDH_HUMAN

Protein

Choline dehydrogenase, mitochondrial

Gene

CHDH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Choline + acceptor = betaine aldehyde + reduced acceptor.

    Cofactori

    FAD.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei511 – 5111By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi42 – 7130FADBy similarityAdd
    BLAST

    GO - Molecular functioni

    1. choline dehydrogenase activity Source: UniProtKB-EC
    2. flavin adenine dinucleotide binding Source: InterPro

    GO - Biological processi

    1. glycine betaine biosynthetic process from choline Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00375-MONOMER.
    UniPathwayiUPA00529; UER00385.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Choline dehydrogenase, mitochondrial (EC:1.1.99.1)
    Short name:
    CDH
    Short name:
    CHD
    Gene namesi
    Name:CHDH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:24288. CHDH.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134873121.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2929MitochondrionBy similarityAdd
    BLAST
    Chaini30 – 594565Choline dehydrogenase, mitochondrialPRO_0000012329Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei436 – 4361N6-succinyllysineBy similarity
    Modified residuei484 – 4841N6-acetyllysine; alternateBy similarity
    Modified residuei484 – 4841N6-succinyllysine; alternateBy similarity
    Modified residuei496 – 4961N6-acetyllysine; alternateBy similarity
    Modified residuei496 – 4961N6-succinyllysine; alternateBy similarity
    Modified residuei580 – 5801N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8NE62.
    PaxDbiQ8NE62.
    PRIDEiQ8NE62.

    PTM databases

    PhosphoSiteiQ8NE62.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NE62.
    BgeeiQ8NE62.
    CleanExiHS_CHDH.
    GenevestigatoriQ8NE62.

    Organism-specific databases

    HPAiHPA036633.

    Interactioni

    Protein-protein interaction databases

    BioGridi120629. 3 interactions.
    IntActiQ8NE62. 2 interactions.
    STRINGi9606.ENSP00000319851.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NE62.
    SMRiQ8NE62. Positions 42-568.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the GMC oxidoreductase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG2303.
    HOGENOMiHOG000139600.
    HOVERGENiHBG023639.
    InParanoidiQ8NE62.
    KOiK00108.
    OMAiMWCLLRG.
    OrthoDBiEOG7DFXBR.
    PhylomeDBiQ8NE62.
    TreeFamiTF313911.

    Family and domain databases

    InterProiIPR012132. GMC_OxRdtase.
    IPR000172. GMC_OxRdtase_N.
    IPR007867. GMC_OxRtase_C.
    [Graphical view]
    PfamiPF05199. GMC_oxred_C. 1 hit.
    PF00732. GMC_oxred_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000137. Alcohol_oxidase. 1 hit.
    PROSITEiPS00623. GMC_OXRED_1. 1 hit.
    PS00624. GMC_OXRED_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q8NE62-1 [UniParc]FASTAAdd to Basket

    « Hide

    MWCLLRGLGR PGALARGALG QQQSLGARAL ASAGSESRDE YSYVVVGAGS    50
    AGCVLAGRLT EDPAERVLLL EAGPKDVLAG SKRLSWKIHM PAALVANLCD 100
    DRYNWCYHTE VQRGLDGRVL YWPRGRVWGG SSSLNAMVYV RGHAEDYERW 150
    QRQGARGWDY AHCLPYFRKA QGHELGASRY RGADGPLRVS RGKTNHPLHC 200
    AFLEATQQAG YPLTEDMNGF QQEGFGWMDM TIHEGKRWSA ACAYLHPALS 250
    RTNLKAEAET LVSRVLFEGT RAVGVEYVKN GQSHRAYASK EVILSGGAIN 300
    SPQLLMLSGI GNADDLKKLG IPVVCHLPGV GQNLQDHLEI YIQQACTRPI 350
    TLHSAQKPLR KVCIGLEWLW KFTGEGATAH LETGGFIRSQ PGVPHPDIQF 400
    HFLPSQVIDH GRVPTQQEAY QVHVGPMRGT SVGWLKLRSA NPQDHPVIQP 450
    NYLSTETDIE DFRLCVKLTR EIFAQEALAP FRGKELQPGS HIQSDKEIDA 500
    FVRAKADSAY HPSCTCKMGQ PSDPTAVVDP QTRVLGVENL RVVDASIMPS 550
    MVSGNLNAPT IMIAEKAADI IKGQPALWDK DVPVYKPRTL ATQR 594
    Length:594
    Mass (Da):65,358
    Last modified:May 5, 2009 - v2
    Checksum:iE9764CD0F325A501
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti113 – 1131R → A in CAB75961. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401E → A.
    Corresponds to variant rs9001 [ dbSNP | Ensembl ].
    VAR_020421
    Natural varianti78 – 781L → R.1 Publication
    Corresponds to variant rs12676 [ dbSNP | Ensembl ].
    VAR_055097
    Natural varianti441 – 4411N → S.
    Corresponds to variant rs34974961 [ dbSNP | Ensembl ].
    VAR_049357

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC012467 Genomic DNA. No translation available.
    BC034502 mRNA. Translation: AAH34502.1.
    AJ272267 mRNA. Translation: CAB75961.1.
    CCDSiCCDS2873.1.
    RefSeqiNP_060867.2. NM_018397.4.
    UniGeneiHs.126688.
    Hs.729536.

    Genome annotation databases

    EnsembliENST00000315251; ENSP00000319851; ENSG00000016391.
    GeneIDi55349.
    KEGGihsa:55349.
    UCSCiuc003dgz.3. human.

    Polymorphism databases

    DMDMi229462828.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC012467 Genomic DNA. No translation available.
    BC034502 mRNA. Translation: AAH34502.1 .
    AJ272267 mRNA. Translation: CAB75961.1 .
    CCDSi CCDS2873.1.
    RefSeqi NP_060867.2. NM_018397.4.
    UniGenei Hs.126688.
    Hs.729536.

    3D structure databases

    ProteinModelPortali Q8NE62.
    SMRi Q8NE62. Positions 42-568.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120629. 3 interactions.
    IntActi Q8NE62. 2 interactions.
    STRINGi 9606.ENSP00000319851.

    Chemistry

    DrugBanki DB00122. Choline.

    PTM databases

    PhosphoSitei Q8NE62.

    Polymorphism databases

    DMDMi 229462828.

    Proteomic databases

    MaxQBi Q8NE62.
    PaxDbi Q8NE62.
    PRIDEi Q8NE62.

    Protocols and materials databases

    DNASUi 55349.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000315251 ; ENSP00000319851 ; ENSG00000016391 .
    GeneIDi 55349.
    KEGGi hsa:55349.
    UCSCi uc003dgz.3. human.

    Organism-specific databases

    CTDi 55349.
    GeneCardsi GC03M053850.
    HGNCi HGNC:24288. CHDH.
    HPAi HPA036633.
    neXtProti NX_Q8NE62.
    PharmGKBi PA134873121.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2303.
    HOGENOMi HOG000139600.
    HOVERGENi HBG023639.
    InParanoidi Q8NE62.
    KOi K00108.
    OMAi MWCLLRG.
    OrthoDBi EOG7DFXBR.
    PhylomeDBi Q8NE62.
    TreeFami TF313911.

    Enzyme and pathway databases

    UniPathwayi UPA00529 ; UER00385 .
    BioCyci MetaCyc:HS00375-MONOMER.

    Miscellaneous databases

    ChiTaRSi CHDH. human.
    GenomeRNAii 55349.
    NextBioi 59691.
    PROi Q8NE62.

    Gene expression databases

    ArrayExpressi Q8NE62.
    Bgeei Q8NE62.
    CleanExi HS_CHDH.
    Genevestigatori Q8NE62.

    Family and domain databases

    InterProi IPR012132. GMC_OxRdtase.
    IPR000172. GMC_OxRdtase_N.
    IPR007867. GMC_OxRtase_C.
    [Graphical view ]
    Pfami PF05199. GMC_oxred_C. 1 hit.
    PF00732. GMC_oxred_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000137. Alcohol_oxidase. 1 hit.
    PROSITEi PS00623. GMC_OXRED_1. 1 hit.
    PS00624. GMC_OXRED_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [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], VARIANT ARG-78.
      Tissue: Testis.
    3. "Analysis of a putative tumor suppressor gene region of 100 kb at chromosome 3p21.1 in conventional renal cell carcinoma."
      Bugert P., Hanke S., Chudek J., Kovacs G.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 113-594.
      Tissue: Kidney.

    Entry informationi

    Entry nameiCHDH_HUMAN
    AccessioniPrimary (citable) accession number: Q8NE62
    Secondary accession number(s): Q9NY17
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: May 5, 2009
    Last modified: October 1, 2014
    This is version 106 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 3
      Human chromosome 3: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3