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Q8NE62

- CHDH_HUMAN

UniProt

Q8NE62 - CHDH_HUMAN

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Protein

Choline dehydrogenase, mitochondrial

Gene

CHDH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiQ8NE62.
CleanExiHS_CHDH.
ExpressionAtlasiQ8NE62. baseline and differential.
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 44-568.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GMC oxidoreductase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG2303.
GeneTreeiENSGT00530000063260.
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

        10         20         30         40         50
MWCLLRGLGR PGALARGALG QQQSLGARAL ASAGSESRDE YSYVVVGAGS
60 70 80 90 100
AGCVLAGRLT EDPAERVLLL EAGPKDVLAG SKRLSWKIHM PAALVANLCD
110 120 130 140 150
DRYNWCYHTE VQRGLDGRVL YWPRGRVWGG SSSLNAMVYV RGHAEDYERW
160 170 180 190 200
QRQGARGWDY AHCLPYFRKA QGHELGASRY RGADGPLRVS RGKTNHPLHC
210 220 230 240 250
AFLEATQQAG YPLTEDMNGF QQEGFGWMDM TIHEGKRWSA ACAYLHPALS
260 270 280 290 300
RTNLKAEAET LVSRVLFEGT RAVGVEYVKN GQSHRAYASK EVILSGGAIN
310 320 330 340 350
SPQLLMLSGI GNADDLKKLG IPVVCHLPGV GQNLQDHLEI YIQQACTRPI
360 370 380 390 400
TLHSAQKPLR KVCIGLEWLW KFTGEGATAH LETGGFIRSQ PGVPHPDIQF
410 420 430 440 450
HFLPSQVIDH GRVPTQQEAY QVHVGPMRGT SVGWLKLRSA NPQDHPVIQP
460 470 480 490 500
NYLSTETDIE DFRLCVKLTR EIFAQEALAP FRGKELQPGS HIQSDKEIDA
510 520 530 540 550
FVRAKADSAY HPSCTCKMGQ PSDPTAVVDP QTRVLGVENL RVVDASIMPS
560 570 580 590
MVSGNLNAPT IMIAEKAADI IKGQPALWDK DVPVYKPRTL ATQR
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 44-568.
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.
GeneTreei ENSGT00530000063260.
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

Bgeei Q8NE62.
CleanExi HS_CHDH.
ExpressionAtlasi Q8NE62. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 107 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