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Protein

Choline dehydrogenase, mitochondrial

Gene

CHDH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Choline + acceptor = betaine aldehyde + reduced acceptor.

Cofactori

FADBy similarity

Pathwayi: betaine biosynthesis via choline pathway

This protein is involved in step 1 of the subpathway that synthesizes betaine aldehyde from choline (cytochrome c reductase route).
Proteins known to be involved in this subpathway in this organism are:
  1. Choline dehydrogenase, mitochondrial (CHDH)
This subpathway is part of the pathway betaine biosynthesis via choline pathway, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes betaine aldehyde from choline (cytochrome c reductase route), the pathway betaine biosynthesis via choline pathway and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei511Proton acceptorBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi42 – 71FADBy similarityAdd BLAST30

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS00375-MONOMER.
BRENDAi1.1.99.1. 2681.
ReactomeiR-HSA-6798163. Choline catabolism.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000016391.10.
HGNCiHGNC:24288. CHDH.

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

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55349.
OpenTargetsiENSG00000016391.
PharmGKBiPA134873121.

Chemistry databases

DrugBankiDB00122. Choline.

Polymorphism and mutation databases

BioMutaiCHDH.
DMDMi229462828.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 29MitochondrionBy similarityAdd BLAST29
ChainiPRO_000001232930 – 594Choline dehydrogenase, mitochondrialAdd BLAST565

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei436N6-succinyllysineBy similarity1
Modified residuei484N6-acetyllysine; alternateBy similarity1
Modified residuei484N6-succinyllysine; alternateBy similarity1
Modified residuei496N6-acetyllysine; alternateBy similarity1
Modified residuei496N6-succinyllysine; alternateBy similarity1
Modified residuei580N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8NE62.
MaxQBiQ8NE62.
PaxDbiQ8NE62.
PeptideAtlasiQ8NE62.
PRIDEiQ8NE62.

PTM databases

iPTMnetiQ8NE62.
PhosphoSitePlusiQ8NE62.

Expressioni

Gene expression databases

BgeeiENSG00000016391.
CleanExiHS_CHDH.
ExpressionAtlasiQ8NE62. baseline and differential.
GenevisibleiQ8NE62. HS.

Organism-specific databases

HPAiHPA036633.
HPA058130.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NOTCH2NLQ7Z3S93EBI-7127986,EBI-945833

Protein-protein interaction databases

BioGridi120629. 13 interactors.
CORUMiQ8NE62.
IntActiQ8NE62. 3 interactors.
STRINGi9606.ENSP00000319851.

Structurei

3D structure databases

ProteinModelPortaliQ8NE62.
SMRiQ8NE62.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GMC oxidoreductase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1238. Eukaryota.
COG2303. LUCA.
GeneTreeiENSGT00530000063260.
HOGENOMiHOG000139600.
HOVERGENiHBG023639.
InParanoidiQ8NE62.
KOiK00108.
OMAiGWDYAHC.
OrthoDBiEOG091G02M7.
PhylomeDBiQ8NE62.
TreeFamiTF313911.

Family and domain databases

InterProiView protein in InterPro
IPR023753. FAD/NAD-binding_dom.
IPR012132. GMC_OxRdtase.
IPR000172. GMC_OxRdtase_N.
IPR007867. GMC_OxRtase_C.
PfamiView protein in Pfam
PF05199. GMC_oxred_C. 1 hit.
PF00732. GMC_oxred_N. 1 hit.
PIRSFiPIRSF000137. Alcohol_oxidase. 1 hit.
SUPFAMiSSF51905. SSF51905. 2 hits.
PROSITEiView protein in PROSITE
PS00623. GMC_OXRED_1. 1 hit.
PS00624. GMC_OXRED_2. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti113R → A in CAB75961 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02042140E → A. Corresponds to variant dbSNP:rs9001Ensembl.1
Natural variantiVAR_05509778L → R1 PublicationCorresponds to variant dbSNP:rs12676Ensembl.1
Natural variantiVAR_049357441N → S. Corresponds to variant dbSNP:rs34974961Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
XP_016862286.1. XM_017006797.1.
XP_016862287.1. XM_017006798.1.
UniGeneiHs.126688.
Hs.729536.

Genome annotation databases

EnsembliENST00000315251; ENSP00000319851; ENSG00000016391.
GeneIDi55349.
KEGGihsa:55349.
UCSCiuc003dgz.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCHDH_HUMAN
AccessioniPrimary (citable) accession number: Q8NE62
Secondary accession number(s): Q9NY17
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 16, 2004
Last sequence update: May 5, 2009
Last modified: September 27, 2017
This is version 133 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 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