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Protein

Choline dehydrogenase, mitochondrial

Gene

CHDH

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

Functioni

Catalytic activityi

Choline + acceptor = betaine aldehyde + reduced acceptor.

Cofactori

FADBy similarity

Pathway: 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei511 – 5111By similarity

Regions

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS00375-MONOMER.
BRENDAi1.1.99.1. 2681.
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 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:24288. CHDH.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134873121.

Chemistry

DrugBankiDB00122. Choline.

Polymorphism and mutation databases

BioMutaiCHDH.
DMDMi229462828.

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.
GenevisibleiQ8NE62. HS.

Organism-specific databases

HPAiHPA036633.
HPA058130.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi120629. 6 interactions.
IntActiQ8NE62. 3 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 (Ref. 3) Curated

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:
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.
UniGeneiHs.126688.
Hs.729536.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
UniGeneiHs.126688.
Hs.729536.

3D structure databases

ProteinModelPortaliQ8NE62.
SMRiQ8NE62. Positions 44-568.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120629. 6 interactions.
IntActiQ8NE62. 3 interactions.
STRINGi9606.ENSP00000319851.

Chemistry

DrugBankiDB00122. Choline.

PTM databases

PhosphoSiteiQ8NE62.

Polymorphism and mutation databases

BioMutaiCHDH.
DMDMi229462828.

Proteomic databases

MaxQBiQ8NE62.
PaxDbiQ8NE62.
PRIDEiQ8NE62.

Protocols and materials databases

DNASUi55349.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55349.
GeneCardsiGC03M053850.
HGNCiHGNC:24288. CHDH.
HPAiHPA036633.
HPA058130.
neXtProtiNX_Q8NE62.
PharmGKBiPA134873121.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2303.
GeneTreeiENSGT00530000063260.
HOGENOMiHOG000139600.
HOVERGENiHBG023639.
InParanoidiQ8NE62.
KOiK00108.
OMAiMWCLLRG.
OrthoDBiEOG7DFXBR.
PhylomeDBiQ8NE62.
TreeFamiTF313911.

Enzyme and pathway databases

UniPathwayiUPA00529; UER00385.
BioCyciMetaCyc:HS00375-MONOMER.
BRENDAi1.1.99.1. 2681.

Miscellaneous databases

ChiTaRSiCHDH. human.
GenomeRNAii55349.
NextBioi59691.
PROiQ8NE62.

Gene expression databases

BgeeiQ8NE62.
CleanExiHS_CHDH.
ExpressionAtlasiQ8NE62. baseline and differential.
GenevisibleiQ8NE62. HS.

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]
ProtoNetiSearch...

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.
  4. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

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: June 24, 2015
This is version 115 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.