Reviewed, UniProtKB/Swiss-Prot Q8NE62 (CHDH_HUMAN)

Names and origin

Protein names

Recommended name:
    Choline dehydrogenase, mitochondrial
      Short name=CHD
      Short name=CDH
    EC=1.1.99.1

Gene names

Name:

CHDH

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	594 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	Choline + acceptor = betaine aldehyde + reduced acceptor.
Cofactor	FAD By similarity.
Pathway	Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine aldehyde from choline (cytochrome c reductase route): step 1/1.
Subcellular location	Mitochondrion Potential.
Sequence similarities	Belongs to the GMC oxidoreductase family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	FAD Flavoprotein
Molecular function	Oxidoreductase
PTM	Acetylation
Gene Ontology (GO)
Biological process	cellular alcohol metabolic process Inferred from electronic annotation. Source: InterPro oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	FAD binding Inferred from electronic annotation. Source: InterPro choline dehydrogenase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – ?		Mitochondrion Potential
	Chain	? – 594		Choline dehydrogenase, mitochondrial		PRO_0000012329
Regions
	Nucleotide binding	42 – 71	30	FAD By similarity
Sites
	Active site	511	1	By similarity
Amino acid modifications
	Modified residue	496	1	N6-acetyllysine By similarity
Natural variations
	Natural variant	40	1	E → A: dbSNP rs9001.		VAR_020421
	Natural variant	78	1	L → R: dbSNP rs12676. Ref.2		VAR_055097
	Natural variant	441	1	N → S: dbSNP rs34974961.		VAR_049357
Experimental info
	Sequence conflict	113	1	R → A in CAB75961. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8NE62-1 [UniParc]. Last modified May 5, 2009. Version 2. Checksum: E9764CD0F325A501	FASTA	594	65,358
	10 20 30 40 50 60 MWCLLRGLGR PGALARGALG QQQSLGARAL ASAGSESRDE YSYVVVGAGS AGCVLAGRLT 70 80 90 100 110 120 EDPAERVLLL EAGPKDVLAG SKRLSWKIHM PAALVANLCD DRYNWCYHTE VQRGLDGRVL 130 140 150 160 170 180 YWPRGRVWGG SSSLNAMVYV RGHAEDYERW QRQGARGWDY AHCLPYFRKA QGHELGASRY 190 200 210 220 230 240 RGADGPLRVS RGKTNHPLHC AFLEATQQAG YPLTEDMNGF QQEGFGWMDM TIHEGKRWSA 250 260 270 280 290 300 ACAYLHPALS RTNLKAEAET LVSRVLFEGT RAVGVEYVKN GQSHRAYASK EVILSGGAIN 310 320 330 340 350 360 SPQLLMLSGI GNADDLKKLG IPVVCHLPGV GQNLQDHLEI YIQQACTRPI TLHSAQKPLR 370 380 390 400 410 420 KVCIGLEWLW KFTGEGATAH LETGGFIRSQ PGVPHPDIQF HFLPSQVIDH GRVPTQQEAY 430 440 450 460 470 480 QVHVGPMRGT SVGWLKLRSA NPQDHPVIQP NYLSTETDIE DFRLCVKLTR EIFAQEALAP 490 500 510 520 530 540 FRGKELQPGS HIQSDKEIDA FVRAKADSAY HPSCTCKMGQ PSDPTAVVDP QTRVLGVENL 550 560 570 580 590 RVVDASIMPS MVSGNLNAPT IMIAEKAADI IKGQPALWDK DVPVYKPRTL ATQR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 16641997] [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: 15489334] [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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC012467 Genomic DNA. No translation available. BC034502 mRNA. Translation: AAH34502.1. AJ272267 mRNA. Translation: CAB75961.1.
IPI	IPI00168603.
RefSeq	NP_060867.2.
UniGene	Hs.126688
3D structure databases
HSSP	HSSP built from PDB template 1JU2 based on UniProtKB Q945K2.
ModBase	Search...
PTM databases
PhosphoSite	Q8NE62.
Genome annotation databases
Ensembl	ENSG00000016391. Homo sapiens. [Contig view]
GeneID	55349.
KEGG	hsa:55349.
Organism-specific databases
GeneCards	GC03M053826.
HGNC	HGNC:24288. CHDH.
PharmGKB	PA134873121.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8NE62.
HOVERGEN	Q8NE62.
Enzyme and pathway databases
BRENDA	1.1.99.1. 247.
Gene expression databases
ArrayExpress	Q8NE62.
Bgee	Q8NE62.
CleanEx	HS_CHDH.
GermOnline	ENSG00000016391. Homo sapiens.
Family and domain databases
InterPro	IPR012132. GMC_OxRdtase. IPR000172. GMC_OxRdtase_N. IPR007867. GMC_OxRtase_C. [Graphical view]
Pfam	PF05199. GMC_oxred_C. 1 hit. PF00732. GMC_oxred_N. 1 hit. [Graphical view]
PIRSF	PIRSF000137. Alcohol_oxidase. 1 hit.
PROSITE	PS00623. GMC_OXRED_1. 1 hit. PS00624. GMC_OXRED_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00122. Choline.
NextBio	59691.

Entry information

Entry name

CHDH_HUMAN

Accession

Primary (citable) accession number: Q8NE62
Secondary accession number(s): Q9NY17

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 16, 2004
Last sequence update:	May 5, 2009
Last modified:	June 16, 2009
This is version 60 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)