Q8NE62 (CHDH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Gene names

Name:

CHDH

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 inner membrane By similarity.
Sequence similarities	Belongs to the GMC oxidoreductase family.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	FAD Flavoprotein
Molecular function	Oxidoreductase
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycine betaine biosynthetic process from choline Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	choline dehydrogenase activity Inferred from electronic annotation. Source: EC flavin adenine dinucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 29	29	Mitochondrion By similarity
	Chain	30 – 594	565	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. Corresponds to variant rs9001 [ dbSNP | Ensembl ].		VAR_020421
	Natural variant	78	1	L → R. Ref.2 Corresponds to variant rs12676 [ dbSNP | Ensembl ].		VAR_055097
	Natural variant	441	1	N → S. Corresponds to variant rs34974961 [ dbSNP | Ensembl ].		VAR_049357
Experimental info
	Sequence conflict	113	1	R → A in CAB75961. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8NE62 [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] [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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC012467 Genomic DNA. No translation available. BC034502 mRNA. Translation: AAH34502.1. AJ272267 mRNA. Translation: CAB75961.1.
IPI	IPI00168603.
RefSeq	NP_060867.2. NM_018397.4.
UniGene	Hs.126688. Hs.729536.
3D structure databases
ProteinModelPortal	Q8NE62.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000319851.
PTM databases
PhosphoSite	Q8NE62.
Polymorphism databases
DMDM	229462828.
Proteomic databases
PaxDb	Q8NE62.
PRIDE	Q8NE62.
Protocols and materials databases
DNASU	55349.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000315251; ENSP00000319851; ENSG00000016391.
GeneID	55349.
KEGG	hsa:55349.
UCSC	uc003dgz.3. human.
Organism-specific databases
CTD	55349.
GeneCards	GC03M053826.
HGNC	HGNC:24288. CHDH.
HPA	HPA036633.
neXtProt	NX_Q8NE62.
PharmGKB	PA134873121.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2303.
HOGENOM	HOG000139600.
HOVERGEN	HBG023639.
InParanoid	Q8NE62.
KO	K00108.
OMA	SRDEYSY.
OrthoDB	EOG4PK27G.
PhylomeDB	Q8NE62.
Enzyme and pathway databases
UniPathway	UPA00529; UER00385.
Gene expression databases
ArrayExpress	Q8NE62.
Bgee	Q8NE62.
CleanEx	HS_CHDH.
Genevestigator	Q8NE62.
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
ChiTaRS	CHDH. human.
DrugBank	DB00122. Choline.
GenomeRNAi	55349.
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:	May 1, 2013
This is version 94 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.