Reviewed, UniProtKB/Swiss-Prot Q9H2M3 (BHMT2_HUMAN)

Names and origin

Protein names

Recommended name:
    Betaine--homocysteine S-methyltransferase 2
    EC=2.1.1.5

Gene names

Name:

BHMT2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	363 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline By similarity.
Catalytic activity	Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Pathway	Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2. Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1.
Subunit structure	Homotetramer By similarity. May interact with PRNP.
Tissue specificity	Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle. Ref.1
Sequence similarities	Contains 1 Hcy-binding domain.

Ontologies

Keywords
Ligand	Metal-binding Zinc
Molecular function	Methyltransferase Transferase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	methionine biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasm Inferred from electronic annotation. Source: InterPro
Molecular function	betaine-homocysteine S-methyltransferase activity Inferred from electronic annotation. Source: EC homocysteine S-methyltransferase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 363	363	Betaine--homocysteine S-methyltransferase 2		PRO_0000273224
Regions
	Domain	11 – 305	295	Hcy-binding
Sites
	Metal binding	208	1	Zinc By similarity
	Metal binding	290	1	Zinc By similarity
	Metal binding	291	1	Zinc By similarity

Sequences

	Sequence		Length	Mass (Da)
	Q9H2M3-1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 92D35414D2D56003	FASTA	363	40,354
	10 20 30 40 50 60 MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI EHPDAVRQLH 70 80 90 100 110 120 MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE VAGKGDALVA GGICQTSIYK 130 140 150 160 170 180 YQKDEARIKK LFRQQLEVFA WKNVDFLIAE YFEHVEEAVW AVEVLKESDR PVAVTMCIGP 190 200 210 220 230 240 EGDMHDITPG ECAVRLVKAG ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL 250 260 270 280 290 300 GFHAPDCGKE GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA 310 320 330 340 350 360 IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK PDF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes." Chadwick L.H., McCandless S.E., Silverman G.L., Schwartz S., Westaway D., Nadeau J.H. Genomics 70:66-73(2000) [PubMed: 11087663] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, POSSIBLE INTERACTION WITH PRNP.
[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]. Tissue: Liver.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-363. Tissue: Adipose tissue.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF257473 mRNA. Translation: AAG41356.1. BC020665 mRNA. Translation: AAH20665.1. AK000008 mRNA. Translation: BAA90880.1. Different initiation.
IPI	IPI00014363.
RefSeq	NP_060084.2.
UniGene	Hs.114172
3D structure databases
HSSP	HSSP built from PDB template 1LT7 based on UniProtKB Q93088.
SMR	Q9H2M3. Positions 10-362.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H2M3.
PTM databases
PhosphoSite	Q9H2M3.
Proteomic databases
PRIDE	Q9H2M3.
Genome annotation databases
Ensembl	ENST00000255192; ENSP00000255192; ENSG00000132840; Homo sapiens. [Genome view]
GeneID	23743.
KEGG	hsa:23743.
NMPDR	fig|9606.3.peg.25449.
UCSC	uc003kft.1. human.
Organism-specific databases
CTD	23743.
GeneCards	GC05P078401.
HGNC	HGNC:1048. BHMT2.
MIM	605932. gene.
PharmGKB	PA25351.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9H2M3.
OMA	KGGFVDL.
Enzyme and pathway databases
BRENDA	2.1.1.5. 247.
Gene expression databases
ArrayExpress	Q9H2M3.
Bgee	Q9H2M3.
CleanEx	HS_BHMT2.
Genevestigator	Q9H2M3.
Family and domain databases
InterPro	IPR017226. Betaine-hCys_S-MeTrfase_BHMT. IPR003726. S_MeTrfase. [Graphical view]
Gene3D	G3DSA:3.20.20.330. S_methyl_trans. 1 hit.
Pfam	PF02574. S-methyl_trans. 1 hit. [Graphical view]
PIRSF	PIRSF037505. Betaine_HMT. 1 hit.
PROSITE	PS50970. HCY. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00134. L-Methionine.
NextBio	46663.
SOURCE	Search...

Entry information

Entry name

BHMT2_HUMAN

Accession

Primary (citable) accession number: Q9H2M3
Secondary accession number(s): Q9NXX7

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	March 1, 2001
Last modified:	November 3, 2009
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.