Q9Y5N5 (HEMK2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HemK methyltransferase family member 2
EC=2.1.1.-

Alternative name(s):
M.HsaHemK2P
N(6)-adenine-specific DNA methyltransferase 1

Gene names

Name:	N6AMT1
Synonyms:	C21orf127, HEMK2
ORF Names:	PRED28

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	214 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Heterodimeric methyltransferase that catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor. ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated. Ref.5
Subunit structure	Heterodimer with TRMT112.
Sequence similarities	Belongs to the eukaryotic/archaeal PrmC-related family.
Caution	Was originally (Ref.1) proposed to be a DNA methyltransferase, but was then shown (Ref.5) to be a protein methyltransferase.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	S-adenosyl-L-methionine
Molecular function	Methyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	positive regulation of cell growth Inferred from direct assay Ref.5. Source: MGI
Cellular component	protein complex Inferred from direct assay Ref.5. Source: MGI
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction Ref.5. Source: UniProtKB protein methyltransferase activity Inferred from direct assay Ref.5. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y5N5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9Y5N5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     105-132: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 214	214	HemK methyltransferase family member 2		PRO_0000088049
Regions
	Region	53 – 57	5	S-adenosyl-L-methionine binding By similarity
	Region	122 – 125	4	Substrate binding By similarity
Sites
	Binding site	77	1	S-adenosyl-L-methionine By similarity
	Binding site	122	1	S-adenosyl-L-methionine By similarity
Natural variations
	Alternative sequence	105 – 132	28	Missing in isoform 2.		VSP_040294
	Natural variant	34	1	N → D. Ref.1 Ref.2 Ref.3 Ref.4 Corresponds to variant rs1997607 [ dbSNP | Ensembl ].		VAR_060445
	Natural variant	146	1	K → R. Ref.1 Ref.3 Ref.4 Corresponds to variant rs2205447 [ dbSNP | Ensembl ].		VAR_060446
	Natural variant	166	1	K → R. Ref.1 Ref.3 Ref.4 Corresponds to variant rs2205446 [ dbSNP | Ensembl ].		VAR_060447

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 30, 2010. Version 3. Checksum: 401B9A533C19F7C6	FASTA	214	22,900
	10 20 30 40 50 60 MAGENFATPF HGHVGRGAFS DVYEPAEDTF LLLNALEAAA AELAGVEICL EVGSGSGVVS 70 80 90 100 110 120 AFLASMIGPQ ALYMCTDINP EAAACTLETA RCNKVHIQPV ITDLVKGLLP RLTEKVDLLV 130 140 150 160 170 180 FNPPYVVTPP QEVGSHGIEA AWAGGKNGRE VMDRFFPLVP DLLSPKGLFY LVTIKENNPE 190 200 210 EILKIMKTKG LQGTTALSRQ AGQETLSVLK FTKS
	Isoform 2 [UniParc]. Checksum: EA51EA6D1B0BC85B	FASTA	186	19,756
	10 20 30 40 50 60 MAGENFATPF HGHVGRGAFS DVYEPAEDTF LLLNALEAAA AELAGVEICL EVGSGSGVVS 70 80 90 100 110 120 AFLASMIGPQ ALYMCTDINP EAAACTLETA RCNKVHIQPV ITDLVGSHGI EAAWAGGKNG 130 140 150 160 170 180 REVMDRFFPL VPDLLSPKGL FYLVTIKENN PEEILKIMKT KGLQGTTALS RQAGQETLSV LKFTKS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel putative eukaryotic DNA-methyltransferase." Reboul J., Misseri Y., Bonnerot C., Mogensen E., Lutfalla G. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASP-34; ARG-146 AND ARG-166.
[2]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-34.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ASP-34; ARG-146 AND ARG-166.
[4]	"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] (ISOFORM 2), VARIANTS ASP-34; ARG-146 AND ARG-166. Tissue: Skin.
[5]	"HemK2 protein, encoded on human chromosome 21, methylates translation termination factor eRF1." Figaro S., Scrima N., Buckingham R.H., Heurgue-Hamard V. FEBS Lett. 582:2352-2356(2008) [PubMed: 18539146] [Abstract] Cited for: FUNCTION, INTERACTION WITH TRMT112.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF139682 mRNA. Translation: AAD38520.1. AF227510 Genomic DNA. No translation available. AL163248 Genomic DNA. Translation: CAB90428.1. CH471079 Genomic DNA. Translation: EAX09941.1. BC011554 mRNA. Translation: AAH11554.1.
IPI	IPI00001640. IPI00101308.
RefSeq	NP_037372.2. NM_013240.3. NP_877426.2. NM_182749.2.
UniGene	Hs.163846.
3D structure databases
ProteinModelPortal	Q9Y5N5.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-3087317.
STRING	Q9Y5N5.
Polymorphism databases
DMDM	9988059.
Proteomic databases
PRIDE	Q9Y5N5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303775; ENSP00000303584; ENSG00000156239. ENST00000351429; ENSP00000286764; ENSG00000156239.
GeneID	29104.
KEGG	hsa:29104.
UCSC	uc002ymo.1. human.
Organism-specific databases
CTD	29104.
GeneCards	GC21M030244.
HGNC	HGNC:16021. N6AMT1.
neXtProt	NX_Q9Y5N5.
PharmGKB	PA134952521.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000013073.
HOGENOM	HBG646581.
HOVERGEN	HBG052569.
InParanoid	Q9Y5N5.
OMA	GIEASWA.
OrthoDB	EOG4DR9DC.
PhylomeDB	Q9Y5N5.
Gene expression databases
ArrayExpress	Q9Y5N5.
Bgee	Q9Y5N5.
CleanEx	HS_N6AMT1.
Genevestigator	Q9Y5N5.
GermOnline	ENSG00000156239. Homo sapiens.
Family and domain databases
InterPro	IPR002052. DNA_methylase_N6_adenine_CS. IPR004557. HemK-rel_arch. IPR007848. Small_mtfrase. [Graphical view]
KO	K00571.
Pfam	PF05175. MTS. 1 hit. [Graphical view]
TIGRFAMs	TIGR00537. HemK_rel_arch. 1 hit.
PROSITE	PS00092. N6_MTASE. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

HEMK2_HUMAN

Accession

Primary (citable) accession number: Q9Y5N5
Secondary accession number(s): Q96F73

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 30, 2010
Last modified:	January 25, 2012
This is version 90 of the entry and version 3 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.