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Protein

HemK methyltransferase family member 2

Gene

N6AMT1

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

Functioni

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. May play a role in the modulation of arsenic-induced toxicity. May be involved in the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei77 – 771S-adenosyl-L-methionineBy similarity
Binding sitei122 – 1221S-adenosyl-L-methionineBy similarity

GO - Molecular functioni

  • nucleic acid binding Source: InterPro
  • protein methyltransferase activity Source: MGI

GO - Biological processi

  • methylation Source: Reactome
  • positive regulation of cell growth Source: MGI
  • protein methylation Source: GOC
  • translational termination Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-adenosyl-L-methionine

Enzyme and pathway databases

BRENDAi2.1.1.72. 2681.
ReactomeiR-HSA-156581. Methylation.
R-HSA-72764. Eukaryotic Translation Termination.

Names & Taxonomyi

Protein namesi
Recommended name:
HemK methyltransferase family member 2 (EC:2.1.1.-)
Alternative name(s):
M.HsaHemK2P
N(6)-adenine-specific DNA methyltransferase 1
Gene namesi
Name:N6AMT1
Synonyms:C21orf127, HEMK2
ORF Names:PRED28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:16021. N6AMT1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • protein complex Source: MGI
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162396656.

Polymorphism and mutation databases

BioMutaiN6AMT1.
DMDMi313104228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 214214HemK methyltransferase family member 2PRO_0000088049Add
BLAST

Proteomic databases

EPDiQ9Y5N5.
MaxQBiQ9Y5N5.
PaxDbiQ9Y5N5.
PRIDEiQ9Y5N5.

Expressioni

Tissue specificityi

Widely expressed, with highest expression in parathyroid and pituitary glands, followed by adrenal gland and kidney, and lowest expression in leukocytes and mammary gland.1 Publication

Gene expression databases

BgeeiQ9Y5N5.
CleanExiHS_N6AMT1.
ExpressionAtlasiQ9Y5N5. baseline and differential.
GenevisibleiQ9Y5N5. HS.

Organism-specific databases

HPAiCAB034133.
CAB034135.
HPA059242.

Interactioni

Subunit structurei

Heterodimer with TRMT112.

Protein-protein interaction databases

BioGridi118872. 6 interactions.
IntActiQ9Y5N5. 5 interactions.
MINTiMINT-3087317.
STRINGi9606.ENSP00000303584.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5N5.
SMRiQ9Y5N5. Positions 21-214.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni53 – 575S-adenosyl-L-methionine bindingBy similarity
Regioni122 – 1254Substrate bindingBy similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3191. Eukaryota.
COG2890. LUCA.
HOGENOMiHOG000219949.
HOVERGENiHBG052569.
InParanoidiQ9Y5N5.
KOiK19589.
OrthoDBiEOG738066.
PhylomeDBiQ9Y5N5.
TreeFamiTF314919.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002052. DNA_methylase_N6_adenine_CS.
IPR004557. PrmC-related.
IPR029063. SAM-dependent_MTases.
IPR007848. Small_mtfrase_dom.
[Graphical view]
PfamiPF05175. MTS. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
TIGRFAMsiTIGR00537. hemK_rel_arch. 1 hit.
PROSITEiPS00092. N6_MTASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5N5-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAGENFATPF HGHVGRGAFS DVYEPAEDTF LLLNALEAAA AELAGVEICL
60 70 80 90 100
EVGSGSGVVS AFLASMIGPQ ALYMCTDINP EAAACTLETA RCNKVHIQPV
110 120 130 140 150
ITDLVKGLLP RLTEKVDLLV FNPPYVVTPP QEVGSHGIEA AWAGGKNGRE
160 170 180 190 200
VMDRFFPLVP DLLSPKGLFY LVTIKENNPE EILKIMKTKG LQGTTALSRQ
210
AGQETLSVLK FTKS
Length:214
Mass (Da):22,900
Last modified:November 30, 2010 - v3
Checksum:i401B9A533C19F7C6
GO
Isoform 2 (identifier: Q9Y5N5-2) [UniParc]FASTAAdd to basket

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

Show »
Length:186
Mass (Da):19,756
Checksum:iEA51EA6D1B0BC85B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341N → D.4 Publications
Corresponds to variant rs1997607 [ dbSNP | Ensembl ].
VAR_060445
Natural varianti146 – 1461K → R.3 Publications
Corresponds to variant rs2205447 [ dbSNP | Ensembl ].
VAR_060446
Natural varianti166 – 1661K → R.3 Publications
Corresponds to variant rs2205446 [ dbSNP | Ensembl ].
VAR_060447

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei105 – 13228Missing in isoform 2. 1 PublicationVSP_040294Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33525.1. [Q9Y5N5-2]
CCDS33526.1. [Q9Y5N5-1]
RefSeqiNP_037372.4. NM_013240.5.
NP_877426.4. NM_182749.4.
UniGeneiHs.163846.

Genome annotation databases

EnsembliENST00000351429; ENSP00000286764; ENSG00000156239.
GeneIDi29104.
KEGGihsa:29104.
UCSCiuc002ymp.3. human. [Q9Y5N5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33525.1. [Q9Y5N5-2]
CCDS33526.1. [Q9Y5N5-1]
RefSeqiNP_037372.4. NM_013240.5.
NP_877426.4. NM_182749.4.
UniGeneiHs.163846.

3D structure databases

ProteinModelPortaliQ9Y5N5.
SMRiQ9Y5N5. Positions 21-214.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118872. 6 interactions.
IntActiQ9Y5N5. 5 interactions.
MINTiMINT-3087317.
STRINGi9606.ENSP00000303584.

Polymorphism and mutation databases

BioMutaiN6AMT1.
DMDMi313104228.

Proteomic databases

EPDiQ9Y5N5.
MaxQBiQ9Y5N5.
PaxDbiQ9Y5N5.
PRIDEiQ9Y5N5.

Protocols and materials databases

DNASUi29104.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351429; ENSP00000286764; ENSG00000156239.
GeneIDi29104.
KEGGihsa:29104.
UCSCiuc002ymp.3. human. [Q9Y5N5-1]

Organism-specific databases

CTDi29104.
GeneCardsiN6AMT1.
H-InvDBHIX0020675.
HGNCiHGNC:16021. N6AMT1.
HPAiCAB034133.
CAB034135.
HPA059242.
MIMi614553. gene.
neXtProtiNX_Q9Y5N5.
PharmGKBiPA162396656.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3191. Eukaryota.
COG2890. LUCA.
HOGENOMiHOG000219949.
HOVERGENiHBG052569.
InParanoidiQ9Y5N5.
KOiK19589.
OrthoDBiEOG738066.
PhylomeDBiQ9Y5N5.
TreeFamiTF314919.

Enzyme and pathway databases

BRENDAi2.1.1.72. 2681.
ReactomeiR-HSA-156581. Methylation.
R-HSA-72764. Eukaryotic Translation Termination.

Miscellaneous databases

GenomeRNAii29104.
PROiQ9Y5N5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y5N5.
CleanExiHS_N6AMT1.
ExpressionAtlasiQ9Y5N5. baseline and differential.
GenevisibleiQ9Y5N5. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002052. DNA_methylase_N6_adenine_CS.
IPR004557. PrmC-related.
IPR029063. SAM-dependent_MTases.
IPR007848. Small_mtfrase_dom.
[Graphical view]
PfamiPF05175. MTS. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
TIGRFAMsiTIGR00537. hemK_rel_arch. 1 hit.
PROSITEiPS00092. N6_MTASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-34.
  3. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TRMT112.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Involvement of N-6 adenine-specific DNA methyltransferase 1 (N6AMT1) in arsenic biomethylation and its role in arsenic-induced toxicity."
    Ren X., Aleshin M., Jo W.J., Dills R., Kalman D.A., Vulpe C.D., Smith M.T., Zhang L.
    Environ. Health Perspect. 119:771-777(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiHEMK2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5N5
Secondary accession number(s): Q96F73
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 30, 2010
Last modified: June 8, 2016
This is version 131 of the entry and version 3 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

Caution

Was originally (Ref. 1) proposed to be a DNA methyltransferase, but was then shown to be a protein methyltransferase.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.