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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)DescriptionActionsGraphical viewLength
Binding sitei77S-adenosyl-L-methionineBy similarity1
Binding sitei122S-adenosyl-L-methionineBy similarity1

GO - Molecular functioni

GO - Biological processi

  • methylation Source: Reactome
  • positive regulation of cell growth Source: MGI
  • translational termination Source: Reactome

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-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

EuPathDBiHostDB:ENSG00000156239.11.
HGNCiHGNC:16021. N6AMT1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi29104.
OpenTargetsiENSG00000156239.
PharmGKBiPA162396656.

Polymorphism and mutation databases

BioMutaiN6AMT1.
DMDMi313104228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000880491 – 214HemK methyltransferase family member 2Add BLAST214

Proteomic databases

EPDiQ9Y5N5.
PaxDbiQ9Y5N5.
PeptideAtlasiQ9Y5N5.
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

BgeeiENSG00000156239.
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 interactors.
IntActiQ9Y5N5. 5 interactors.
MINTiMINT-3087317.
STRINGi9606.ENSP00000303584.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5N5.
SMRiQ9Y5N5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni53 – 57S-adenosyl-L-methionine bindingBy similarity5
Regioni122 – 125Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3191. Eukaryota.
COG2890. LUCA.
GeneTreeiENSGT00390000013073.
HOGENOMiHOG000219949.
HOVERGENiHBG052569.
InParanoidiQ9Y5N5.
KOiK19589.
OMAiEWDDWME.
OrthoDBiEOG091G0XHW.
PhylomeDBiQ9Y5N5.
TreeFamiTF314919.

Family and domain databases

InterProiView protein in InterPro
IPR002052. DNA_methylase_N6_adenine_CS.
IPR004557. PrmC-related.
IPR029063. SAM-dependent_MTases.
IPR007848. Small_mtfrase_dom.
PfamiView protein in Pfam
PF05175. MTS. 1 hit.
SUPFAMiSSF53335. SSF53335. 1 hit.
TIGRFAMsiTIGR00537. hemK_rel_arch. 1 hit.
PROSITEiView protein in PROSITE
PS00092. N6_MTASE. 1 hit.

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 LLLDALEAAA AELAGVEICL
60 70 80 90 100
EVGSGSGVVS AFLASMIGPQ ALYMCTDINP EAAACTLETA RCNKVHIQPV
110 120 130 140 150
ITDLVKGLLP RLTEKVDLLV FNPPYVVTPP QEVGSHGIEA AWAGGRNGRE
160 170 180 190 200
VMDRFFPLVP DLLSPRGLFY LVTIKENNPE EILKIMKTKG LQGTTALSRQ
210
AGQETLSVLK FTKS
Length:214
Mass (Da):22,957
Last modified:September 27, 2017 - v4
Checksum:i65512C91DC85ADDB
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):19,813
Checksum:i2FBF1CE5562CF2EC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06044534D → N. Corresponds to variant dbSNP:rs1997607Ensembl.1
Natural variantiVAR_060446146R → K1 PublicationCorresponds to variant dbSNP:rs2205447Ensembl.1
Natural variantiVAR_060447166R → K1 PublicationCorresponds to variant dbSNP:rs2205446Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_040294105 – 132Missing in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF139682 mRNA. Translation: AAD38520.1.
AK314100 mRNA. Translation: BAG36794.1.
AF227510 Genomic DNA. No translation available.
AL163248 Genomic DNA. Translation: CAB90428.1.
AMYH02037685 Genomic DNA. No translation available.
KF570251 Genomic DNA. No translation available.
KF457188 Genomic DNA. No translation available.
KC877845 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09939.1.
CH471079 Genomic DNA. Translation: EAX09940.1.
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

Similar proteinsi

Entry informationi

Entry nameiHEMK2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5N5
Secondary accession number(s): B2RA97, Q96F73
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 27, 2017
Last modified: September 27, 2017
This is version 138 of the entry and version 4 of the sequence. See 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