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Protein

HemK methyltransferase family member 1

Gene

HEMK1

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

Functioni

N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei190S-adenosyl-L-methionineBy similarity1
Binding sitei225S-adenosyl-L-methionineBy similarity1
Binding sitei239S-adenosyl-L-methionineBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
HemK methyltransferase family member 1 (EC:2.1.1.-)
Alternative name(s):
M.HsaHemKP
Gene namesi
Name:HEMK1
Synonyms:HEMK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114735.9
HGNCiHGNC:24923 HEMK1
neXtProtiNX_Q9Y5R4

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000114735
PharmGKBiPA134884011

Polymorphism and mutation databases

BioMutaiHEMK1
DMDMi18203634

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001571781 – 338HemK methyltransferase family member 1Add BLAST338

Proteomic databases

EPDiQ9Y5R4
PaxDbiQ9Y5R4
PeptideAtlasiQ9Y5R4
PRIDEiQ9Y5R4
ProteomicsDBi86481

PTM databases

iPTMnetiQ9Y5R4
PhosphoSitePlusiQ9Y5R4

Expressioni

Gene expression databases

BgeeiENSG00000114735
CleanExiHS_HEMK1
ExpressionAtlasiQ9Y5R4 baseline and differential
GenevisibleiQ9Y5R4 HS

Organism-specific databases

HPAiHPA034701
HPA034702

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119527, 8 interactors
IntActiQ9Y5R4, 17 interactors
STRINGi9606.ENSP00000232854

Structurei

3D structure databases

ProteinModelPortaliQ9Y5R4
SMRiQ9Y5R4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni167 – 171S-adenosyl-L-methionine bindingBy similarity5
Regioni239 – 242Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2904 Eukaryota
COG2890 LUCA
GeneTreeiENSGT00390000014125
HOGENOMiHOG000076274
HOVERGENiHBG081597
InParanoidiQ9Y5R4
KOiK02493
OMAiMLVSNPP
OrthoDBiEOG091G0BZV
PhylomeDBiQ9Y5R4
TreeFamiTF324423

Family and domain databases

InterProiView protein in InterPro
IPR002295 D21N6_MeTrfase
IPR002052 DNA_methylase_N6_adenine_CS
IPR004556 Modification_methylase_HemK
IPR019874 Release_fac_Glu-N5_MeTfrase
IPR029063 SAM-dependent_MTases
IPR007848 Small_mtfrase_dom
PfamiView protein in Pfam
PF05175 MTS, 1 hit
PRINTSiPR00506 D21N6MTFRASE
SUPFAMiSSF53335 SSF53335, 1 hit
TIGRFAMsiTIGR00536 hemK_fam, 1 hit
TIGR03534 RF_mod_PrmC, 1 hit
PROSITEiView protein in PROSITE
PS00092 N6_MTASE, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y5R4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MELWGRMLWA LLSGPGRRGS TRGWAFSSWQ PQPPLAGLSS AIELVSHWTG
60 70 80 90 100
VFEKRGIPEA RESSEYIVAH VLGAKTFQSL RPALWTQPLT SQQLQCIREL
110 120 130 140 150
SSRRLQRMPV QYILGEWDFQ GLSLRMVPPV FIPRPETEEL VEWVLEEVAQ
160 170 180 190 200
RSHAVGSPGS PLILEVGCGS GAISLSLLSQ LPQSRVIAVD KREAAISLTH
210 220 230 240 250
ENAQRLRLQD RIWIIHLDMT SERSWTHLPW GPMDLIVSNP PYVFHQDMEQ
260 270 280 290 300
LAPEIRSYED PAALDGGEEG MDIITHILAL APRLLKDSGS IFLEVDPRHP
310 320 330
ELVSSWLQSR PDLYLNLVAV RRDFCGRPRF LHIRRSGP
Length:338
Mass (Da):38,231
Last modified:November 1, 1999 - v1
Checksum:i5AB5DF554D9978B4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049503192R → Q. Corresponds to variant dbSNP:rs2232250Ensembl.1
Natural variantiVAR_049504200H → Q. Corresponds to variant dbSNP:rs2232251Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF131220 mRNA Translation: AAD26417.1
AF172244 mRNA Translation: AAD51328.1
BC000781 mRNA Translation: AAH00781.1
CCDSiCCDS2830.1
RefSeqiNP_001304780.1, NM_001317851.1
NP_057257.1, NM_016173.4
UniGeneiHs.517987
Hs.599362
Hs.619894

Genome annotation databases

EnsembliENST00000232854; ENSP00000232854; ENSG00000114735
ENST00000434410; ENSP00000404843; ENSG00000114735
ENST00000455834; ENSP00000404334; ENSG00000114735
GeneIDi51409
KEGGihsa:51409
UCSCiuc003dau.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHEMK1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5R4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 135 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

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