The new UniProt website is here!
Take me to UniProt BETA
UniProtKB - Q9Y5R4 (HEMK1_HUMAN)
Protein
MTRF1L release factor glutamine methyltransferase
Gene
HEMK1
Organism
Homo sapiens (Human)
Status
Functioni
N5-glutamine methyltransferase responsible for the methylation of the glutamine residue in the universally conserved GGQ motif of the mitochondrial translation release factor MTRF1L.
1 PublicationCatalytic activityi
- L-glutaminyl-[peptide chain release factor] + S-adenosyl-L-methionine = H+ + N5-methyl-L-glutaminyl-[peptide chain release factor] + S-adenosyl-L-homocysteine1 PublicationEC:2.1.1.2971 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 190 | S-adenosyl-L-methionineBy similarity | 1 | |
Binding sitei | 225 | S-adenosyl-L-methionineBy similarity | 1 | |
Binding sitei | 239 | S-adenosyl-L-methionineBy similarity | 1 |
GO - Molecular functioni
- DNA binding Source: InterPro
- N-methyltransferase activity Source: InterPro
- protein-(glutamine-N5) methyltransferase activity Source: UniProtKB-EC
- protein methyltransferase activity Source: InterPro
GO - Biological processi
- DNA methylation Source: InterPro
Keywordsi
Molecular function | Methyltransferase, Transferase |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
BRENDAi | 2.1.1.297, 2681 |
PathwayCommonsi | Q9Y5R4 |
SignaLinki | Q9Y5R4 |
Names & Taxonomyi
Protein namesi | Recommended name: MTRF1L release factor glutamine methyltransferase1 Publication (EC:2.1.1.2971 Publication)Alternative name(s): HemK methyltransferase family member 1 M.HsaHemKP |
Gene namesi | Name:HEMK1 Synonyms:HEMK |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24923, HEMK1 |
MIMi | 618609, gene |
neXtProti | NX_Q9Y5R4 |
VEuPathDBi | HostDB:ENSG00000114735 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Mitochondrion
- mitochondrion Source: UniProtKB-SubCell
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 51409 |
OpenTargetsi | ENSG00000114735 |
PharmGKBi | PA134884011 |
Miscellaneous databases
Pharosi | Q9Y5R4, Tbio |
Genetic variation databases
BioMutai | HEMK1 |
DMDMi | 18203634 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000157178 | 1 – 338 | MTRF1L release factor glutamine methyltransferaseAdd BLAST | 338 |
Proteomic databases
EPDi | Q9Y5R4 |
jPOSTi | Q9Y5R4 |
MassIVEi | Q9Y5R4 |
PaxDbi | Q9Y5R4 |
PeptideAtlasi | Q9Y5R4 |
PRIDEi | Q9Y5R4 |
ProteomicsDBi | 86481 |
PTM databases
iPTMneti | Q9Y5R4 |
PhosphoSitePlusi | Q9Y5R4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000114735, Expressed in stomach and 217 other tissues |
ExpressionAtlasi | Q9Y5R4, baseline and differential |
Genevisiblei | Q9Y5R4, HS |
Organism-specific databases
HPAi | ENSG00000114735, Low tissue specificity |
Interactioni
Binary interactionsi
Q9Y5R4
Protein-protein interaction databases
BioGRIDi | 119527, 32 interactors |
IntActi | Q9Y5R4, 24 interactors |
STRINGi | 9606.ENSP00000404843 |
Miscellaneous databases
RNActi | Q9Y5R4, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 167 – 171 | S-adenosyl-L-methionine bindingBy similarity | 5 | |
Regioni | 239 – 242 | Substrate bindingBy similarity | 4 |
Sequence similaritiesi
Belongs to the protein N5-glutamine methyltransferase family.Curated
Phylogenomic databases
eggNOGi | KOG2904, Eukaryota |
GeneTreei | ENSGT00390000014125 |
HOGENOMi | CLU_018398_4_1_1 |
InParanoidi | Q9Y5R4 |
OMAi | FDARYWE |
OrthoDBi | 1513943at2759 |
PhylomeDBi | Q9Y5R4 |
TreeFami | TF324423 |
Family and domain databases
Gene3Di | 3.40.50.150, 1 hit |
InterProi | View protein in InterPro IPR002295, D21N6_MeTrfase IPR002052, DNA_methylase_N6_adenine_CS IPR004556, HemK-like IPR040758, PrmC_N IPR019874, Release_fac_Glu-N5_MeTfrase IPR029063, SAM-dependent_MTases IPR007848, Small_mtfrase_dom |
Pfami | View protein in Pfam PF05175, MTS, 1 hit PF17827, PrmC_N, 1 hit |
PRINTSi | PR00506, D21N6MTFRASE |
SUPFAMi | SSF53335, SSF53335, 1 hit |
TIGRFAMsi | TIGR00536, hemK_fam, 1 hit TIGR03534, RF_mod_PrmC, 1 hit |
PROSITEi | View protein in PROSITE PS00092, N6_MTASE, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q9Y5R4-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C258 | H7C258_HUMAN | MTRF1L release factor glutamine met... | HEMK1 | 124 | Annotation score: | ||
F2Z2F0 | F2Z2F0_HUMAN | MTRF1L release factor glutamine met... | HEMK1 | 88 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049503 | 192 | R → Q. Corresponds to variant dbSNP:rs2232250Ensembl. | 1 | |
Natural variantiVAR_049504 | 200 | H → 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 |
CCDSi | CCDS2830.1 |
RefSeqi | NP_001304780.1, NM_001317851.1 NP_057257.1, NM_016173.4 |
Genome annotation databases
Ensembli | ENST00000232854.9; ENSP00000232854.4; ENSG00000114735.10 ENST00000434410.5; ENSP00000404843.1; ENSG00000114735.10 ENST00000455834.5; ENSP00000404334.1; ENSG00000114735.10 |
GeneIDi | 51409 |
KEGGi | hsa:51409 |
MANE-Selecti | ENST00000232854.9; ENSP00000232854.4; NM_016173.5; NP_057257.1 |
UCSCi | uc003dau.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS2830.1 |
RefSeqi | NP_001304780.1, NM_001317851.1 NP_057257.1, NM_016173.4 |
3D structure databases
AlphaFoldDBi | Q9Y5R4 |
SMRi | Q9Y5R4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119527, 32 interactors |
IntActi | Q9Y5R4, 24 interactors |
STRINGi | 9606.ENSP00000404843 |
PTM databases
iPTMneti | Q9Y5R4 |
PhosphoSitePlusi | Q9Y5R4 |
Genetic variation databases
BioMutai | HEMK1 |
DMDMi | 18203634 |
Proteomic databases
EPDi | Q9Y5R4 |
jPOSTi | Q9Y5R4 |
MassIVEi | Q9Y5R4 |
PaxDbi | Q9Y5R4 |
PeptideAtlasi | Q9Y5R4 |
PRIDEi | Q9Y5R4 |
ProteomicsDBi | 86481 |
Protocols and materials databases
Antibodypediai | 30986, 169 antibodies from 21 providers |
DNASUi | 51409 |
Genome annotation databases
Ensembli | ENST00000232854.9; ENSP00000232854.4; ENSG00000114735.10 ENST00000434410.5; ENSP00000404843.1; ENSG00000114735.10 ENST00000455834.5; ENSP00000404334.1; ENSG00000114735.10 |
GeneIDi | 51409 |
KEGGi | hsa:51409 |
MANE-Selecti | ENST00000232854.9; ENSP00000232854.4; NM_016173.5; NP_057257.1 |
UCSCi | uc003dau.4, human |
Organism-specific databases
CTDi | 51409 |
DisGeNETi | 51409 |
GeneCardsi | HEMK1 |
HGNCi | HGNC:24923, HEMK1 |
HPAi | ENSG00000114735, Low tissue specificity |
MIMi | 618609, gene |
neXtProti | NX_Q9Y5R4 |
OpenTargetsi | ENSG00000114735 |
PharmGKBi | PA134884011 |
VEuPathDBi | HostDB:ENSG00000114735 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2904, Eukaryota |
GeneTreei | ENSGT00390000014125 |
HOGENOMi | CLU_018398_4_1_1 |
InParanoidi | Q9Y5R4 |
OMAi | FDARYWE |
OrthoDBi | 1513943at2759 |
PhylomeDBi | Q9Y5R4 |
TreeFami | TF324423 |
Enzyme and pathway databases
BRENDAi | 2.1.1.297, 2681 |
PathwayCommonsi | Q9Y5R4 |
SignaLinki | Q9Y5R4 |
Miscellaneous databases
BioGRID-ORCSi | 51409, 9 hits in 1079 CRISPR screens |
GenomeRNAii | 51409 |
Pharosi | Q9Y5R4, Tbio |
PROi | PR:Q9Y5R4 |
RNActi | Q9Y5R4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114735, Expressed in stomach and 217 other tissues |
ExpressionAtlasi | Q9Y5R4, baseline and differential |
Genevisiblei | Q9Y5R4, HS |
Family and domain databases
Gene3Di | 3.40.50.150, 1 hit |
InterProi | View protein in InterPro IPR002295, D21N6_MeTrfase IPR002052, DNA_methylase_N6_adenine_CS IPR004556, HemK-like IPR040758, PrmC_N IPR019874, Release_fac_Glu-N5_MeTfrase IPR029063, SAM-dependent_MTases IPR007848, Small_mtfrase_dom |
Pfami | View protein in Pfam PF05175, MTS, 1 hit PF17827, PrmC_N, 1 hit |
PRINTSi | PR00506, D21N6MTFRASE |
SUPFAMi | SSF53335, SSF53335, 1 hit |
TIGRFAMsi | TIGR00536, hemK_fam, 1 hit TIGR03534, RF_mod_PrmC, 1 hit |
PROSITEi | View protein in PROSITE PS00092, N6_MTASE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HEMK1_HUMAN | |
Accessioni | Q9Y5R4Primary (citable) accession number: Q9Y5R4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | November 1, 1999 | |
Last modified: | May 25, 2022 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families