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Protein

HemK methyltransferase family member 1

Gene

HEMK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

HGNCiHGNC:24923. HEMK1.

Subcellular locationi

GO - Cellular componenti

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.

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.
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: August 30, 2017
This is version 130 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