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Protein

HemK methyltransferase family member 1

Gene

HEMK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei190 – 1901S-adenosyl-L-methionineBy similarity
Binding sitei225 – 2251S-adenosyl-L-methionineBy similarity
Binding sitei239 – 2391S-adenosyl-L-methionineBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

S-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

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134884011.

Polymorphism and mutation databases

BioMutaiHEMK1.
DMDMi18203634.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 338338HemK methyltransferase family member 1PRO_0000157178Add
BLAST

Proteomic databases

PaxDbiQ9Y5R4.
PRIDEiQ9Y5R4.

PTM databases

iPTMnetiQ9Y5R4.

Expressioni

Gene expression databases

BgeeiQ9Y5R4.
CleanExiHS_HEMK1.
ExpressionAtlasiQ9Y5R4. baseline and differential.
GenevisibleiQ9Y5R4. HS.

Organism-specific databases

HPAiHPA034701.
HPA034702.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CDC23Q9UJX23EBI-10329202,EBI-396137
CHN1P158823EBI-10329202,EBI-718947

Protein-protein interaction databases

BioGridi119527. 6 interactions.
IntActiQ9Y5R4. 2 interactions.
STRINGi9606.ENSP00000232854.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5R4.
SMRiQ9Y5R4. Positions 67-272.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni167 – 1715S-adenosyl-L-methionine bindingBy similarity
Regioni239 – 2424Substrate bindingBy similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2904. Eukaryota.
COG2890. LUCA.
GeneTreeiENSGT00390000014125.
HOGENOMiHOG000076274.
HOVERGENiHBG081597.
InParanoidiQ9Y5R4.
KOiK02493.
OMAiHWTRVFE.
OrthoDBiEOG7DJSN3.
PhylomeDBiQ9Y5R4.
TreeFamiTF324423.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002295. 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.
[Graphical view]
PfamiPF05175. MTS. 1 hit.
[Graphical view]
PRINTSiPR00506. D21N6MTFRASE.
SUPFAMiSSF53335. SSF53335. 1 hit.
TIGRFAMsiTIGR00536. hemK_fam. 1 hit.
TIGR03534. RF_mod_PrmC. 1 hit.
PROSITEiPS00092. N6_MTASE. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti192 – 1921R → Q.
Corresponds to variant rs2232250 [ dbSNP | Ensembl ].
VAR_049503
Natural varianti200 – 2001H → Q.
Corresponds to variant rs2232251 [ dbSNP | Ensembl ].
VAR_049504

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

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.
CCDSiCCDS2830.1.
RefSeqiNP_001304780.1. NM_001317851.1.
NP_057257.1. NM_016173.4.
UniGeneiHs.517987.
Hs.599362.
Hs.619894.

3D structure databases

ProteinModelPortaliQ9Y5R4.
SMRiQ9Y5R4. Positions 67-272.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119527. 6 interactions.
IntActiQ9Y5R4. 2 interactions.
STRINGi9606.ENSP00000232854.

PTM databases

iPTMnetiQ9Y5R4.

Polymorphism and mutation databases

BioMutaiHEMK1.
DMDMi18203634.

Proteomic databases

PaxDbiQ9Y5R4.
PRIDEiQ9Y5R4.

Protocols and materials databases

DNASUi51409.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51409.
GeneCardsiHEMK1.
HGNCiHGNC:24923. HEMK1.
HPAiHPA034701.
HPA034702.
neXtProtiNX_Q9Y5R4.
PharmGKBiPA134884011.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2904. Eukaryota.
COG2890. LUCA.
GeneTreeiENSGT00390000014125.
HOGENOMiHOG000076274.
HOVERGENiHBG081597.
InParanoidiQ9Y5R4.
KOiK02493.
OMAiHWTRVFE.
OrthoDBiEOG7DJSN3.
PhylomeDBiQ9Y5R4.
TreeFamiTF324423.

Miscellaneous databases

GenomeRNAii51409.
PROiQ9Y5R4.

Gene expression databases

BgeeiQ9Y5R4.
CleanExiHS_HEMK1.
ExpressionAtlasiQ9Y5R4. baseline and differential.
GenevisibleiQ9Y5R4. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR002295. 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.
[Graphical view]
PfamiPF05175. MTS. 1 hit.
[Graphical view]
PRINTSiPR00506. D21N6MTFRASE.
SUPFAMiSSF53335. SSF53335. 1 hit.
TIGRFAMsiTIGR00536. hemK_fam. 1 hit.
TIGR03534. RF_mod_PrmC. 1 hit.
PROSITEiPS00092. N6_MTASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human Hemk protein homolog located in the 3p21.3 homozygous deletion region is a candidate tumor suppressor gene."
    Zeng Y.G., Forgacs E., Lerman M.I., Minna J.D.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Placenta.
  2. "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].
    Tissue: Placenta.
  3. "The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC."
    Ishizawa T., Nozaki Y., Ueda T., Takeuchi N.
    Biochem. Biophys. Res. Commun. 373:99-103(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHEMK1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5R4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1999
Last modified: June 8, 2016
This is version 120 of the entry and version 1 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

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

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.