HEMK1 (HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine)

Gene

• Entrez ID: 51409
• Gene name: HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine
• Gene symbol: HEMK1
• Synonyms (NCBI Gene): HEMK, MPRMC, MTQ1
• Chromosome: 3
• Chromosome location: 3p21.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT536926	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT536925	hsa-miR-4311	PAR-CLIP	22012620
MIRT536924	hsa-miR-3185	PAR-CLIP	22012620
MIRT497027	hsa-miR-505-5p	PAR-CLIP	22012620
MIRT497027	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT497026	hsa-miR-3653-3p	PAR-CLIP	22291592
MIRT462210	hsa-miR-548p	PAR-CLIP	23592263
MIRT462209	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT462208	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT462207	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT462205	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT462206	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT462204	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT462203	hsa-miR-4447	PAR-CLIP	23592263
MIRT462202	hsa-miR-4472	PAR-CLIP	23592263
MIRT462201	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT462200	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT536926	hsa-miR-186-5p	PAR-CLIP	22012620
MIRT536925	hsa-miR-4311	PAR-CLIP	22012620
MIRT536924	hsa-miR-3185	PAR-CLIP	22012620
MIRT497027	hsa-miR-505-5p	PAR-CLIP	22012620
MIRT497027	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT497026	hsa-miR-3653-3p	PAR-CLIP	22291592
MIRT462210	hsa-miR-548p	PAR-CLIP	23592263
MIRT462209	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT462208	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT462207	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT462205	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT462206	hsa-miR-6881-5p	PAR-CLIP	23592263
MIRT462204	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT462203	hsa-miR-4447	PAR-CLIP	23592263
MIRT462202	hsa-miR-4472	PAR-CLIP	23592263
MIRT462201	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT462200	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT1044102	hsa-miR-1184	CLIP-seq
MIRT1044103	hsa-miR-1197	CLIP-seq
MIRT1044104	hsa-miR-1205	CLIP-seq
MIRT1044105	hsa-miR-1226	CLIP-seq
MIRT1044106	hsa-miR-1273f	CLIP-seq
MIRT1044107	hsa-miR-1275	CLIP-seq
MIRT1044108	hsa-miR-1285	CLIP-seq
MIRT1044109	hsa-miR-1286	CLIP-seq
MIRT1044110	hsa-miR-1287	CLIP-seq
MIRT1044111	hsa-miR-143	CLIP-seq
MIRT1044112	hsa-miR-15a	CLIP-seq
MIRT1044113	hsa-miR-15b	CLIP-seq
MIRT1044114	hsa-miR-16	CLIP-seq
MIRT1044115	hsa-miR-1915	CLIP-seq
MIRT1044116	hsa-miR-195	CLIP-seq
MIRT1044117	hsa-miR-2467-3p	CLIP-seq
MIRT1044118	hsa-miR-2681	CLIP-seq
MIRT1044119	hsa-miR-2682	CLIP-seq
MIRT1044120	hsa-miR-3064-3p	CLIP-seq
MIRT1044121	hsa-miR-3120-3p	CLIP-seq
MIRT1044122	hsa-miR-3148	CLIP-seq
MIRT1044123	hsa-miR-3150a-3p	CLIP-seq
MIRT1044124	hsa-miR-3152-3p	CLIP-seq
MIRT1044125	hsa-miR-3153	CLIP-seq
MIRT1044126	hsa-miR-3158-5p	CLIP-seq
MIRT1044127	hsa-miR-3175	CLIP-seq
MIRT1044128	hsa-miR-3187-5p	CLIP-seq
MIRT1044129	hsa-miR-3192	CLIP-seq
MIRT1044130	hsa-miR-331-3p	CLIP-seq
MIRT1044131	hsa-miR-335	CLIP-seq
MIRT1044132	hsa-miR-34a	CLIP-seq
MIRT1044133	hsa-miR-34c-5p	CLIP-seq
MIRT1044134	hsa-miR-3607-5p	CLIP-seq
MIRT1044135	hsa-miR-361-5p	CLIP-seq
MIRT1044136	hsa-miR-362-5p	CLIP-seq
MIRT1044137	hsa-miR-3652	CLIP-seq
MIRT1044138	hsa-miR-371-5p	CLIP-seq
MIRT1044139	hsa-miR-371b-5p	CLIP-seq
MIRT1044140	hsa-miR-3936	CLIP-seq
MIRT1044141	hsa-miR-424	CLIP-seq
MIRT1044142	hsa-miR-4257	CLIP-seq
MIRT1044143	hsa-miR-4269	CLIP-seq
MIRT1044144	hsa-miR-4284	CLIP-seq
MIRT1044145	hsa-miR-4300	CLIP-seq
MIRT1044146	hsa-miR-4422	CLIP-seq
MIRT1044147	hsa-miR-4430	CLIP-seq
MIRT1044148	hsa-miR-4436a	CLIP-seq
MIRT1044149	hsa-miR-4436b-3p	CLIP-seq
MIRT1044150	hsa-miR-4476	CLIP-seq
MIRT1044151	hsa-miR-449a	CLIP-seq
MIRT1044152	hsa-miR-449b	CLIP-seq
MIRT1044153	hsa-miR-449c	CLIP-seq
MIRT1044154	hsa-miR-4501	CLIP-seq
MIRT1044155	hsa-miR-4514	CLIP-seq
MIRT1044156	hsa-miR-451b	CLIP-seq
MIRT1044157	hsa-miR-4521	CLIP-seq
MIRT1044158	hsa-miR-4522	CLIP-seq
MIRT1044159	hsa-miR-4525	CLIP-seq
MIRT1044160	hsa-miR-4646-5p	CLIP-seq
MIRT1044161	hsa-miR-4652-5p	CLIP-seq
MIRT1044162	hsa-miR-4665-5p	CLIP-seq
MIRT1044163	hsa-miR-4668-5p	CLIP-seq
MIRT1044164	hsa-miR-4685-5p	CLIP-seq
MIRT1044165	hsa-miR-4690-5p	CLIP-seq
MIRT1044166	hsa-miR-4692	CLIP-seq
MIRT1044167	hsa-miR-4698	CLIP-seq
MIRT1044168	hsa-miR-4701-5p	CLIP-seq
MIRT1044169	hsa-miR-4708-5p	CLIP-seq
MIRT1044170	hsa-miR-4723-5p	CLIP-seq
MIRT1044171	hsa-miR-4733-3p	CLIP-seq
MIRT1044172	hsa-miR-4735-5p	CLIP-seq
MIRT1044173	hsa-miR-4742-5p	CLIP-seq
MIRT1044174	hsa-miR-4755-3p	CLIP-seq
MIRT1044175	hsa-miR-4770	CLIP-seq
MIRT1044176	hsa-miR-4793-5p	CLIP-seq
MIRT1044177	hsa-miR-4795-5p	CLIP-seq
MIRT1044178	hsa-miR-486-3p	CLIP-seq
MIRT1044179	hsa-miR-491-5p	CLIP-seq
MIRT1044180	hsa-miR-497	CLIP-seq
MIRT1044181	hsa-miR-499-3p	CLIP-seq
MIRT1044182	hsa-miR-499a-3p	CLIP-seq
MIRT1044183	hsa-miR-500b	CLIP-seq
MIRT1044184	hsa-miR-501-3p	CLIP-seq
MIRT1044185	hsa-miR-502-3p	CLIP-seq
MIRT1044186	hsa-miR-549	CLIP-seq
MIRT1044187	hsa-miR-558	CLIP-seq
MIRT1044188	hsa-miR-588	CLIP-seq
MIRT1044189	hsa-miR-612	CLIP-seq
MIRT1044190	hsa-miR-625	CLIP-seq
MIRT1044191	hsa-miR-634	CLIP-seq
MIRT1044192	hsa-miR-711	CLIP-seq
MIRT1044193	hsa-miR-765	CLIP-seq
MIRT1044194	hsa-miR-920	CLIP-seq
MIRT1044195	hsa-miR-939	CLIP-seq
MIRT1044102	hsa-miR-1184	CLIP-seq
MIRT2009566	hsa-miR-1229	CLIP-seq
MIRT2009567	hsa-miR-1294	CLIP-seq
MIRT2009568	hsa-miR-1913	CLIP-seq
MIRT2009569	hsa-miR-3127-5p	CLIP-seq
MIRT2009570	hsa-miR-3130-3p	CLIP-seq
MIRT1044125	hsa-miR-3153	CLIP-seq
MIRT2009571	hsa-miR-324-3p	CLIP-seq
MIRT2009572	hsa-miR-3667-3p	CLIP-seq
MIRT2009573	hsa-miR-3918	CLIP-seq
MIRT2009574	hsa-miR-3922-5p	CLIP-seq
MIRT2009575	hsa-miR-3929	CLIP-seq
MIRT2009576	hsa-miR-4297	CLIP-seq
MIRT2009577	hsa-miR-4328	CLIP-seq
MIRT2009578	hsa-miR-4419b	CLIP-seq
MIRT1044149	hsa-miR-4436b-3p	CLIP-seq
MIRT2009579	hsa-miR-4478	CLIP-seq
MIRT2009580	hsa-miR-4639-3p	CLIP-seq
MIRT2009581	hsa-miR-4660	CLIP-seq
MIRT2009582	hsa-miR-4688	CLIP-seq
MIRT2009583	hsa-miR-4691-5p	CLIP-seq
MIRT2009584	hsa-miR-4765	CLIP-seq
MIRT2009585	hsa-miR-4786-3p	CLIP-seq
MIRT2009586	hsa-miR-485-5p	CLIP-seq
MIRT1044178	hsa-miR-486-3p	CLIP-seq
MIRT2009587	hsa-miR-510	CLIP-seq
MIRT2009588	hsa-miR-512-5p	CLIP-seq
MIRT2009589	hsa-miR-671-5p	CLIP-seq
MIRT2241871	hsa-miR-1238	CLIP-seq
MIRT2241872	hsa-miR-1248	CLIP-seq
MIRT1044109	hsa-miR-1286	CLIP-seq
MIRT2241873	hsa-miR-1299	CLIP-seq
MIRT2241874	hsa-miR-149	CLIP-seq
MIRT2009568	hsa-miR-1913	CLIP-seq
MIRT2241875	hsa-miR-1976	CLIP-seq
MIRT2241876	hsa-miR-214	CLIP-seq
MIRT2241877	hsa-miR-22	CLIP-seq
MIRT1044119	hsa-miR-2682	CLIP-seq
MIRT2241878	hsa-miR-27a	CLIP-seq
MIRT2241879	hsa-miR-27b	CLIP-seq
MIRT2241880	hsa-miR-3064-5p	CLIP-seq
MIRT2241881	hsa-miR-3117-5p	CLIP-seq
MIRT2009570	hsa-miR-3130-3p	CLIP-seq
MIRT1044123	hsa-miR-3150a-3p	CLIP-seq
MIRT2241882	hsa-miR-3158-3p	CLIP-seq
MIRT2241883	hsa-miR-3169	CLIP-seq
MIRT1044127	hsa-miR-3175	CLIP-seq
MIRT1044129	hsa-miR-3192	CLIP-seq
MIRT2009571	hsa-miR-324-3p	CLIP-seq
MIRT2241884	hsa-miR-338-3p	CLIP-seq
MIRT2241885	hsa-miR-339-5p	CLIP-seq
MIRT1044134	hsa-miR-3607-5p	CLIP-seq
MIRT1044135	hsa-miR-361-5p	CLIP-seq
MIRT2241886	hsa-miR-3616-3p	CLIP-seq
MIRT2241887	hsa-miR-3619-5p	CLIP-seq
MIRT2009572	hsa-miR-3667-3p	CLIP-seq
MIRT2241888	hsa-miR-3681	CLIP-seq
MIRT2241889	hsa-miR-4291	CLIP-seq
MIRT1044145	hsa-miR-4300	CLIP-seq
MIRT2009577	hsa-miR-4328	CLIP-seq
MIRT1044153	hsa-miR-449c	CLIP-seq
MIRT2241890	hsa-miR-4505	CLIP-seq
MIRT1044155	hsa-miR-4514	CLIP-seq
MIRT2241891	hsa-miR-4635	CLIP-seq
MIRT2241892	hsa-miR-4668-3p	CLIP-seq
MIRT2009583	hsa-miR-4691-5p	CLIP-seq
MIRT1044166	hsa-miR-4692	CLIP-seq
MIRT2241893	hsa-miR-4709-3p	CLIP-seq
MIRT2241894	hsa-miR-4721	CLIP-seq
MIRT2241895	hsa-miR-4722-3p	CLIP-seq
MIRT1044172	hsa-miR-4735-5p	CLIP-seq
MIRT2009585	hsa-miR-4786-3p	CLIP-seq
MIRT1044177	hsa-miR-4795-5p	CLIP-seq
MIRT2241896	hsa-miR-4797-5p	CLIP-seq
MIRT2241897	hsa-miR-483-3p	CLIP-seq
MIRT1044178	hsa-miR-486-3p	CLIP-seq
MIRT1044181	hsa-miR-499-3p	CLIP-seq
MIRT1044182	hsa-miR-499a-3p	CLIP-seq
MIRT2009587	hsa-miR-510	CLIP-seq
MIRT2009588	hsa-miR-512-5p	CLIP-seq
MIRT2241898	hsa-miR-513a-5p	CLIP-seq
MIRT2241899	hsa-miR-663b	CLIP-seq
MIRT1044192	hsa-miR-711	CLIP-seq
MIRT2241900	hsa-miR-761	CLIP-seq
MIRT1044194	hsa-miR-920	CLIP-seq
MIRT2241901	hsa-miR-922	CLIP-seq
MIRT1044195	hsa-miR-939	CLIP-seq
MIRT2241885	hsa-miR-339-5p	CLIP-seq
MIRT2241886	hsa-miR-3616-3p	CLIP-seq
MIRT2009572	hsa-miR-3667-3p	CLIP-seq
MIRT2009583	hsa-miR-4691-5p	CLIP-seq
MIRT2241894	hsa-miR-4721	CLIP-seq
MIRT2545578	hsa-miR-3909	CLIP-seq
MIRT2545579	hsa-miR-4716-5p	CLIP-seq
MIRT2241874	hsa-miR-149	CLIP-seq
MIRT2682262	hsa-miR-24	CLIP-seq
MIRT2682263	hsa-miR-3614-3p	CLIP-seq
MIRT2545578	hsa-miR-3909	CLIP-seq
MIRT1044144	hsa-miR-4284	CLIP-seq
MIRT2545579	hsa-miR-4716-5p	CLIP-seq
MIRT2682264	hsa-miR-892b	CLIP-seq
MIRT2682265	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006415	Process	Translational termination	IBA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008170	Function	N-methyltransferase activity	IEA
GO:0008276	Function	Protein methyltransferase activity	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0036009	Function	Protein-glutamine N-methyltransferase activity	IBA
GO:0102559	Function	Peptide chain release factor N(5)-glutamine methyltransferase activity	IDA	35260756
GO:0102559	Function	Peptide chain release factor N(5)-glutamine methyltransferase activity	IEA

Other IDs

• MIM: 618609
• HGNC: 24923
• e!Ensembl: ENSG00000114735

Protein

• UniProt ID: Q9Y5R4
• Protein name: MTRF1L release factor glutamine methyltransferase (EC 2.1.1.297) (HemK methyltransferase family member 1) (M.HsaHemKP)
• Protein function: N5-glutamine methyltransferase responsible for the methylation of the glutamine residue in the universally conserved GGQ motif of the mitochondrial translation release factors MTRF1, MTRF1L, MRPL58/ICT1 and MTRFR. {ECO:0000269|PubMed:18541145, E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17827	PrmC_N	43 → 115	PrmC N-terminal domain	Domain
  PF05175	MTS	144 → 256	Methyltransferase small domain	Domain

• Sequence:

  MELWGRMLWALLSGPGRRGSTRGWAFSSWQPQPPLAGLSSAIELVSHWTGVFEKRGIPEA
  RESSEYIVAHVLGAKTFQSLRPALWTQPLTSQQLQCIRELSSRRLQRMPVQYILGEWDFQ
  GLSLRMVPPVFIPRPETEELVEWVLEEVAQRSHAVGSPGSPLILEVGCGSGAISLSLLSQ
  LPQSRVIAVDKREAAISLTHENAQRLRLQDRIWIIHLDMTSERSWTHLPWGPMDLIVSNP
  PYVFHQDMEQLAPEIRSYEDPAALDGGEEGMDIITHILALAPRLLKDSGSIFLEVDPRHP
  ELVSSWLQSRPDLYLNLVAVRRDFCGRPRFLHIRRSGP

• Sequence length: 338

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30893695		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31881747	Associate	★☆☆☆☆ Found in Text Mining only