Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51603
Gene name	Methyltransferase 13, eEF1A N-terminus and K55
Gene symbol	METTL13
Synonyms (NCBI Gene)	5630401D24RikCGI-01DFNB26DFNB26MDFNM1EEF1AKNMTKIAA0859feat
Chromosome	1
Chromosome location	1q24.3

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SNP ID	Visualize variation	Clinical significance	Consequence
rs145666727	G>A	Risk-factor	Coding sequence variant, missense variant

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041529	hsa-miR-193b-3p	CLASH	23622248
MIRT039114	hsa-miR-769-3p	CLASH	23622248
MIRT1143769	hsa-miR-124	CLIP-seq
MIRT1143770	hsa-miR-1278	CLIP-seq
MIRT1143771	hsa-miR-2053	CLIP-seq
MIRT1143772	hsa-miR-210	CLIP-seq
MIRT1143773	hsa-miR-214	CLIP-seq
MIRT1143774	hsa-miR-3120-5p	CLIP-seq
MIRT1143775	hsa-miR-3180-5p	CLIP-seq
MIRT1143776	hsa-miR-3184	CLIP-seq
MIRT1143777	hsa-miR-342-3p	CLIP-seq
MIRT1143778	hsa-miR-3619-5p	CLIP-seq
MIRT1143779	hsa-miR-3714	CLIP-seq
MIRT1143780	hsa-miR-371-5p	CLIP-seq
MIRT1143781	hsa-miR-371b-5p	CLIP-seq
MIRT1143782	hsa-miR-3910	CLIP-seq
MIRT1143783	hsa-miR-3940-5p	CLIP-seq
MIRT1143784	hsa-miR-423-5p	CLIP-seq
MIRT1143785	hsa-miR-4291	CLIP-seq
MIRT1143786	hsa-miR-4302	CLIP-seq
MIRT1143787	hsa-miR-4303	CLIP-seq
MIRT1143788	hsa-miR-4318	CLIP-seq
MIRT1143789	hsa-miR-4327	CLIP-seq
MIRT1143790	hsa-miR-4426	CLIP-seq
MIRT1143791	hsa-miR-4480	CLIP-seq
MIRT1143792	hsa-miR-4507	CLIP-seq
MIRT1143793	hsa-miR-4533	CLIP-seq
MIRT1143794	hsa-miR-4647	CLIP-seq
MIRT1143795	hsa-miR-4649-3p	CLIP-seq
MIRT1143796	hsa-miR-4659a-3p	CLIP-seq
MIRT1143797	hsa-miR-4659b-3p	CLIP-seq
MIRT1143798	hsa-miR-4662b	CLIP-seq
MIRT1143799	hsa-miR-4688	CLIP-seq
MIRT1143800	hsa-miR-4693-5p	CLIP-seq
MIRT1143801	hsa-miR-4747-5p	CLIP-seq
MIRT1143802	hsa-miR-4760-5p	CLIP-seq
MIRT1143803	hsa-miR-4762-5p	CLIP-seq
MIRT1143804	hsa-miR-506	CLIP-seq
MIRT1143805	hsa-miR-548k	CLIP-seq
MIRT1143806	hsa-miR-548n	CLIP-seq
MIRT1143807	hsa-miR-603	CLIP-seq
MIRT1143808	hsa-miR-629	CLIP-seq
MIRT1143809	hsa-miR-761	CLIP-seq
MIRT1143810	hsa-miR-892a	CLIP-seq
MIRT1143811	hsa-miR-922	CLIP-seq
MIRT1143812	hsa-miR-362-5p	CLIP-seq
MIRT1143813	hsa-miR-4330	CLIP-seq
MIRT1143814	hsa-miR-4720-3p	CLIP-seq
MIRT1143815	hsa-miR-500b	CLIP-seq
MIRT1143816	hsa-miR-501-5p	CLIP-seq
MIRT2040912	hsa-miR-4464	CLIP-seq
MIRT2040913	hsa-miR-4748	CLIP-seq
MIRT2040914	hsa-miR-624	CLIP-seq
MIRT2040915	hsa-miR-3125	CLIP-seq
MIRT2040916	hsa-miR-3916	CLIP-seq
MIRT2270557	hsa-miR-4471	CLIP-seq
MIRT2270558	hsa-miR-1470	CLIP-seq
MIRT2270559	hsa-miR-4251	CLIP-seq
MIRT2270560	hsa-miR-4469	CLIP-seq
MIRT2270561	hsa-miR-4667-3p	CLIP-seq
MIRT2270562	hsa-miR-539	CLIP-seq
MIRT2569721	hsa-miR-1207-5p	CLIP-seq
MIRT1143770	hsa-miR-1278	CLIP-seq
MIRT2569722	hsa-miR-1289	CLIP-seq
MIRT2569723	hsa-miR-1298	CLIP-seq
MIRT1143772	hsa-miR-210	CLIP-seq
MIRT2569724	hsa-miR-3128	CLIP-seq
MIRT2569725	hsa-miR-3192	CLIP-seq
MIRT2569726	hsa-miR-326	CLIP-seq
MIRT2569727	hsa-miR-330-5p	CLIP-seq
MIRT2569728	hsa-miR-3974	CLIP-seq
MIRT1143788	hsa-miR-4318	CLIP-seq
MIRT2569729	hsa-miR-4505	CLIP-seq
MIRT1143796	hsa-miR-4659a-3p	CLIP-seq
MIRT1143797	hsa-miR-4659b-3p	CLIP-seq
MIRT1143800	hsa-miR-4693-5p	CLIP-seq
MIRT2569730	hsa-miR-4720-5p	CLIP-seq
MIRT2569731	hsa-miR-4736	CLIP-seq
MIRT2569732	hsa-miR-4763-3p	CLIP-seq
MIRT2569733	hsa-miR-4799-3p	CLIP-seq
MIRT1143805	hsa-miR-548k	CLIP-seq
MIRT1143806	hsa-miR-548n	CLIP-seq
MIRT2569734	hsa-miR-622	CLIP-seq
MIRT1143810	hsa-miR-892a	CLIP-seq
MIRT1143770	hsa-miR-1278	CLIP-seq
MIRT2569723	hsa-miR-1298	CLIP-seq
MIRT1143772	hsa-miR-210	CLIP-seq
MIRT1143788	hsa-miR-4318	CLIP-seq
MIRT1143796	hsa-miR-4659a-3p	CLIP-seq
MIRT1143797	hsa-miR-4659b-3p	CLIP-seq
MIRT1143800	hsa-miR-4693-5p	CLIP-seq
MIRT1143805	hsa-miR-548k	CLIP-seq
MIRT1143806	hsa-miR-548n	CLIP-seq
MIRT1143810	hsa-miR-892a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 29408807, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IDA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	30143613
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA

MIM	HGNC	e!Ensembl
617987	24248	ENSG00000010165

Q8N6R0

Protein name

eEF1A lysine and N-terminal methyltransferase (eEF1A-KNMT) (Methyltransferase-like protein 13) [Includes: eEF1A lysine methyltransferase (EC 2.1.1.-); eEF1A N-terminal methyltransferase (EC 2.1.1.-)]

Protein function

Dual methyltransferase that catalyzes methylation of elongation factor 1-alpha (EEF1A1 and EEF1A2) at two different positions, and is therefore involved in the regulation of mRNA translation (PubMed:30143613, PubMed:30612740). Via its C-terminus

PDB

5WCJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08241	Methyltransf_11	53 → 158	Methyltransferase domain	Domain
PF01564	Spermine_synth	472 → 628		Domain

Sequence

MNLLPKSSREFGSVDYWEKFFQQRGKKAFEWYGTYLELCGVLHKYIKPREKVLVIGCGNS
ELSEQLYDVGYRDIVNIDISEVVIKQMKECNATRRPQMSFLKMDMTQMEFPDASFQVVLD
KGTLDAVLTDEEEKTLQQVDRMLAEVGRVLQVGGRYLCISLAQAHILKKAVGHFSREGWM
VRVHQVANSQDQVLEAEPQFSLPVFAFIMTKFRPVPGSALQIFELCAQEQRKPVRLESAE
RLAEAVQERQQYAWLCSQLRRKARLGSVSLDLCDGDTGEPRYTLHVVDSPTVKPSRDNHF
AIFIIPQGRETEWLFGMDEGRKQLAASAGFRRLITVALHRGQQYESMDHIQAELSARVME
LAPAGMPTQQQVPFLSVGGDIGVRTVQHQDCSPLSGDYVIEDVQGDDKRYFRRLIFLSNR
NVVQSEARLLKDVSHKAQKKRKKDRKKQRPADAEDLPAAPGQSIDKSYLCCEHHKAMIAG
LALLRNPELLLEIPLALLVVGLGGGSLPLFVHDHFPKSCIDAVEIDPSMLEVATQWFGFS
QSDRMKVHIADGLDYIASLAGGGEARPCYDVIMFDVDSKDPTLGMSCPPPAFVEQSFLQK
VKSILTPEGVFILNLVCRDLGLKDSVLAGLKAVFPLLYVRRIEGEVNEILFCQLHPEQKL
ATPELLETAQALERTLRKPGRGWDDTYVLSDMLKTVKIV

Sequence length

699

Interactions

View interactions

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, autosomal recessive 26, modifier of	risk factor	ClinVar CTD, ClinVar	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METTL13-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

METTL13 (methyltransferase 13, eEF1A N-terminus and K55)