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

Show/Hide all (1)

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

Show/Hide all (14)

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

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26031775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26763933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27881013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26031775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26031775, 31841182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26763933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26031775, 30612740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26031775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34347888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37061119	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22355534, 26031775, 30778199, 31841182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30612740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22355534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27881013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22355534, 26031775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26031775, 30612740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26763933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26763933, 27881013, 30612740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26763933, 27881013, 30612740		★★★★★ ★☆☆☆☆ Found in Text Mining only

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