METTL13 methyltransferase 13, eEF1A N-terminus and K55 [Homo sapiens (human)] - Gene

Summary

Official Symbol: METTL13provided by HGNC
Official Full Name: methyltransferase 13, eEF1A N-terminus and K55provided by HGNC
Primary source: HGNC:HGNC:24248
See related: Ensembl:ENSG00000010165 MIM:617987; AllianceGenome:HGNC:24248
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: feat; DFNM1; CGI-01; DFNB26; DFNB26M; KIAA0859; EEF1AKNMT; 5630401D24Rik
Summary: Predicted to enable methyltransferase activity. Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of transcription by RNA polymerase II. Predicted to be located in mitochondrion and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 10.7), lymph node (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (171781660..171797716)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (171138134..171154190)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (171750800..171766856)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis.
Title: METTL13 promotes nasopharyngeal carcinoma progression through regulating the ZEB1/TPT1 axis.
METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1alpha pathway and c-Myc expression.
Title: METTL13 inhibits progression of clear cell renal cell carcinoma with repression on PI3K/AKT/mTOR/HIF-1α pathway and c-Myc expression.
MiR-16 inhibits hepatocellular carcinoma progression by targeting FEAT through NF-kappaB signaling pathway.
Title: MiR-16 inhibits hepatocellular carcinoma progression by targeting FEAT through NF-κB signaling pathway.
METTL13 and eEF1AK55me2 levels are upregulated in cancer and negatively correlate with pancreatic and lung cancer patient survival. METTL13 deletion and eEF1AK55me2 loss dramatically reduce Ras-driven neoplastic growth in mouse models and in patient-derived xenografts (PDXs) from primary pancreatic and lung tumors.
Title: METTL13 Methylation of eEF1A Increases Translational Output to Promote Tumorigenesis.
The Mettl3-Mettl14-mediated m6A was found to promote the development of acute myeloid leukemia and maintain leukemia-initiating cells.
Title: Mettl3-Mettl14 methyltransferase complex regulates the quiescence of adult hematopoietic stem cells.
The DFNM1 gene modified the phenotype of a inherited deafness family possibly by silencing the DFNB26 mutated gene.
Title: Some deafness-causing mutations can be silenced with the appropriate gene partner.
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Title: Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
disease-free survival and overall survival were significantly shorter in breast cancer patients with high FEAT expression than in those with low expression of FEAT
Title: FEAT expression correlates with tumor size, PR status, HER2 expression, Ki67 index, and molecular subtype and predicts recurrence in breast cancer.
METTL13 gene rs2232825 locus or a linked functional locus may modulate the vulnerability to development of postpartum psychosis.
Title: Estrogen pathway related genes and their association with risk of postpartum psychosis: A case control study.
Single nucleotide polymorphism association study demonstrated association METTL13 on chromosome 1 with Postpartum Depression.METTL13 is putatively involved with methyltransferase activity, which has been shown to play a role in estrogen receptor-induced gene transcription.
Title: Reproductive Affective Disorders: a Review of the Genetic Evidence for Premenstrual Dysphoric Disorder and Postpartum Depression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deafness, autosomal recessive 26, modifier of MedGen: C1854274 OMIM: 605429 GeneReviews: Not available	not available

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

A008C33 (e-PCR)
- UniSTS:59795

SHGC-75916 (e-PCR)
- UniSTS:42133

SHGC-75891 (e-PCR)
- UniSTS:55791

RH78865 (e-PCR)
- UniSTS:26110

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell cycle G1/S phase transition	IMP Inferred from Mutant Phenotype more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: eEF1A lysine and N-terminal methyltransferase

Names: antiapoptotic protein FEAT; deafness (autosomal recessive, nonsyndromic) modifier 1; deafness (recessive, non-syndromic) modifier 1; deafness (recessive, nonsyndromic) modifier 1; eEF1A-KNMT; faint expression in normal tissues, aberrant overexpression in tumors; methyltransferase 13, eEF1A lysine and N-terminal methyltransferase; methyltransferase like 13; methyltransferase-like protein 13

NP_001007240.1

EC 2.1.1.-

NP_055770.1

EC 2.1.1.-

NP_057019.3

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001007239.2 → NP_001007240.1 eEF1A lysine and N-terminal methyltransferase isoform 3

See identical proteins and their annotated locations for NP_001007240.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, as compared to variant 1. The encoded isoform 3 thus lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AL049669, BI091265, BX094025

Consensus CDS

CCDS30936.1

UniProtKB/Swiss-Prot

Q8N6R0

Related

ENSP00000356711.5, ENST00000367737.9

Conserved Domains (3) summary

COG0500
Location:344 → 494

SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

pfam08241
Location:53 → 151

Methyltransf_11; Methyltransferase domain

cl17173
Location:343 → 517

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_014955.3 → NP_055770.1 eEF1A lysine and N-terminal methyltransferase isoform 2

See identical proteins and their annotated locations for NP_055770.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an internal segment in the 5' region and uses a downstream AUG start codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK027621, AL049669, BI091265, BX094025

Consensus CDS

CCDS1300.1

UniProtKB/TrEMBL

B3KNM8

Related

ENSP00000355393.3, ENST00000362019.7

Conserved Domains (2) summary

COG0500
Location:414 → 564

SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

cl17173
Location:413 → 587

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_015935.5 → NP_057019.3 eEF1A lysine and N-terminal methyltransferase isoform 1

See identical proteins and their annotated locations for NP_057019.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB020666, AF132936, AL049669, BI091265, BX094025

Consensus CDS

CCDS1299.1

UniProtKB/Swiss-Prot

A6NFK0, A8K6S5, O94940, Q53EZ6, Q5TGP9, Q5TGQ0, Q8N2P8, Q8N6R0, Q96J11, Q96SQ0, Q9Y2Z1, Q9Y3M6

UniProtKB/TrEMBL

B3KNI0, C4B4C6

Related

ENSP00000354920.3, ENST00000361735.4

Conserved Domains (3) summary

COG0500
Location:500 → 650

SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

pfam08241
Location:53 → 158

Methyltransf_11; Methyltransferase domain

cl17173
Location:499 → 673

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...