METTL5 methyltransferase 5, N6-adenosine [Homo sapiens (human)] - Gene

Summary

Official Symbol: METTL5provided by HGNC
Official Full Name: methyltransferase 5, N6-adenosineprovided by HGNC
Primary source: HGNC:HGNC:25006
See related: Ensembl:ENSG00000138382 MIM:618628; AllianceGenome:HGNC:25006
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: MRT72; HSPC133
Summary: Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6-)-methyltransferase activity. Involved in positive regulation of translation and rRNA methylation. Located in nucleus; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder-72. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (169811757..169824905, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (170289301..170302459, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (170668267..170681415, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of METTL5 inhibits the Myc pathway to downregulate PD-L1 expression and inhibits immune escape of hepatocellular carcinoma cells.
Title: Knockdown of METTL5 inhibits the Myc pathway to downregulate PD-L1 expression and inhibits immune escape of hepatocellular carcinoma cells.
METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression.
Title: METTL5 stabilizes c-Myc by facilitating USP5 translation to reprogram glucose metabolism and promote hepatocellular carcinoma progression.
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Title: Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
The potential role of methyltransferase-like 5 in deficient mismatch repair of uterine corpus endometrial carcinoma.
Title: The potential role of methyltransferase-like 5 in deficient mismatch repair of uterine corpus endometrial carcinoma.
Ribosome 18S m(6)A Methyltransferase METTL5 Promotes Translation Initiation and Breast Cancer Cell Growth.
Title: Ribosome 18S m(6)A Methyltransferase METTL5 Promotes Translation Initiation and Breast Cancer Cell Growth.
Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network.
Title: Analysis of the role of METTL5 as a hub gene in lung adenocarcinoma based on a weighted gene co-expression network.
Enzymatic characterization of three human RNA adenosine methyltransferases reveals diverse substrate affinities and reaction optima.
Title: Enzymatic characterization of three human RNA adenosine methyltransferases reveals diverse substrate affinities and reaction optima.
METTL5-TRMT112 partners act by extruding the adenosine to be modified from a double-stranded nucleic acid.
Title: The human 18S rRNA m6A methyltransferase METTL5 is stabilized by TRMT112.

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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
Intellectual developmental disorder, autosomal recessive 72 MedGen: C5231452 OMIM: 618665 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

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

RH68407 (e-PCR)
- UniSTS:89205

D2S2569 (e-PCR)
- UniSTS:62597

RH12569 (e-PCR)
- UniSTS:86172

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables S-adenosyl-L-methionine binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA (adenine-N6-)-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA (adenine-N6-)-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rRNA N6-adenosine-methyltransferase METTL5

Names: methyltransferase like 5; methyltransferase-like protein 5

NP_001280115.1

EC 2.1.1.-

NP_001280116.1

EC 2.1.1.-

NP_054887.2

EC 2.1.1.-

XP_011509325.1

EC 2.1.1.-

XP_047299971.1

EC 2.1.1.-

XP_054197508.1

EC 2.1.1.-

XP_054197509.1

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_001293186.2 → NP_001280115.1 rRNA N6-adenosine-methyltransferase METTL5

See identical proteins and their annotated locations for NP_001280115.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AF201938, CA337169

Consensus CDS

CCDS33320.1

UniProtKB/Swiss-Prot

D3DPC9, Q9NRN9, Q9NVX1

UniProtKB/TrEMBL

B8ZZE3

Related

ENSP00000386582.1, ENST00000409965.5

Conserved Domains (1) summary

COG2263
Location:7 → 209

COG2263; Predicted RNA methylase [General function prediction only]
NM_001293187.2 → NP_001280116.1 rRNA N6-adenosine-methyltransferase METTL5

See identical proteins and their annotated locations for NP_001280116.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AF201938, BC093014

Consensus CDS

CCDS33320.1

UniProtKB/Swiss-Prot

D3DPC9, Q9NRN9, Q9NVX1

UniProtKB/TrEMBL

B8ZZE3

Related

ENSP00000376415.2, ENST00000392640.6

Conserved Domains (1) summary

COG2263
Location:7 → 209

COG2263; Predicted RNA methylase [General function prediction only]
NM_014168.4 → NP_054887.2 rRNA N6-adenosine-methyltransferase METTL5

See identical proteins and their annotated locations for NP_054887.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AL523293, BC000921, CA337169

Consensus CDS

CCDS33320.1

UniProtKB/Swiss-Prot

D3DPC9, Q9NRN9, Q9NVX1

UniProtKB/TrEMBL

B8ZZE3

Related

ENSP00000260953.5, ENST00000260953.10

Conserved Domains (1) summary

COG2263
Location:7 → 209

COG2263; Predicted RNA methylase [General function prediction only]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

169811757..169824905 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444015.1 → XP_047299971.1 rRNA N6-adenosine-methyltransferase METTL5 isoform X1

Related

ENSP00000307903.3, ENST00000308099.7
XM_011511023.2 → XP_011509325.1 rRNA N6-adenosine-methyltransferase METTL5 isoform X1

See identical proteins and their annotated locations for XP_011509325.1

UniProtKB/TrEMBL

B8ZZE3

Conserved Domains (1) summary

COG2263
Location:7 → 163

COG2263; Predicted RNA methylase [General function prediction only]

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

170289301..170302459 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341534.1 → XP_054197509.1 rRNA N6-adenosine-methyltransferase METTL5 isoform X1
XM_054341533.1 → XP_054197508.1 rRNA N6-adenosine-methyltransferase METTL5 isoform X1