METTL17 methyltransferase like 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: METTL17provided by HGNC
Official Full Name: methyltransferase like 17provided by HGNC
Primary source: HGNC:HGNC:19280
See related: Ensembl:ENSG00000165792 MIM:616091; AllianceGenome:HGNC:19280
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: METT11D1
Summary: Predicted to enable S-adenosyl-L-methionine binding activity and mitochondrial ribosome binding activity. Predicted to be involved in ribosomal small subunit biogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum (RPKM 22.3), lymph node (RPKM 19.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (20989980..20997035)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (15182526..15194435)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21458139..21465194)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

METTL17 coordinates ferroptosis and tumorigenesis by regulating mitochondrial translation in colorectal cancer.
Title: METTL17 coordinates ferroptosis and tumorigenesis by regulating mitochondrial translation in colorectal cancer.
efects of mitochondrial ribosome caused by deletion of Mettl17 lead to the impaired translation of mitochondrial protein-coding genes, resulting in significant changes in mitochondrial oxidative phosphorylation and cellular metabolome, which are important for mESC pluripotency
Title: Mettl17, a regulator of mitochondrial ribosomal RNA modifications, is required for the translation of mitochondrial coding genes.
METTL17 is a novel coactivator of estrogen receptors and may play a role in breast tumorigenesis.
Title: Methyltransferase-like 17 physically and functionally interacts with estrogen receptors.
METT11D1 mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies.
Title: Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Possible component of the small subunit of the mitochondrial ribosome, has similarity to yeast Rsm22 (Ykl155c) mitochondrial ribosomal protein.
Title: Identification of 12 new yeast mitochondrial ribosomal proteins including 6 that have no prokaryotic homologues.

Submit: New GeneRIF Correction

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

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

D6S1417 (e-PCR)
- UniSTS:60006

RH25166 (e-PCR)
- UniSTS:87655

SHGC-24064 (e-PCR)
- UniSTS:52728

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IDA Inferred from Direct Assay more info	PubMed
enables S-adenosyl-L-methionine binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
NOT enables methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial small ribosomal subunit assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in ribosomal small subunit biogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: methyltransferase-like protein 17, mitochondrial

Names: false p73 target gene protein; methyltransferase 11 domain containing 1; methyltransferase 11 domain-containing protein 1; protein RSM22 homolog, mitochondrial

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_001029991.2 → NP_001025162.1 methyltransferase-like protein 17, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_001025162.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer protein (isoform 1).

Source sequence(s)

AK024512, AL355922

Consensus CDS

CCDS41913.1

UniProtKB/TrEMBL

A0A0S2Z5V5

Related

ENSP00000372445.4, ENST00000382985.8

Conserved Domains (2) summary

COG0500
Location:191 → 297

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

cl17173
Location:155 → 421

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_022734.3 → NP_073571.1 methyltransferase-like protein 17, mitochondrial isoform 2 precursor

See identical proteins and their annotated locations for NP_073571.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK024512, AL355922, BC005053

Consensus CDS

CCDS9562.1

UniProtKB/Swiss-Prot

Q9BSH1, Q9BZH2, Q9BZH3, Q9H7H0

UniProtKB/TrEMBL

A0A0S2Z5L8, A0A0S2Z5V5

Related

ENSP00000343041.6, ENST00000339374.11

Conserved Domains (2) summary

COG0500
Location:191 → 297

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

cl17173
Location:155 → 438

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). ...

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

20989980..20997035

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

15182526..15194435

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376618.1 → XP_054232593.1 methyltransferase-like protein 17, mitochondrial isoform X1
XM_054376619.1 → XP_054232594.1 methyltransferase-like protein 17, mitochondrial isoform X2
XM_054376620.1 → XP_054232595.1 methyltransferase-like protein 17, mitochondrial isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001029992.1: Suppressed sequence

Description

NM_001029992.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.