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METTL17 methyltransferase like 17 [ Homo sapiens (human) ]

Gene ID: 64745, updated on 2-Nov-2024

Summary

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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
Enables 4 iron, 4 sulfur cluster binding activity. Involved in mitochondrial small ribosomal subunit assembly. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in duodenum (RPKM 22.3), lymph node (RPKM 19.6) and 25 other tissues See more
Orthologs
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Genomic context

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See METTL17 in Genome Data Viewer
Location:
14q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20989980..20997035)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (15182526..15194435)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21458139..21465194)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 189, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21439271-21439960 Neighboring gene coiled-coil domain containing 107 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8098 Neighboring gene uncharacterized LOC101929718 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:21464288-21465487 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21467511-21468710 Neighboring gene solute carrier family 39 member 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21487674-21488873 Neighboring gene NDRG family member 2 Neighboring gene microRNA 6717

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  6. 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

Homology

Clone Names

  • FLJ20859

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 mitochondrion HTP PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ribosome assembly protein METTL17, mitochondrial
Names
false p73 target gene protein
methyltransferase 11 domain containing 1
methyltransferase 11 domain-containing protein 1
methyltransferase-like protein 17, mitochondrial
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)

  1. NM_001029991.2 → NP_001025162.1  ribosome assembly protein METTL17, 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). ...

  2. NM_022734.3 → NP_073571.1  ribosome assembly protein METTL17, 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    20989980..20997035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    15182526..15194435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376618.1 → XP_054232593.1  ribosome assembly protein METTL17, mitochondrial isoform X1

  2. XM_054376619.1 → XP_054232594.1  ribosome assembly protein METTL17, mitochondrial isoform X2

  3. XM_054376620.1 → XP_054232595.1  ribosome assembly protein METTL17, mitochondrial isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001029992.1: Suppressed sequence

    Description
    NM_001029992.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H7H0.1 GenPept UniProtKB/Swiss-Prot:Q9H7H0

Gene LinkOut

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