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    METTL17 methyltransferase like 17 [ Homo sapiens (human) ]

    Gene ID: 64745, updated on 27-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
    • 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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    Related articles in PubMed

    1. Testing a Hypothesis of 12S rRNA Methylation by Putative METTL17 Methyltransferase. Mashkovskaia AV, et al. Acta Naturae, 2023 Oct-Dec. PMID 38234605, Free PMC Article
    2. METTL17 is an Fe-S cluster checkpoint for mitochondrial translation. Ast T, et al. Mol Cell, 2024 Jan 18. PMID 38199006, Free PMC Article
    3. METTL17 coordinates ferroptosis and tumorigenesis by regulating mitochondrial translation in colorectal cancer. Li H, et al. Redox Biol, 2024 May. PMID 38377789, Free PMC Article
    4. Principles of mitoribosomal small subunit assembly in eukaryotes. Harper NJ, et al. Nature, 2023 Feb. PMID 36482135, Free PMC Article
    5. Methyltransferase-like 17 physically and functionally interacts with estrogen receptors. Du P, et al. IUBMB Life, 2015 Nov. PMID 26488768

    See all (54) citations in PubMed

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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