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    CMTR1 cap methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 23070, updated on 5-May-2024

    Summary

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    Official Symbol
    CMTR1provided by HGNC
    Official Full Name
    cap methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:21077
    See related
    Ensembl:ENSG00000137200 MIM:616189; AllianceGenome:HGNC:21077
    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
    MTr1; hMTr1; FTSJD2; KIAA0082
    Summary
    Enables mRNA (nucleoside-2'-O-)-methyltransferase activity. Involved in 7-methylguanosine mRNA capping and cap1 mRNA methylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 31.1), spleen (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMTR1 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37423985..37481508)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37247428..37305049)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37400997..37449284)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24457 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:37335886-37337085 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7630 Neighboring gene ring finger protein 8 Neighboring gene uncharacterized LOC107986531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37400679-37401180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17140 Neighboring gene MPRA-validated peak5792 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:37427605-37428259 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:37448259-37448959 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37456899-37457744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24459 Neighboring gene coiled-coil domain containing 167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37480625-37481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37481227-37481828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37483099-37483883 Neighboring gene long intergenic non-protein coding RNA 2520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37483884-37484668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24462 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:37487335-37487506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24463

    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. CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3. You AB, et al. Cell Death Dis, 2023 Apr 6. PMID 37024465, Free PMC Article
    2. The mRNA Cap 2'-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes. Williams GD, et al. mSphere, 2020 May 13. PMID 32404510, Free PMC Article
    3. Regulation and function of CMTR1-dependent mRNA cap methylation. Inesta-Vaquera F, et al. Wiley Interdiscip Rev RNA, 2017 Nov. PMID 28971629, Free PMC Article
    4. The human interferon-regulated ISG95 protein interacts with RNA polymerase II and shows methyltransferase activity. Haline-Vaz T, et al. Biochem Biophys Res Commun, 2008 Aug 8. PMID 18533109
    5. Human RNA cap1 methyltransferase CMTr1 cooperates with RNA helicase DHX15 to modify RNAs with highly structured 5' termini. Toczydlowska-Socha D, et al. Philos Trans R Soc Lond B Biol Sci, 2018 Nov 5. PMID 30397098, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3.
      Title: CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3.
    2. The mRNA Cap 2'-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes.
      Title: The mRNA Cap 2'-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes.
    3. The data presented here are consistent with the important role played by hMTr1 in pre-mRNA synthesis.
      Title: Interactome analysis of the human Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 (hMTr1) protein.
    4. CMTr1 binds ATP-dependent RNA DHX15 helicase and that this interaction, mediated by the G-patch domain of CMTr1, has an advantageous effect on CMTr1 activity towards highly structured RNA substrates.
      Title: Human RNA cap1 methyltransferase CMTr1 cooperates with RNA helicase DHX15 to modify RNAs with highly structured 5' termini.
    5. Regulation and function of CMTR1-dependent mRNA cap methylation.
      Title: Regulation and function of CMTR1-dependent mRNA cap methylation.
    6. Crystal structures of the active CMTr1 catalytic domain in complex with a methyl group donor and a capped oligoribonucleotide are examined, thereby revealing the mechanism of specific recognition of capped RNA.
      Title: Structural analysis of human 2'-O-ribose methyltransferases involved in mRNA cap structure formation.
    7. hMTr1 catalyzes specific methylation of the 2'-O-ribose of the first nucleotide of a capped RNA transcript.
      Title: Characterization of hMTr1, a human Cap1 2'-O-ribose methyltransferase.
    8. The results presented in this work indicate that ISG95 is part of the interferon response pathway and functions in the pre-mRNA processing events mediated by the C-terminal domain of the RNA polymerase II.
      Title: The human interferon-regulated ISG95 protein interacts with RNA polymerase II and shows methyltransferase activity.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22156, KIAA0082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA (nucleoside-2'-O-)-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA (nucleoside-2'-O-)-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 7-methylguanosine mRNA capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 7-methylguanosine mRNA capping IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in 7-methylguanosine mRNA capping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1
    Names
    FtsJ methyltransferase domain containing 2
    ISG95
    S-adenosyl-L-methionine-dependent methyltransferase FTSJD2
    cap1 2'O-ribose methyltransferase 1
    ftsJ methyltransferase domain-containing protein 2
    interferon-stimulated gene 95 kDa protein
    NP_055865.1
    XP_047274418.1
    XP_047274419.1
    XP_054210779.1
    XP_054210780.1

    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)

    1. NM_015050.3 → NP_055865.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1

      See identical proteins and their annotated locations for NP_055865.1

      Status: VALIDATED

      Source sequence(s)
      BC010731, BC031890, DA508836
      Consensus CDS
      CCDS4835.1
      UniProtKB/Swiss-Prot
      A8K949, Q14670, Q8N1G2, Q96FJ9
      Related
      ENSP00000362550.4, ENST00000373451.9
      Conserved Domains (3) summary
      pfam01585
      Location:87 → 129
      G-patch; G-patch domain
      pfam01728
      Location:232 → 448
      FtsJ; FtsJ-like methyltransferase
      cl12015
      Location:625 → 716
      Adenylation_DNA_ligase_like; Adenylation domain of proteins similar to ATP-dependent polynucleotide ligases

    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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      37423985..37481508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418463.1 → XP_047274419.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K949, Q14670, Q8N1G2, Q96FJ9

    2. XM_047418462.1 → XP_047274418.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K949, Q14670, Q8N1G2, Q96FJ9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      37247428..37305049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354804.1 → XP_054210779.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K949, Q14670, Q8N1G2, Q96FJ9

    2. XM_054354805.1 → XP_054210780.1  cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K949, Q14670, Q8N1G2, Q96FJ9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1G2.1 GenPept UniProtKB/Swiss-Prot:Q8N1G2

    Gene LinkOut

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

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