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CMTR1 cap methyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 23070, updated on 2-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
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Genomic context

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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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