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CMTR1 Gene(Protein Coding)

Cap Methyltransferase 1

GCID:
GC06P041255
GIFtS:
40
Genes Participants
UDN Logo

Aliases for CMTR1 Gene

Aliases for CMTR1 Gene

  • Cap Methyltransferase 1 2 3 4 5
  • KIAA0082 2 3 4
  • FtsJ Methyltransferase Domain-Containing Protein 2 3 4
  • FtsJ Methyltransferase Domain Containing 2 2 3
  • Interferon-Stimulated Gene 95 KDa Protein 3 4
  • Cap1 2O-Ribose Methyltransferase 1 3 4
  • FTSJD2 3 4
  • ISG95 3 4
  • HMTr1 3 4
  • MTr1 3 4
  • S-Adenosyl-L-Methionine-Dependent Methyltransferase FTSJD2 3
  • Cap-Specific MRNA (Nucleoside-2-O-)-Methyltransferase 1 3
  • EC 2.1.1.57 4

External Ids for CMTR1 Gene

Previous HGNC Symbols for CMTR1 Gene

  • KIAA0082
  • FTSJD2

Previous GeneCards Identifiers for CMTR1 Gene

  • GC06P037401
  • GC06P037506
  • GC06P037465
  • GC06P037864
  • GC06P037870
  • GC06P038432
  • GC06P039023
  • GC06P039610
  • GC06P040171

Summaries for CMTR1 Gene

GeneCards Summary for CMTR1 Gene

CMTR1 (Cap Methyltransferase 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA (nucleoside-2-O-)-methyltransferase activity. An important paralog of this gene is CMTR2.

UniProtKB/Swiss-Prot for CMTR1 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2-O-ribose methylation to the 5-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.

Additional gene information for CMTR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMTR1 Gene

Genomics for CMTR1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CMTR1 Gene

Promoters and enhancers for CMTR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I037432 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.4 412 2.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 CMTR1 LINC02520 FGD2 RNF8 CCDC167
GH06I036675 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 54.7 -752.3 -752282 10.4 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 CDKN1A SRSF3 CMTR1 STK38 MAPK14 ENSG00000237719 RNF8 RNU1-88P C6orf89 ARMC12
GH06I036983 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 47.5 -447.4 -447391 3.8 CLOCK MLX DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 ZNF610 GLIS1 MTCH1 CMTR1 SRSF3 TBC1D22B BRPF3 ENSG00000237719 RNF8 MAPK14 PI16
GH06I037256 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.4 -174.2 -174211 3.9 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 TMEM217 TBC1D22B CMTR1 SRSF3 RNF8 GC06P042411
GH06I037168 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 27.1 -259.9 -259938 10.2 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 PIM1 SRSF3 CMTR1 BRPF3 STK38 COX6A1P2 FGD2 MTCH1 TBC1D22B PIR49359
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CMTR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CMTR1 Gene

Genomic Locations for CMTR1 Gene
chr6:37,433,131-37,482,827
(GRCh38/hg38)
Size:
49,697 bases
Orientation:
Plus strand
chr6:37,400,907-37,450,603
(GRCh37/hg19)

Genomic View for CMTR1 Gene

Genes around CMTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMTR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CMTR1 Gene

Proteins for CMTR1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CMTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1G2-CMTR1_HUMAN
    Recommended name:
    Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1
    Protein Accession:
    Q8N1G2
    Secondary Accessions:
    • A8K949
    • Q14670
    • Q96FJ9

    Protein attributes for CMTR1 Gene

    Size:
    835 amino acids
    Molecular mass:
    95321 Da
    Quaternary structure:
    • Interacts with POLR2A (via C-terminus).
    SequenceCaution:
    • Sequence=BAA07893.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CMTR1 Gene

neXtProt entry for CMTR1 Gene

Protein Expression for CMTR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CMTR1 Gene

  • Ubiquitination at Lys487, Lys608, posLast=777777, and posLast=823823
  • Modification sites at PhosphoSitePlus

Other Protein References for CMTR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMTR1 Gene

Domains & Families for CMTR1 Gene

Gene Families for CMTR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CMTR1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CMTR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CMTR1: view

No data available for UniProtKB/Swiss-Prot for CMTR1 Gene

Function for CMTR1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CMTR1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + a 5-(N(7)-methyl 5-triphosphoguanosine)-(purine-ribonucleotide)-[mRNA] = S-adenosyl-L-homocysteine + a 5-(N(7)-methyl 5-triphosphoguanosine)-(2-O-methyl-purine-ribonucleotide)-[mRNA].
UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2-O-ribose methylation to the 5-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.
UniProtKB/Swiss-Prot Induction:
By interferons alpha and beta, and by Vaccinia virus infection.

Enzyme Numbers (IUBMB) for CMTR1 Gene

Phenotypes From GWAS Catalog for CMTR1 Gene

Gene Ontology (GO) - Molecular Function for CMTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004483 mRNA (nucleoside-2-O-)-methyltransferase activity IDA,IEA 20713356
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CMTR1: view

Phenotypes for CMTR1 Gene

GenomeRNAi human phenotypes for CMTR1:
genes like me logo Genes that share phenotypes with CMTR1: view

Animal Model Products

miRNA for CMTR1 Gene

miRTarBase miRNAs that target CMTR1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMTR1 Gene

Localization for CMTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMTR1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMTR1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CMTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21310715
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CMTR1: view

Pathways & Interactions for CMTR1 Gene

SuperPathways for CMTR1 Gene

PathCards logo More details on SuperPathways for CMTR1
No Data Available

Gene Ontology (GO) - Biological Process for CMTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006370 7-methylguanosine mRNA capping IEA,IMP 20713356
GO:0006397 mRNA processing IEA --
GO:0032259 methylation IEA --
GO:0080009 mRNA methylation IEA,IDA 20713356
GO:0097309 cap1 mRNA methylation IDA 21310715
genes like me logo Genes that share ontologies with CMTR1: view

No data available for Pathways by source and SIGNOR curated interactions for CMTR1 Gene

Drugs & Compounds for CMTR1 Gene

Products:

  1. Drug

(2) Drugs for CMTR1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ademetionine Approved, Investigational Nutra Target 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for CMTR1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
 29908-03-0
genes like me logo Genes that share compounds with CMTR1: view

Transcripts for CMTR1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CMTR1 Gene

(2) REFSEQ mRNAs :
(304) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CMTR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:

ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27
SP1: - -
SP2:
SP3:
SP4: - -
SP5:
SP6: - - -
SP7:
SP8:
SP9:

Relevant External Links for CMTR1 Gene

GeneLoc Exon Structure for
CMTR1
ECgene alternative splicing isoforms for
CMTR1

Expression for CMTR1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CMTR1 Gene

mRNA expression in normal human tissues for CMTR1 Gene
mRNA expression by BioGPS for CMTR1 GenemRNA expression by GTEx for CMTR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CMTR1 Gene

This gene is overexpressed in Testis (20.6), Breast (13.9), and Lymph node (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMTR1 Gene



Protein tissue co-expression partners for CMTR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CMTR1 Gene:

CMTR1

Evidence on tissue expression from TISSUES for CMTR1 Gene

  • Nervous system(4.8)
  • Eye(4.7)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with CMTR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMTR1 Gene

Orthologs for CMTR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CMTR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FTSJD2 34 33
  • 99.84 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CMTR1 34
  • 97 (a)
 OneToOne
FTSJD2 33
  • 92.38 (n)
cow
(Bos Taurus)
 Mammalia FTSJD2 34
  • 95 (a)
 OneToOne
CMTR1 33
  • 91.26 (n)
mouse
(Mus musculus)
 Mammalia Cmtr1 33 16 34
  • 87.3 (n)
rat
(Rattus norvegicus)
 Mammalia Cmtr1 33
  • 86.66 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CMTR1 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CMTR1 34
  • 84 (a)
 OneToOne
FTSJD2 33
  • 76.72 (n)
lizard
(Anolis carolinensis)
 Reptilia CMTR1 34
  • 81 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7896 33
zebrafish
(Danio rerio)
 Actinopterygii cmtr1 33 34
  • 67.44 (n)
zgc55336 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000826 33
  • 52.41 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG6379 33 34
  • 50 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_Y53F4B.13 33
  • 51.75 (n)
Y53F4B.13 34
  • 31 (a)
 OneToOne
Species where no ortholog for CMTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CMTR1 Gene

ENSEMBL:
Gene Tree for CMTR1 (if available)
TreeFam:
Gene Tree for CMTR1 (if available)

Paralogs for CMTR1 Gene

Paralogs for CMTR1 Gene

(1) SIMAP similar genes for CMTR1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CMTR1: view

Variants for CMTR1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CMTR1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000029913 -- 37,439,588(+) T/C intron_variant
rs1000057560 -- 37,445,712(+) C/G intron_variant
rs1000116659 -- 37,452,332(+) A/G intron_variant
rs1000156841 -- 37,483,137(+) A/T downstream_transcript_variant
rs1000185325 -- 37,439,810(+) T/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CMTR1 Gene

Variant ID Type Subtype PubMed ID
esv2752124 CNV gain 17911159
nsv1015689 CNV gain 25217958

Variation tolerance for CMTR1 Gene

Residual Variation Intolerance Score: 4.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CMTR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMTR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMTR1 Gene

Disorders for CMTR1 Gene

Additional Disease Information for CMTR1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CMTR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CMTR1 Gene

Publications for CMTR1 Gene

  1. Characterization of hMTr1, a human Cap1 2'-O-ribose methyltransferase. (PMID: 20713356) Bélanger F … Pelletier J (The Journal of biological chemistry 2010) 2 3 4 58
  2. Structural analysis of human 2'-O-ribose methyltransferases involved in mRNA cap structure formation. (PMID: 24402442) Smietanski M … Bujnicki JM (Nature communications 2014) 3 4 58
  3. 2'-O-ribose methylation of cap2 in human: function and evolution in a horizontally mobile family. (PMID: 21310715) Werner M … Bujnicki JM (Nucleic acids research 2011) 3 4 58
  4. The human interferon-regulated ISG95 protein interacts with RNA polymerase II and shows methyltransferase activity. (PMID: 18533109) Haline-Vaz T … Zanchin NI (Biochemical and biophysical research communications 2008) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for CMTR1 Gene

Sources for CMTR1 Gene