Free for academic non-profit institutions. Other users need a Commercial license

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

Summaries for CMTR1 Gene

GeneCards Summary for CMTR1 Gene

CMTR1 (Cap Methyltransferase 1) is a Protein Coding gene. 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.

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

Regulatory Elements for CMTR1 Gene

Enhancers for CMTR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G037559 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.7 +129.8 129831 7.9 HDGF ZNF493 ZNF2 ZNF121 ZNF302 ZNF143 FOS ZNF202 NFYC REST CMTR1 CCDC167 LINC02520 MDGA1 TMEM217 ENSG00000279942 MIR4462
GH06G036592 3 FANTOM5 Ensembl ENCODE dbSUPER 11 -835.7 -835713 10.7 MLX CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 KCTD20 CDKN1A RAB44 STK38 TBC1D22B ETV7 LAP3P2 ENSG00000251864 ENSG00000237719 CMTR1
GH06G036983 1.4 ENCODE dbSUPER 21.1 -447.4 -447391 3.8 MLX CREB3L1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 MEF2D ZNF610 CMTR1 TBC1D22B MTCH1 PI16
GH06G037124 2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -304.6 -304645 8.6 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT ARID4B DMAP1 FEZF1 ZNF2 CMTR1 PIM1 COX6A1P2 FGD2 MTCH1 C6orf89 RAB44 MDGA1 PPIL1 GC06P041050
GH06G037201 1.5 ENCODE dbSUPER 14.4 -229.5 -229541 3.6 CREB3L1 MLX ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 TBC1D22B CDKN1A CMTR1 PIM1 RAB44 COX6A1P2 PIR49359
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CMTR1 on UCSC Golden Path with GeneCards custom track

Promoters for CMTR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000196395 269 1601 HDGF HNRNPUL1 ARNT CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for CMTR1 Gene

Chromosome:
6
Start:
37,433,131 bp from pter
End:
37,482,827 bp from pter
Size:
49,697 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for CMTR1 Gene

Proteins for CMTR1 Gene

  • 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

Post-translational modifications for CMTR1 Gene

  • Ubiquitination at posLast=487487, posLast=608608, posLast=777777, and Lys823
  • Modification sites at PhosphoSitePlus

Other Protein References for CMTR1 Gene

No data available for DME Specific Peptides for CMTR1 Gene

Domains & Families for CMTR1 Gene

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

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

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

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

Animal Model Products

CRISPR Products

miRNA for CMTR1 Gene

Inhibitory RNA Products

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

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

Gene Ontology (GO) - Cellular Components for CMTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 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

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

(2) Drugs for CMTR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with CMTR1: view

Transcripts for CMTR1 Gene

CRISPR Products

Inhibitory RNA Products

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

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

Primer Products

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 35
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia CMTR1 35
  • 97 (a)
OneToOne
FTSJD2 34
  • 92.38 (n)
cow
(Bos Taurus)
Mammalia FTSJD2 35
  • 95 (a)
OneToOne
CMTR1 34
  • 91.26 (n)
mouse
(Mus musculus)
Mammalia Cmtr1 34 16 35
  • 87.3 (n)
rat
(Rattus norvegicus)
Mammalia Cmtr1 34
  • 86.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CMTR1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMTR1 35
  • 84 (a)
OneToOne
FTSJD2 34
  • 76.72 (n)
lizard
(Anolis carolinensis)
Reptilia CMTR1 35
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7896 34
zebrafish
(Danio rerio)
Actinopterygii cmtr1 34 35
  • 67.44 (n)
zgc55336 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000826 34
  • 52.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6379 34 35
  • 50 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.13 34
  • 51.75 (n)
Y53F4B.13 35
  • 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

Sequence variations from dbSNP and Humsavar for CMTR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000016115 -- 37,445,033(+) AAAAT(-/AAAA)AAAAA intron-variant
rs1000029913 -- 37,439,588(+) ATCGG(C/T)ATCTG intron-variant
rs1000057560 -- 37,445,712(+) ATGGT(C/G)TCTAT intron-variant
rs1000116659 -- 37,452,332(+) ATGAA(A/G)TAGTG intron-variant
rs1000156841 -- 37,483,137(+) TCCTG(A/T)TCAAG downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for CMTR1 Gene

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

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

Disorders for CMTR1 Gene

Relevant External Links for CMTR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMTR1

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) Belanger F. … Pelletier J. (J. Biol. Chem. 2010) 2 3 4 64
  2. Structural analysis of human 2'-O-ribose methyltransferases involved in mRNA cap structure formation. (PMID: 24402442) Smietanski M. … Bujnicki J.M. (Nat Commun 2014) 3 4 64
  3. 2'-O-ribose methylation of cap2 in human: function and evolution in a horizontally mobile family. (PMID: 21310715) Werner M. … Bujnicki J.M. (Nucleic Acids Res. 2011) 3 4 64
  4. The human interferon-regulated ISG95 protein interacts with RNA polymerase II and shows methyltransferase activity. (PMID: 18533109) Haline-Vaz T. … Zanchin N.I.T. (Biochem. Biophys. Res. Commun. 2008) 3 4 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for CMTR1 Gene

Sources for CMTR1 Gene

Content
Loading form....