This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008] See more...

Aliases for METTL1 Gene

Aliases for METTL1 Gene

  • Methyltransferase Like 1 2 3 5
  • TRNA (Guanine(46)-N(7))-Methyltransferase 3 4
  • MiRNA (Guanine-N(7)-)-Methyltransferase 3 4
  • TRNA (Guanine-N(7)-)-Methyltransferase 3 4
  • MRNA (Guanine-N(7)-)-Methyltransferase 3 4
  • Methyltransferase-Like Protein 1 3 4
  • TRNA(M7G46)-Methyltransferase 3 4
  • EC 2.1.1.33 4 51
  • C12orf1 3 4
  • TRMT8 2 3
  • TRM8 2 3
  • Methyltransferase-Like 1 2
  • D1075-Like Gene Product 3
  • EC 2.1.1.- 4
  • YDL201w 3
  • METTL1 5

External Ids for METTL1 Gene

Previous HGNC Symbols for METTL1 Gene

  • C12orf1

Previous GeneCards Identifiers for METTL1 Gene

  • GC12M057763
  • GC12M058305
  • GC12M057879
  • GC12M056448
  • GC12M058163
  • GC12M055199
  • GC12M058165
  • GC12M058170
  • GC12M058174

Summaries for METTL1 Gene

Entrez Gene Summary for METTL1 Gene

  • This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]

GeneCards Summary for METTL1 Gene

METTL1 (Methyltransferase Like 1) is a Protein Coding gene. Diseases associated with METTL1 include Thiamine-Responsive Megaloblastic Anemia Syndrome and Isolated Growth Hormone Deficiency, Type Ia. Among its related pathways are Gene Expression and MAPK Erk Pathway. Gene Ontology (GO) annotations related to this gene include tRNA binding and tRNA (guanine-N7-)-methyltransferase activity.

UniProtKB/Swiss-Prot Summary for METTL1 Gene

  • Methyltransferase that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031084, PubMed:31031083). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (PubMed:12403464, PubMed:31031084). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:31031084). Internal N(7)-methylguanine methylation of mRNAs regulates translation (PubMed:31031084). Also methylates a specific subset of miRNAs, such as let-7 (PubMed:31031083). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (PubMed:31031083). Acts as a regulator of embryonic stem cell self-renewal and differentiation (By similarity).

Gene Wiki entry for METTL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for METTL1 Gene

Genomics for METTL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for METTL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around METTL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for METTL1

Top Transcription factor binding sites by QIAGEN in the METTL1 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB

Genomic Locations for METTL1 Gene

Genomic Locations for METTL1 Gene
chr12:57,768,471-57,772,119
(GRCh38/hg38)
Size:
3,649 bases
Orientation:
Minus strand
chr12:58,162,254-58,166,576
(GRCh37/hg19)
Size:
4,323 bases
Orientation:
Minus strand

Genomic View for METTL1 Gene

Genes around METTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
METTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for METTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for METTL1 Gene

Proteins for METTL1 Gene

  • Protein details for METTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBP6-TRMB_HUMAN
    Recommended name:
    tRNA (guanine-N(7)-)-methyltransferase
    Protein Accession:
    Q9UBP6
    Secondary Accessions:
    • B2RBX1
    • H7BXF2
    • Q14105
    • Q53FS9

    Protein attributes for METTL1 Gene

    Size:
    276 amino acids
    Molecular mass:
    31471 Da
    Quaternary structure:
    • Forms a complex with WDR4.
    SequenceCaution:
    • Sequence=CAA65470.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for METTL1 Gene

    Alternative splice isoforms for METTL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for METTL1 Gene

Selected DME Specific Peptides for METTL1 Gene

Q9UBP6:
  • YRQRAHSNP
  • TEEGKKV
  • KMFFLFPDPHFK
  • KHKWRII
  • QNIACLR
  • PTLLAEY
  • EIRVKVSDYV
  • VEFADIGCG
  • RIISPTLL

Post-translational modifications for METTL1 Gene

  • Phosphorylation at Ser-27 inactivates its catalytic activity but does not affect the interaction with WDR4.
  • Ubiquitination at Lys250
  • Modification sites at PhosphoSitePlus

Domains & Families for METTL1 Gene

Gene Families for METTL1 Gene

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

Protein Domains for METTL1 Gene

InterPro:
Blocks:
  • Binding-protein-dependent transport systems inner membrane component
  • Putative methyltransferase
ProtoNet:

Suggested Antigen Peptide Sequences for METTL1 Gene

GenScript: Design optimal peptide antigens:
  • tRNA(m7G46)-methyltransferase (TRMB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBP6

UniProtKB/Swiss-Prot:

TRMB_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family.
genes like me logo Genes that share domains with METTL1: view

Function for METTL1 Gene

Molecular function for METTL1 Gene

UniProtKB/Swiss-Prot Function:
Methyltransferase that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031084, PubMed:31031083). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA (PubMed:12403464, PubMed:31031084). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:31031084). Internal N(7)-methylguanine methylation of mRNAs regulates translation (PubMed:31031084). Also methylates a specific subset of miRNAs, such as let-7 (PubMed:31031083). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (PubMed:31031083). Acts as a regulator of embryonic stem cell self-renewal and differentiation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=guanosine(46) in tRNA + S-adenosyl-L-methionine = N(7)-methylguanosine(46) in tRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42708, Rhea:RHEA-COMP:10188, Rhea:RHEA-COMP:10189, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; EC=2.1.1.33; Evidence={ECO:0000255|HAMAP-Rule:MF_03055};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a guanosine in mRNA + S-adenosyl-L-methionine = an N(7)-methylguanosine in mRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60508, Rhea:RHEA-COMP:15584, Rhea:RHEA-COMP:15585, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence={ECO:0000269|PubMed:31031084};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a guanosine in miRNA + S-adenosyl-L-methionine = an N(7)-methylguanosine in miRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60512, Rhea:RHEA-COMP:15587, Rhea:RHEA-COMP:15588, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence={ECO:0000269|PubMed:31031083};.
GENATLAS Biochemistry:
methyltransferase-like 1

Enzyme Numbers (IUBMB) for METTL1 Gene

Phenotypes From GWAS Catalog for METTL1 Gene

Gene Ontology (GO) - Molecular Function for METTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 15861136
GO:0008168 methyltransferase activity IEA --
GO:0008176 tRNA (guanine-N7-)-methyltransferase activity IEA,IDA 12403464
genes like me logo Genes that share ontologies with METTL1: view
genes like me logo Genes that share phenotypes with METTL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for METTL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for METTL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for METTL1 Gene

Localization for METTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for METTL1 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 METTL1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for METTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15861136
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
GO:0043527 tRNA methyltransferase complex IBA 21873635
genes like me logo Genes that share ontologies with METTL1: view

Pathways & Interactions for METTL1 Gene

genes like me logo Genes that share pathways with METTL1: view

Pathways by source for METTL1 Gene

1 Sino Biological pathway for METTL1 Gene

UniProtKB/Swiss-Prot Q9UBP6-TRMB_HUMAN

  • Pathway: tRNA modification; N(7)-methylguanine-tRNA biosynthesis.

SIGNOR curated interactions for METTL1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for METTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IEA,IDA 12403464
GO:0008033 tRNA processing IEA --
GO:0030488 tRNA methylation IEA,IBA 21873635
GO:0032259 methylation IEA --
GO:0036265 RNA (guanine-N7)-methylation IBA 21873635
genes like me logo Genes that share ontologies with METTL1: view

Drugs & Compounds for METTL1 Gene

(1) Drugs for METTL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for METTL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with METTL1: view

Transcripts for METTL1 Gene

mRNA/cDNA for METTL1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for METTL1

Alternative Splicing Database (ASD) splice patterns (SP) for METTL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: -
SP6: -

Relevant External Links for METTL1 Gene

GeneLoc Exon Structure for
METTL1

Expression for METTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for METTL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for METTL1 Gene

This gene is overexpressed in Lung (11.9), Lymph node (10.4), and Islet of Langerhans (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for METTL1 Gene



Protein tissue co-expression partners for METTL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for METTL1

SOURCE GeneReport for Unigene cluster for METTL1 Gene:

Hs.42957

mRNA Expression by UniProt/SwissProt for METTL1 Gene:

Q9UBP6-TRMB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for METTL1 Gene

  • Kidney(4.4)
  • Nervous system(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with METTL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for METTL1 Gene

Orthologs for METTL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for METTL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia METTL1 30 31
  • 99.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia METTL1 30 31
  • 91.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia METTL1 30 31
  • 90.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mettl1 30
  • 87.77 (n)
Mouse
(Mus musculus)
Mammalia Mettl1 30 17 31
  • 86.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia METTL1 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia METTL1 31
  • 74 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia METTL1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mettl1 30
  • 67.05 (n)
Str.11051 30
Zebrafish
(Danio rerio)
Actinopterygii mettl1 30 31
  • 70.51 (n)
OneToOne
Dr.28333 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4045 30 31
  • 64.1 (n)
OneToOne
EG:22E5.4 32
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta TRMB_ANOGA 30
  • 60.12 (n)
Worm
(Caenorhabditis elegans)
Secernentea W02B12.10 30 31 32
  • 63.19 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR192C 30
  • 61.43 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03245g 30
  • 57.69 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM8 30 31 33
  • 57.16 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G24840 30
  • 59.28 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0236900 30
  • 62.87 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5350 31
  • 60 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU03936 30
  • 59.65 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trm8 30
  • 56.82 (n)
Species where no ortholog for METTL1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for METTL1 Gene

ENSEMBL:
Gene Tree for METTL1 (if available)
TreeFam:
Gene Tree for METTL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for METTL1: view image

Paralogs for METTL1 Gene

Pseudogenes.org Pseudogenes for METTL1 Gene

genes like me logo Genes that share paralogs with METTL1: view

No data available for Paralogs for METTL1 Gene

Variants for METTL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for METTL1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs863223376 Uncertain Significance: Abnormality of neuronal migration 57,769,596(-) A/G MISSENSE_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for METTL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for METTL1 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559045 CNV loss 21841781
nsv559046 CNV gain 21841781

Variation tolerance for METTL1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for METTL1 Gene

Human Gene Mutation Database (HGMD)
METTL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
METTL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for METTL1 Gene

Disorders for METTL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for METTL1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for METTL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with METTL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for METTL1 Gene

Publications for METTL1 Gene

  1. Molecular analysis of METTL1, a novel human methyltransferase-like gene with a high degree of phylogenetic conservation. (PMID: 10329009) Bahr A … Schmidt ER (Genomics 1999) 2 3 4 23
  2. The tRNA methylase METTL1 is phosphorylated and inactivated by PKB and RSK in vitro and in cells. (PMID: 15861136) Cartlidge RA … Cohen P (The EMBO journal 2005) 2 3 4
  3. Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA. (PMID: 12403464) Alexandrov A … Phizicky EM (RNA (New York, N.Y.) 2002) 3 4 23
  4. Transcriptome-wide Mapping of Internal N7-Methylguanosine Methylome in Mammalian mRNA. (PMID: 31031084) Zhang LS … He C (Molecular cell 2019) 3 4
  5. METTL1 Promotes let-7 MicroRNA Processing via m7G Methylation. (PMID: 31031083) Pandolfini L … Kouzarides T (Molecular cell 2019) 3 4

Products for METTL1 Gene

  • Signalway Proteins for METTL1

Sources for METTL1 Gene