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Aliases for METTL1 Gene

Aliases for METTL1 Gene

  • Methyltransferase Like 1 2 3 5
  • TRNA (Guanine(46)-N(7))-Methyltransferase 3 4
  • Methyltransferase-Like Protein 1 3 4
  • TRNA(M7G46)-Methyltransferase 3 4
  • EC 2.1.1.33 4 58
  • C12orf1 3 4
  • TRNA (Guanine-N(7)-)-Methyltransferase 3
  • Methyltransferase-Like 1 2
  • D1075-Like Gene Product 3
  • YDL201w 3
  • TRMT8 3
  • TRM8 3

External Ids for METTL1 Gene

Previous HGNC Symbols for METTL1 Gene

  • C12orf1

Previous GeneCards Identifiers for METTL1 Gene

  • 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 Growth Hormone Deficiency, Isolated, Type Ia. Among its related pathways are MAPK-Erk Pathway and Gene Expression. GO annotations related to this gene include tRNA binding and tRNA (guanine-N7-)-methyltransferase activity.

UniProtKB/Swiss-Prot for METTL1 Gene

  • Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA.

Gene Wiki entry for METTL1 Gene

Additional gene information for METTL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for METTL1 Gene

Genomics for METTL1 Gene

Regulatory Elements for METTL1 Gene

Enhancers for METTL1 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
GH12H057830 2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -66.7 -66687 17 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B EEF1AKMT3 TSFM ATP23 METTL1 CTDSP2 TSPAN31 CDK4 AGAP2 LOC283387 PIR34053
GH12H057863 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -92.1 -92126 2 ATF1 SIN3A GLIS2 ATF7 DEK SP3 REST SMARCB1 SMARCA4 GLIS1 EEF1AKMT3 MIR26A2 CDK4 AVIL RNU6-1083P TSFM METTL1 CYP27B1 MARCH9 CTDSP2
GH12H057905 1.6 Ensembl ENCODE dbSUPER 10.4 -132.8 -132837 0 ARID4B SIN3A ZNF2 YY1 ZNF143 DEK MXD4 ZC3H11A REST ZNF592 ATP23 MIR26A2 RNU6-1083P CTDSP2 AVIL TSFM CYP27B1 METTL1 EEF1AKMT3 CDK4
GH12H057868 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -96.6 -96574 2 PKNOX1 POLR2A SCRT2 KLF17 FOXP2 ZBTB8A EEF1AKMT3 AVIL CTDSP2 MIR26A2 TSFM METTL1 CYP27B1 RNU6-1083P CDK4 MARCH9
GH12H057743 1.1 ENCODE 11.8 +27.7 27672 2 HDGF PKNOX1 ARNT SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 FOS TSFM ATP23 ZBTB39 PRIM1 CYP27B1 METTL1 EEF1AKMT3 CDK4 NEMP1 MIR616
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around METTL1 on UCSC Golden Path with GeneCards custom track

Promoters for METTL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052703 293 2201 HDGF MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for METTL1 Gene

Chromosome:
12
Start:
57,768,471 bp from pter
End:
57,772,793 bp from pter
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

Suggested Antigen Peptide Sequences for METTL1 Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
methyltransferase-like 1
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + guanine(46) in tRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine(46) in tRNA.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA.

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 contributes_to tRNA (guanine-N7-)-methyltransferase activity IDA,IEA 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

Clone Products

  • Applied Biological Materials Clones for METTL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 --
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:0032259 methylation IEA --
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
  • 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 METTL1: view

Transcripts for METTL1 Gene

Unigene Clusters for METTL1 Gene

Methyltransferase like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for METTL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
METTL1

Expression for METTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for METTL1 Gene



Protein tissue co-expression partners for METTL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of METTL1 Gene:

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(4.2)
  • Liver(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with METTL1: view

Primer Products

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 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia METTL1 33 34
  • 91.27 (n)
dog
(Canis familiaris)
Mammalia METTL1 33 34
  • 90.22 (n)
rat
(Rattus norvegicus)
Mammalia Mettl1 33
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Mettl1 33 16 34
  • 86.89 (n)
oppossum
(Monodelphis domestica)
Mammalia METTL1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia METTL1 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia METTL1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mettl1 33
  • 67.05 (n)
Str.11051 33
zebrafish
(Danio rerio)
Actinopterygii mettl1 33 34
  • 70.51 (n)
Dr.28333 33
fruit fly
(Drosophila melanogaster)
Insecta CG4045 33 34
  • 64.1 (n)
EG:22E5.4 35
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta TRMB_ANOGA 33
  • 60.12 (n)
worm
(Caenorhabditis elegans)
Secernentea W02B12.10 35 33 34
  • 63.19 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR192C 33
  • 61.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03245g 33
  • 57.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRM8 33 34 36
  • 57.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G24840 33
  • 59.28 (n)
rice
(Oryza sativa)
Liliopsida Os06g0236900 33
  • 62.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5350 34
  • 60 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03936 33
  • 59.65 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trm8 33
  • 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 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)

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 from dbSNP and Humsavar for METTL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs863223376 Uncertain significance 57,769,596(-) CCTGC(C/T)AGCAG reference, synonymous-codon, missense
rs1001780691 -- 57,768,566(+) TGAGA(A/G)ATGGC downstream-variant-500B, upstream-variant-2KB
rs1003559139 -- 57,774,064(+) CAAAT(C/T)ATAAT intron-variant, upstream-variant-2KB
rs1005442990 -- 57,770,321(+) GGAAC(-/TTAT)TTATT intron-variant
rs1005912480 -- 57,771,561(+) TCCCG(A/C)GACTG intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

(1) MalaCards diseases for METTL1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency type ia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for METTL1

Genetic Association Database (GAD)
METTL1
Human Genome Epidemiology (HuGE) Navigator
METTL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
METTL1
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 22 60
  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 60
  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 22 60
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for METTL1 Gene

Sources for METTL1 Gene

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