1. Gene
  2. METTL1 - methyltransferase 1, tRNA methylguanosine Gene

METTL1 - methyltransferase 1, tRNA methylguanosine Gene

Homo sapiens

Also known as TRM8; TRMT8; C12orf1; YDL201w

Gene ID: 4234 | Gene type: protein coding

About METTL1

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,768,471-57,772,105 (from NCBI)

This gene has 8 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in kidney (RPKM 7.6), thyroid (RPKM 7.3) and 25 other tissues.

Summary

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]

METTL1 Products(2)

mRNA Protein Name
NM_005371.6 NP_005362.3 tRNA (guanine-N(7)-)-methyltransferase isoform a
NM_023033.4 NP_075422.3 tRNA (guanine-N(7)-)-methyltransferase isoform c
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables internal mRNA (guanine-N7-)-methyltransferase activity IDA
IDA: Inferred from direct assay
31031084 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15861136 GOA
enables tRNA (guanine(46)-N7)-methyltransferase activity IDA
IDA: Inferred from direct assay
12403464 GOA
Biological Process GO Annotation Evidence Reference Source
involved in RNA (guanine-N7)-methylation IDA
IDA: Inferred from direct assay
37379838 GOA
involved in cellular response to stress IDA
IDA: Inferred from direct assay
37379838 GOA
involved in tRNA (guanine-N7)-methylation IDA
IDA: Inferred from direct assay
36599982 GOA
involved in tRNA modification IDA
IDA: Inferred from direct assay
12403464 GOA
involved in tRNA stabilization IDA
IDA: Inferred from direct assay
36599982 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
15861136 GOA
part of tRNA (m7G46) methyltransferase complex IDA
IDA: Inferred from direct assay
36599982 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

METTL1 Protein Structure

Methyltransf_4

Methyltransf_4: Putative methyltransferase (55 - 258)

  • 0
  • 100
  • 200
  • 276 a.a.
Protein Preferred Names Protein Names

tRNA (guanine-N(7)-)-methyltransferase

D1075-like gene product

METTL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Y2H Array
32296183
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Y2H Pooling
16189514
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Y2H Array
31515488
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Anti Tag CoIP
33961781
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Validated Y2H
25416956
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant METTL1 Proteins

Cat. No. Product Name Accession Purity
HY-P75926 METTL1 Protein, Human (His) Q9UBP6-1/NP_005362.3 (D32-Q265) ≥95%

Related Diseases

Diseases Alias
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus METTL1 MGD MGI:1339986
Bos taurus METTL1 VGNC VGNC:31400
Rattus norvegicus METTL1 RGD RGD:1593036
Macaca mulatta METTL1 VGNC VGNC:100078
Canis familiaris METTL1 VGNC VGNC:43169
Others METTL1 NCBI