METTL1 - methyltransferase 1, tRNA methylguanosine Gene

Also Known as TRM8; TRMT8; C12orf1; YDL201w

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4234

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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 References
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 32296183
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 16189514
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 31515488
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 33961781
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 25416956
Intra
METTL1 Q9UBP6 WDR4 Homo sapiens P57081 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant METTL1 Proteins

Cat. No. 상품명 Accession Purity
HY-P75926 METTL1 Protein, Human (His) Q9UBP6-1/NP_005362.3 (D32-Q265) ≥ 95%, as determined by reducing SDS-PAGE.

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