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

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

Recombinant METTL1 Proteins

Cat. No. Product Name Accession Purity
HY-P75926 METTL1 Protein, Human (His) Q9UBP6 (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