METTL5 - methyltransferase 5, N6-adenosine Gene

Homo sapiens

Also known as MRT72; HSPC133

Gene ID: 29081 | Gene type: protein coding

About METTL5

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:169,811,757-169,824,905 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues.

Summary

Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6-)-methyltransferase activity. Involved in positive regulation of translation and rRNA methylation. Located in nucleus; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder-72. [provided by Alliance of Genome Resources, Apr 2022]

METTL5 Products(3)

mRNA	Protein	Name
NM_001293186.2	NP_001280115.1	rRNA N6-adenosine-methyltransferase METTL5
NM_001293187.2	NP_001280116.1	rRNA N6-adenosine-methyltransferase METTL5
NM_014168.4	NP_054887.2	rRNA N6-adenosine-methyltransferase METTL5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables S-adenosyl-L-methionine binding	IDA IDA: Inferred from direct assay	31328227	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	31328227	GOA
enables rRNA (adenine-N6-)-methyltransferase activity	IDA IDA: Inferred from direct assay	31328227	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of translation	IMP IMP: Inferred from mutant phenotype	33357433	GOA
involved in rRNA methylation	IDA IDA: Inferred from direct assay	31328227	GOA
involved in rRNA processing	IDA IDA: Inferred from direct assay	33428944	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	31564433	GOA
located in postsynapse	IDA IDA: Inferred from direct assay	31564433	GOA
located in presynapse	IDA IDA: Inferred from direct assay	31564433	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

METTL5 Protein Structure

MTS

0
100
209 a.a.

Protein Preferred Names

Protein Names

rRNA N6-adenosine-methyltransferase METTL5

methyltransferase like 5

METTL5 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	METTL5	Q9NRN9	TRMT112	Homo sapiens	Q9UI30	Confocal	34948388
Intra	METTL5	Q9NRN9	TRMT112	Homo sapiens	Q9UI30	Y2H Prey Pooling	32296183
Intra	METTL5	Q9NRN9	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	34948388
Intra	METTL5	Q9NRN9	TRMT112	Homo sapiens	Q9UI30	Validated Y2H	32296183
Intra	METTL5	Q9NRN9	TRMT112	Homo sapiens	Q9UI30	Y2H Array	32296183
Intra	METTL5	Q9NRN9	ZBTB5	Homo sapiens	O15062	Y2H Array	32296183
Intra	METTL5	Q9NRN9	ZBTB5	Homo sapiens	O15062	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 72

MRT72	Mental Retardation, Autosomal Recessive 72
Autosomal Recessive Intellectual Developmental Disorder 72	Autosomal Recessive Intellectual Developmental Disorder-72
Autosomal Recessive Mental Retardation 72

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08366	METTL5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	METTL5	MGD	MGI:1922672
Macaca mulatta	METTL5	VGNC	VGNC:99381
Felis catus	METTL5	VGNC	VGNC:80280
Rattus norvegicus	METTL5	RGD	RGD:1566062
Canis familiaris	METTL5	VGNC	VGNC:43179
Bos taurus	METTL5	VGNC	VGNC:31414

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