METTL8 - methyltransferase 8, methylcytidine Gene

Homo sapiens

Also known as TIP

Gene ID: 79828 | Gene type: protein coding

About METTL8

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,315,746-171,434,772 (from NCBI)

This gene has 17 transcripts (splice variants), 183 orthologues and 3 paralogues. Ubiquitous expression in skin (RPKM 2.5), esophagus (RPKM 2.0) and 24 other tissues.

Summary

Enables mRNA methyltransferase activity. Involved in mRNA methylation. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

METTL8 Products(10)

mRNA	Protein	Name
NM_001321154.2	NP_001308083.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321155.2	NP_001308084.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321156.2	NP_001308085.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321157.2	NP_001308086.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 2 precursor
NM_001321158.2	NP_001308087.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 3
NM_001321159.2	NP_001308088.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 4
NM_001321160.2	NP_001308089.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 5
NM_001321161.2	NP_001308090.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6
NM_001321162.2	NP_001308091.1	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 7
NM_024770.5	NP_079046.2	tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables mRNA methyltransferase activity	IDA IDA: Inferred from direct assay	34774131	GOA
enables mRNA methyltransferase activity	IMP IMP: Inferred from mutant phenotype	28655767	GOA
enables tRNA (cytidine-3-)-methyltransferase activity	IDA IDA: Inferred from direct assay	34774131	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA metabolic process	IMP IMP: Inferred from mutant phenotype	28655767	GOA
involved in mitochondrial tRNA modification	IDA IDA: Inferred from direct assay	34774131	GOA
involved in positive regulation of mitochondrial translation	IDA IDA: Inferred from direct assay	34774131	GOA
involved in tRNA C3-cytosine methylation	IDA IDA: Inferred from direct assay	34774131	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
NOT is active in cytoplasm	IDA IDA: Inferred from direct assay	34774131	GOA
is active in mitochondrial matrix	IDA IDA: Inferred from direct assay	35017528	GOA
is active in mitochondrion	IDA IDA: Inferred from direct assay	34774131	GOA
NOT is active in nucleus	IDA IDA: Inferred from direct assay	34774131	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

METTL8 Protein Structure

Methyltransf_25

0
100
200
291 a.a.

Protein Preferred Names

Protein Names

tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial

mRNA N(3)-methylcytidine methyltransferase METTL8

Related Diseases

Diseases

Alias

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma	Adult Hepatoma
Adult Hcc

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-RS08370	METTL8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	METTL8	VGNC	VGNC:104543
Mus musculus	METTL8	MGD	MGI:2385142
Canis familiaris	METTL8	VGNC	VGNC:43182
Felis catus	METTL8	VGNC	VGNC:63468
Bos taurus	METTL8	VGNC	VGNC:31417
Rattus norvegicus	METTL8	RGD	RGD:1561059

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