METTL23 - methyltransferase like 23 Gene

Also Known as MRT44; C17orf95

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 124512

About METTL23

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,726,041-76,733,881 (from NCBI)

This gene has 15 transcripts (splice variants), 191 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.1), thyroid (RPKM 8.5) and 25 other tissues.

Summary

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

METTL23 Products (16)

mRNA	Protein	Name
NM_001080510.5	NP_001073979.3	histone-arginine methyltransferase METTL23 isoform 1
NM_001206983.3	NP_001193912.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001206984.3	NP_001193913.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001206985.3	NP_001193914.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001206986.3	NP_001193915.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001206987.3	NP_001193916.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001302703.2	NP_001289632.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001302704.2	NP_001289633.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001302705.2	NP_001289634.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378348.1	NP_001365277.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001378349.1	NP_001365278.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001378350.1	NP_001365279.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378351.1	NP_001365280.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378352.1	NP_001365281.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378353.1	NP_001365282.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378354.1	NP_001365283.1	histone-arginine methyltransferase METTL23 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	24501276	GOA
enables heat shock protein binding	IPI IPI: Inferred from physical interaction	23349634	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23349634	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cognition	IMP IMP: Inferred from mutant phenotype	24501276	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	24501276	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23349634	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24501276	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23349634	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

METTL23 Protein Structure

Methyltransf_16

0
100
190 a.a.

Protein Preferred Names	Protein Names
histone-arginine methyltransferase METTL23 probable methyltransferase-like protein 23	methyltransferase-like protein 23

Protein Preferred Names

Protein Names

histone-arginine methyltransferase METTL23

probable methyltransferase-like protein 23

methyltransferase-like protein 23

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 44	MRT44 Mental Retardation, Autosomal Recessive 44 Autosomal Recessive Intellectual Developmental Disorder 44 Mental Retardation, Autosomal Recessive, Type 44
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Pontocerebellar Hypoplasia, Type 2a	Pontocerebellar Hypoplasia Type 2a PCH2A Pch2 Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy Volendam Neurodegenerative Disease Pontocerebellar Hypoplasia 2a Hypoplasia, Pontocerebellar, Type 2a
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2e Pch2 PCH2E Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy Pontocerebellar Hypoplasia 2e Pcca2 Progressive Cerebello-Cerebral Atrophy Type 2 Doid:0112328 Hypoplasia, Pontocerebellar, Type 2e Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia Type 2a

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08362	METTL23 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	METTL23	VGNC	VGNC:97284
Felis catus	METTL23	VGNC	VGNC:97505
Mus musculus	METTL23	MGD	MGI:1921569
Rattus norvegicus	METTL23	RGD	RGD:1306284
Macaca mulatta	METTL23	VGNC	VGNC:104631
Canis familiaris	METTL23	VGNC	VGNC:97207