NSUN4 - NOP2/Sun RNA methyltransferase 4 Gene

Homo sapiens

Also known as SHTAP

Gene ID: 387338 | Gene type: protein coding

About NSUN4

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,340,807-46,385,199 (from NCBI)

This gene has 9 transcripts (splice variants), 184 orthologues and 2 paralogues. Broad expression in testis (RPKM 13.3), thyroid (RPKM 4.5) and 25 other tissues.

Summary

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in rRNA methylation. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]

NSUN4 Products(11)

mRNA	Protein	Name
NM_001256127.3	NP_001243056.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform b
NM_001256128.3	NP_001243057.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform b
NM_001387265.1	NP_001374194.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform c
NM_001387266.1	NP_001374195.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform d
NM_001387267.1	NP_001374196.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform e
NM_001387268.1	NP_001374197.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform f
NM_001387269.1	NP_001374198.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform g
NM_001387270.1	NP_001374199.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform h
NM_001387271.1	NP_001374200.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform i
NM_001387272.1	NP_001374201.1	5-methylcytosine rRNA methyltransferase NSUN4 isoform j
NM_199044.4	NP_950245.2	5-methylcytosine rRNA methyltransferase NSUN4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21531335	GOA
enables rRNA (cytosine-C5-)-methyltransferase activity	EXP EXP: Inferred from Experiment	21531335	GOA
enables rRNA methyltransferase activity	IDA IDA: Inferred from direct assay	23022348	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in rRNA methylation	IDA IDA: Inferred from direct assay	23022348	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of mitochondrial large ribosomal subunit	IDA IDA: Inferred from direct assay	21531335	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

NSUN4 Protein Structure

Methyltr_RsmB-F

0
100
200
300
384 a.a.

Protein Preferred Names

Protein Names

5-methylcytosine rRNA methyltransferase NSUN4

5-methylcytosine tRNA methyltransferase NSUN4

Related Diseases

Diseases

Alias

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

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-RS09603	NSUN4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NSUN4	VGNC	VGNC:54217
Mus musculus	NSUN4	MGD	MGI:1919431
Bos taurus	NSUN4	VGNC	VGNC:55638
Felis catus	NSUN4	VGNC	VGNC:107595
Rattus norvegicus	NSUN4	RGD	RGD:1559652

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