NSUN4 - NOP2/Sun RNA methyltransferase 4 Gene

Also Known as SHTAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 387338

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in rRNA methylation IDA
IDA: Inferred from direct assay
23022348 GOA
Cellular Component GO Annotation Evidence References 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

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (155 - 325)

  • 0
  • 100
  • 200
  • 300
  • 384 a.a.
Protein Preferred Names Protein Names

5-methylcytosine rRNA methyltransferase NSUN4

  • 5-methylcytosine tRNA methyltransferase NSUN4

NSUN4 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P86991 NSUN4 Antibody (YA6684) WB, ICC/IF Human

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

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
Others NSUN4 NCBI