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Aliases for NSUN4 Gene

Aliases for NSUN4 Gene

  • NOP2/Sun Domain Family, Member 4 2 3
  • Sperm Head And Tail Associated Protein 2 3
  • NOL1/NOP2/Sun Domain Family Member 4 3 4
  • NOL1/NOP2/Sun Domain Family, Member 4 2
  • Putative Methyltransferase NSUN4 3
  • NOL1/NOP2/Sun Domain Family 4 2
  • EC 2.1.1.29 63
  • EC 2.1.1.- 4
  • EC 2.1.1 63
  • SHTAP 3

External Ids for NSUN4 Gene

Previous GeneCards Identifiers for NSUN4 Gene

  • GC01P046518
  • GC01P046578
  • GC01P046805
  • GC01P044939

Summaries for NSUN4 Gene

GeneCards Summary for NSUN4 Gene

NSUN4 (NOP2/Sun Domain Family, Member 4) is a Protein Coding gene. GO annotations related to this gene include methyltransferase activity and small ribosomal subunit rRNA binding. An important paralog of this gene is NSUN3.

UniProtKB/Swiss-Prot for NSUN4 Gene

  • Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN4 Gene

Genomics for NSUN4 Gene

Regulatory Elements for NSUN4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NSUN4 Gene

Chromosome:
1
Start:
46,340,177 bp from pter
End:
46,365,152 bp from pter
Size:
24,976 bases
Orientation:
Plus strand

Genomic View for NSUN4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSUN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN4 Gene

Proteins for NSUN4 Gene

  • Protein details for NSUN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CB9-NSUN4_HUMAN
    Recommended name:
    5-methylcytosine rRNA methyltransferase NSUN4
    Protein Accession:
    Q96CB9
    Secondary Accessions:
    • A8K6S6
    • B3KQ50
    • B4DHA4
    • Q5TDF7
    • Q96AN8
    • Q9HAJ8

    Protein attributes for NSUN4 Gene

    Size:
    384 amino acids
    Molecular mass:
    43089 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NSUN4 Gene

    Alternative splice isoforms for NSUN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN4 Gene

Proteomics data for NSUN4 Gene at MOPED

Selected DME Specific Peptides for NSUN4 Gene

Post-translational modifications for NSUN4 Gene

  • Ubiquitination at Lys 37, Lys 215, Lys 240, and Lys 274
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for NSUN4 Gene

Gene Families for NSUN4 Gene

Protein Domains for NSUN4 Gene

Graphical View of Domain Structure for InterPro Entry

Q96CB9

UniProtKB/Swiss-Prot:

NSUN4_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
genes like me logo Genes that share domains with NSUN4: view

Function for NSUN4 Gene

Molecular function for NSUN4 Gene

UniProtKB/Swiss-Prot Function:
Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4.

Enzyme Numbers (IUBMB) for NSUN4 Gene

Gene Ontology (GO) - Molecular Function for NSUN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21531335
GO:0008168 methyltransferase activity IDA 23022348
GO:0070181 small ribosomal subunit rRNA binding IEA --
genes like me logo Genes that share ontologies with NSUN4: view
genes like me logo Genes that share phenotypes with NSUN4: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN4

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NSUN4 Gene

Localization for NSUN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSUN4 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSUN4 Gene COMPARTMENTS Subcellular localization image for NSUN4 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for NSUN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005762 mitochondrial large ribosomal subunit IDA 21531335
genes like me logo Genes that share ontologies with NSUN4: view

Pathways & Interactions for NSUN4 Gene

SuperPathways for NSUN4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSUN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031167 rRNA methylation IDA 23022348
GO:0042256 mature ribosome assembly IEA --
GO:0070131 positive regulation of mitochondrial translation IEA --
genes like me logo Genes that share ontologies with NSUN4: view

No data available for Pathways by source and SIGNOR curated interactions for NSUN4 Gene

Drugs & Compounds for NSUN4 Gene

(1) Drugs for NSUN4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
genes like me logo Genes that share compounds with NSUN4: view

Transcripts for NSUN4 Gene

Unigene Clusters for NSUN4 Gene

NOP2/Sun domain family, member 4:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b ^ 8a ·
SP1: - - - - - - - - - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: -
SP11: - -
SP12: - - - - - - - -
SP13: - - -
SP14: - - -
SP15: -

ExUns: 8b ^ 9a · 9b ^ 10a · 10b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for NSUN4 Gene

GeneLoc Exon Structure for
NSUN4
ECgene alternative splicing isoforms for
NSUN4

Expression for NSUN4 Gene

mRNA expression in normal human tissues for NSUN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NSUN4 Gene

This gene is overexpressed in Testis (x8.0).

Protein differential expression in normal tissues from HIPED for NSUN4 Gene

This gene is overexpressed in Heart (50.2) and Breast (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSUN4 Gene



SOURCE GeneReport for Unigene cluster for NSUN4 Gene Hs.163424

genes like me logo Genes that share expression patterns with NSUN4: view

Protein tissue co-expression partners for NSUN4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NSUN4 Gene

Orthologs for NSUN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NSUN4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSUN4 35
  • 88.63 (n)
  • 86.2 (a)
NSUN4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN4 35
  • 89.05 (n)
  • 86.27 (a)
NSUN4 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsun4 35
  • 87.11 (n)
  • 86.58 (a)
Nsun4 16
Nsun4 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSUN4 35
  • 99.83 (n)
  • 99.74 (a)
NSUN4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsun4 35
  • 86.32 (n)
  • 84.21 (a)
oppossum
(Monodelphis domestica)
Mammalia NSUN4 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSUN4 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSUN4 35
  • 64.46 (n)
  • 65.29 (a)
NSUN4 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN4 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun4 35
  • 62.54 (n)
  • 62.37 (a)
Str.15258 35
zebrafish
(Danio rerio)
Actinopterygii Dr.5991 35
nsun4 35
  • 56.39 (n)
  • 55.66 (a)
nsun4 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008523 35
  • 50.94 (n)
  • 47.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4749 35
  • 50.04 (n)
  • 39.62 (a)
CG4749 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39G10AR.21 35
  • 49.85 (n)
  • 43.08 (a)
Y39G10AR.21 36
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP2 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for NSUN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSUN4 Gene

ENSEMBL:
Gene Tree for NSUN4 (if available)
TreeFam:
Gene Tree for NSUN4 (if available)

Paralogs for NSUN4 Gene

Paralogs for NSUN4 Gene

(1) SIMAP similar genes for NSUN4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NSUN4: view

Variants for NSUN4 Gene

Sequence variations from dbSNP and Humsavar for NSUN4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9865 - 46,361,784(+) TGGTA(A/G)TACCA reference, missense, nc-transcript-variant
rs10252 -- 46,364,758(+) GTTAC(A/G)TATGT utr-variant-3-prime, nc-transcript-variant
rs12062 -- 46,364,775(+) TGATT(A/C)CATGG utr-variant-3-prime, nc-transcript-variant
rs324413 -- 46,351,134(-) cctgc(C/G)tcggc intron-variant
rs324414 -- 46,361,542(-) GCAGT(G/T)ACTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSUN4 Gene

Variant ID Type Subtype PubMed ID
nsv470711 CNV Gain 18288195
nsv829748 CNV Loss 17160897
esv22272 CNV Loss 19812545
nsv159955 CNV Loss 16902084

Variation tolerance for NSUN4 Gene

Residual Variation Intolerance Score: 64.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.78; 96.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSUN4 Gene

HapMap Linkage Disequilibrium report
NSUN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSUN4 Gene

Disorders for NSUN4 Gene

Relevant External Links for NSUN4

Genetic Association Database (GAD)
NSUN4
Human Genome Epidemiology (HuGE) Navigator
NSUN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSUN4
genes like me logo Genes that share disorders with NSUN4: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NSUN4 Gene

Publications for NSUN4 Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  3. Global changes in DNA methylation and hydroxymethylation in Alzheimer's disease human brain. (PMID: 24387984) Coppieters N. … Dragunow M. (Neurobiol. Aging 2014) 67
  4. Structure of the essential MTERF4:NSUN4 protein complex reveals how an MTERF protein collaborates to facilitate rRNA modification. (PMID: 23022348) Yakubovskaya E. … Garcia-Diaz M. (Structure 2012) 67
  5. Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. (PMID: 22949673) Spahr H. … Hallberg B.M. (Proc. Natl. Acad. Sci. U.S.A. 2012) 67

Products for NSUN4 Gene

Sources for NSUN4 Gene

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