Q96CB9 · NSUN4_HUMAN
- Protein5-methylcytosine rRNA methyltransferase NSUN4
- GeneNSUN4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids384 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Catalytic activity
- a cytidine in rRNA + S-adenosyl-L-methionine = a 5-methylcytidine in rRNA + H+ + S-adenosyl-L-homocysteine
- a cytidine in tRNA + S-adenosyl-L-methionine = a 5-methylcytidine in tRNA + H+ + S-adenosyl-L-homocysteine
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial large ribosomal subunit | |
Cellular Component | mitochondrial matrix | |
Molecular Function | methyltransferase activity | |
Molecular Function | rRNA (cytosine-C5-)-methyltransferase activity | |
Molecular Function | rRNA binding | |
Molecular Function | rRNA methyltransferase activity | |
Molecular Function | tRNA (cytidine-5-)-methyltransferase activity | |
Biological Process | rRNA methylation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended name5-methylcytosine rRNA methyltransferase NSUN4
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96CB9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_032606 | 51 | in dbSNP:rs3737744 | |||
Sequence: T → A | ||||||
Mutagenesis | 65 | Disrupts complex with MTERFD2; when associated with A-136, R-139 and A-141. | ||||
Sequence: V → R | ||||||
Natural variant | VAR_032607 | 128 | in dbSNP:rs17102152 | |||
Sequence: N → K | ||||||
Mutagenesis | 136 | Disrupts complex with MTERFD2; when associated with R-65, R-139 and A-141. | ||||
Sequence: R → A | ||||||
Mutagenesis | 139 | Disrupts complex with MTERFD2; when associated with R-65, A-136, and A-141. | ||||
Sequence: I → R | ||||||
Mutagenesis | 141 | Disrupts complex with MTERFD2; when associated with R-65, A-136 and R-139. | ||||
Sequence: R → A | ||||||
Natural variant | VAR_032608 | 325 | in dbSNP:rs13374337 | |||
Sequence: I → T | ||||||
Natural variant | VAR_032609 | 365 | in dbSNP:rs9865 | |||
Sequence: I → V |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 410 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Transit peptide | 1-25 | UniProt | Mitochondrion | ||||
Sequence: MAALTLRGVRELLKRVDLATVPRRH | |||||||
Chain | PRO_0000289234 | 26-384 | UniProt | 5-methylcytosine rRNA methyltransferase NSUN4 | |||
Sequence: RYKKKWAATEPKFPAVRLALQNFDMTYSVQFGDLWPSIRVSLLSEQKYGALVNNFAAWDHVSAKLEQLSAKDFVNEAISHWELQSEGGQSAAPSPASWACSPNLRCFTFDRGDISRFPPARPGSLGVMEYYLMDAASLLPVLALGLQPGDIVLDLCAAPGGKTLALLQTGCCRNLAANDLSPSRIARLQKILHSYVPEEIRDGNQVRVTSWDGRKWGELEGDTYDRVLVDVPCTTDRHSLHEEENNIFKRSRKKERQILPVLQVQLLAAGLLATKPGGHVVYSTCSLSHLQNEYVVQGAIELLANQYSIQVQVEDLTHFRRVFMDTFCFFSSCQVGELVIPNLMANFGPMYFCKMRRLT | |||||||
Modified residue | 206 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 206 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 208 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q96CB9-1 | MTERF4 Q7Z6M4 | 7 | EBI-16012886, EBI-948435 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 4 isoforms produced by Alternative splicing.
Q96CB9-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length384
- Mass (Da)43,089
- Last updated2007-05-29 v2
- Checksum4D83B6D55D65C27F
Q96CB9-2
- Name2
- Differences from canonical
- 147-384: Missing
Q96CB9-3
- Name3
Q96CB9-4
- Name4
- Differences from canonical
- 1-49: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
M0R1K5 | M0R1K5_HUMAN | NSUN4 | 151 | ||
Q6ZRQ1 | Q6ZRQ1_HUMAN | NSUN4 | 652 | ||
A0A087X0V6 | A0A087X0V6_HUMAN | NSUN4 | 54 | ||
A0A087WT36 | A0A087WT36_HUMAN | NSUN4 | 136 | ||
A0A087WUV3 | A0A087WUV3_HUMAN | NSUN4 | 106 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_045053 | 1-49 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_025971 | 1-198 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_025972 | 147-384 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_025973 | 199-219 | in isoform 3 | |||
Sequence: NLAANDLSPSRIARLQKILHS → MLPPCCLFWPSACSLGTSCLT | ||||||
Sequence conflict | 282 | in Ref. 1; BAG51912 | ||||
Sequence: Q → R |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK021577 EMBL· GenBank· DDBJ | BAB13847.1 EMBL· GenBank· DDBJ | mRNA | ||
AK057420 EMBL· GenBank· DDBJ | BAG51912.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291741 EMBL· GenBank· DDBJ | BAF84430.1 EMBL· GenBank· DDBJ | mRNA | ||
AK295003 EMBL· GenBank· DDBJ | BAG58065.1 EMBL· GenBank· DDBJ | mRNA | ||
AL122001 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471059 EMBL· GenBank· DDBJ | EAX06917.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC014441 EMBL· GenBank· DDBJ | AAH14441.1 EMBL· GenBank· DDBJ | mRNA | ||
BC016907 EMBL· GenBank· DDBJ | AAH16907.1 EMBL· GenBank· DDBJ | mRNA |