NSUN5
28S rRNA (cytosine-C(5))-methyltransferase
Also known as: FLJ10267, NOL1R, NSUN5_HUMAN, NSUN5A, p120(NOL1), WBSCR20, WBSCR20A, Ynl022cL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96P11
- Gene
- NSUN5
- Ensembl
- ENSG00000130305
- Chromosome
- 7
- Canonical length
- 429 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli
OverviewNCBI Gene
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
429 residues, UniProt reviewed canonical sequence.
>Q96P11|NSUN5
1 MGLYAAAAGV LAGVESRQGS IKGLVYSSNF QNVKQLYALV CETQRYSAVL DAVIASAGLL
61 RAEKKLRPHL AKVLVYELLL GKGFRGGGGR WKALLGRHQA RLKAELARLK VHRGVSRNED
121 LLEVGSRPGP ASQLPRFVRV NTLKTCSDDV VDYFKRQGFS YQGRASSLDD LRALKGKHFL
181 LDPLMPELLV FPAQTDLHEH PLYRAGHLIL QDRASCLPAM LLDPPPGSHV IDACAAPGNK
241 TSHLAALLKN QGKIFAFDLD AKRLASMATL LARAGVSCCE LAEEDFLAVS PSDPRYHEVH
301 YILLDPSCSG SGMPSRQLEE PGAGTPSPVR LHALAGFQQR ALCHALTFPS LQRLVYSTCS
361 LCQEENEDVV RDALQQNPGA FRLAPALPAW PHRGLSTFPG AEHCLRASPE TTLSSGFFVA
421 VIERVEVPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NSUN5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 33 nTPM
- bone marrow: 31 nTPM
- spleen: 21 nTPM
- pancreas: 20 nTPM
- testis: 17 nTPM
- cerebellum: 17 nTPM
Single-cell type
- oocytes: 138 nCPM
- neutrophil progenitors: 110 nCPM
- extravillous trophoblasts: 60 nCPM
- hofbauer cells: 47 nCPM
- differentiating spermatogonia: 47 nCPM
- early primary spermatocytes: 46 nCPM
Immune cell
- naive B-cell: 47 nTPM
- memory B-cell: 33 nTPM
- plasmacytoid DC: 32 nTPM
- naive CD4 T-cell: 32 nTPM
- neutrophil: 28 nTPM
- T-reg: 27 nTPM
Brain region
- white matter: 14 nTPM
- medulla oblongata: 14 nTPM
- pons: 12 nTPM
- cerebellum: 11 nTPM
- spinal cord: 11 nTPM
- cerebral cortex: 11 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.3
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cerebral cortex development
- cognition
- corpus callosum development
- oligodendrocyte development
- positive regulation of translation
- regulation of myelination
- rRNA base methylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SAM-dependent methyltransferase RsmB-F/NOP2-type domain
- RNA (C5-cytosine) methyltransferase
- S-adenosyl-L-methionine-dependent methyltransferase superfamily
- SAM-dependent methyltransferase RsmB-F/NOP2-type, catalytic core
- NOL1/NOP2/NSUN 5/7, ferredoxin-like domain
- 16S rRNA methyltransferase RsmB/F
- NOL1/NOP2/Sun domain family member 5, ferredoxin-like domain
- NSUN5/RCM1, N-terminal domain
- NOL1/NOP2/Sun domain family member 5, N-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NSUN5 as an antibody target. Whether an autoantibody or antibody against NSUN5 could matter depends on whether native NSUN5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NSUN5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NSUN5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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