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Protein

Probable 28S rRNA (cytosine-C(5))-methyltransferase

Gene

NSUN5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 3782 in 28S rRNA.1 Publication

Catalytic activityi

S-adenosyl-L-methionine + cytosine(3782) in 28S rRNA = S-adenosyl-L-homocysteine + C5-methylcytosine(3782) in 28S rRNA.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei258S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Binding sitei263S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Binding sitei305S-adenosyl-L-methioninePROSITE-ProRule annotation1 Publication1
Active sitei359NucleophilePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMethyltransferase, RNA-binding, Transferase
Biological processrRNA processing
LigandS-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Probable 28S rRNA (cytosine-C(5))-methyltransferase (EC:2.1.1.-1 Publication)
Alternative name(s):
NOL1-related protein
Short name:
NOL1R
NOL1/NOP2/Sun domain family member 5
Williams-Beuren syndrome chromosomal region 20A protein
Gene namesi
Name:NSUN5
Synonyms:NSUN5A, WBSCR20, WBSCR20A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000130305.16
HGNCiHGNC:16385 NSUN5
MIMi615732 gene
neXtProtiNX_Q96P11

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi55695
OpenTargetsiENSG00000130305
PharmGKBiPA134993779

Polymorphism and mutation databases

BioMutaiNSUN5
DMDMi118573085

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002616692 – 429Probable 28S rRNA (cytosine-C(5))-methyltransferaseAdd BLAST428

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylglycine1 Publication1
Modified residuei167PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96P11
MaxQBiQ96P11
PaxDbiQ96P11
PeptideAtlasiQ96P11
PRIDEiQ96P11

PTM databases

iPTMnetiQ96P11
PhosphoSitePlusiQ96P11

Expressioni

Tissue specificityi

Ubiquitous. Detected in placenta, heart and skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000130305
CleanExiHS_NSUN5
ExpressionAtlasiQ96P11 baseline and differential
GenevisibleiQ96P11 HS

Organism-specific databases

HPAiHPA020536
HPA045590
HPA046867

Interactioni

Protein-protein interaction databases

BioGridi120820, 25 interactors
IntActiQ96P11, 5 interactors
MINTiQ96P11
STRINGi9606.ENSP00000309126

Structurei

Secondary structure

1429
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi136 – 140Combined sources5
Turni142 – 144Combined sources3
Helixi147 – 156Combined sources10
Beta strandi160 – 164Combined sources5
Helixi168 – 172Combined sources5
Beta strandi178 – 181Combined sources4
Beta strandi183 – 185Combined sources3
Beta strandi188 – 191Combined sources4
Helixi201 – 204Combined sources4
Beta strandi207 – 210Combined sources4
Helixi214 – 216Combined sources3
Helixi217 – 222Combined sources6
Beta strandi229 – 234Combined sources6
Helixi239 – 248Combined sources10
Beta strandi252 – 259Combined sources8
Helixi261 – 273Combined sources13
Beta strandi278 – 283Combined sources6
Helixi286 – 288Combined sources3
Helixi294 – 296Combined sources3
Beta strandi299 – 304Combined sources6
Helixi331 – 345Combined sources15
Beta strandi353 – 359Combined sources7
Helixi363 – 365Combined sources3
Helixi367 – 374Combined sources8
Turni378 – 380Combined sources3
Beta strandi381 – 383Combined sources3
Beta strandi396 – 398Combined sources3
Helixi401 – 403Combined sources3
Beta strandi404 – 407Combined sources4
Helixi409 – 412Combined sources4
Beta strandi416 – 424Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2B9EX-ray1.65A127-429[»]
ProteinModelPortaliQ96P11
SMRiQ96P11
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96P11

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni234 – 240S-adenosyl-L-methionine binding7

Sequence similaritiesi

Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2360 Eukaryota
COG0144 LUCA
GeneTreeiENSGT00550000074709
HOGENOMiHOG000203203
HOVERGENiHBG062278
InParanoidiQ96P11
KOiK15264
OMAiLVCETQR
OrthoDBiEOG091G0TW9
PhylomeDBiQ96P11
TreeFamiTF314285

Family and domain databases

InterProiView protein in InterPro
IPR001678 MeTrfase_RsmB/NOP2
IPR023267 RCMT
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF01189 Methyltr_RsmB-F, 1 hit
PRINTSiPR02008 RCMTFAMILY
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51686 SAM_MT_RSMB_NOP, 1 hit

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96P11-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGLYAAAAGV LAGVESRQGS IKGLVYSSNF QNVKQLYALV CETQRYSAVL
60 70 80 90 100
DAVIASAGLL RAEKKLRPHL AKVLVYELLL GKGFRGGGGR WKALLGRHQA
110 120 130 140 150
RLKAELARLK VHRGVSRNED LLEVGSRPGP ASQLPRFVRV NTLKTCSDDV
160 170 180 190 200
VDYFKRQGFS YQGRASSLDD LRALKGKHFL LDPLMPELLV FPAQTDLHEH
210 220 230 240 250
PLYRAGHLIL QDRASCLPAM LLDPPPGSHV IDACAAPGNK TSHLAALLKN
260 270 280 290 300
QGKIFAFDLD AKRLASMATL LARAGVSCCE LAEEDFLAVS PSDPRYHEVH
310 320 330 340 350
YILLDPSCSG SGMPSRQLEE PGAGTPSPVR LHALAGFQQR ALCHALTFPS
360 370 380 390 400
LQRLVYSTCS LCQEENEDVV RDALQQNPGA FRLAPALPAW PHRGLSTFPG
410 420
AEHCLRASPE TTLSSGFFVA VIERVEVPR
Length:429
Mass (Da):46,692
Last modified:November 28, 2006 - v2
Checksum:iE4DA635C6135298B
GO
Isoform 2 (identifier: Q96P11-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     429-429: R → SSASQAKASAPERTPSPAPKRKKRQQRAAAGACTPPCT

Show »
Length:466
Mass (Da):50,411
Checksum:i6AB933A70607C4B9
GO
Isoform 3 (identifier: Q96P11-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.
     58-72: GLLRAEKKLRPHLAK → MLRAFLFLSLFPHSQ
     253-381: KIFAFDLDAK...DALQQNPGAF → SLPLTWMPSG...RCSRTRAPSG
     382-429: Missing.

Show »
Length:324
Mass (Da):36,075
Checksum:i045EDB19E1A7CAA5
GO
Isoform 4 (identifier: Q96P11-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     429-429: R → SLTGQSISTRTHTQPSPKEKEETAKSRSRCLHTALHIAEAPG

Note: No experimental confirmation available.
Show »
Length:470
Mass (Da):51,061
Checksum:i946D7FC8E1768174
GO
Isoform 5 (identifier: Q96P11-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-109: Missing.

Note: No experimental confirmation available.
Show »
Length:391
Mass (Da):42,478
Checksum:i21C93D90C15F9D30
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42E → G in AAL16067 (PubMed:11978965).Curated1
Sequence conflicti100A → P in AAL16067 (PubMed:11978965).Curated1
Sequence conflicti425V → A in BAG54316 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051889183P → S. Corresponds to variant dbSNP:rs34913552Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0217521 – 57Missing in isoform 3. CuratedAdd BLAST57
Alternative sequenceiVSP_02175358 – 72GLLRA…PHLAK → MLRAFLFLSLFPHSQ in isoform 3. CuratedAdd BLAST15
Alternative sequenceiVSP_04549272 – 109Missing in isoform 5. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_021754253 – 381KIFAF…NPGAF → SLPLTWMPSGWHPWPRCWPG LASLAVNWLRRTSWRSPPRI HATMRSTTSCWILPAVARVC RADSWRSPGQAHLARCVCMP WQGSSSEPCATRSLSLPCSG SSTPRAPSARRRMKTWCEMR CSRTRAPSG in isoform 3. CuratedAdd BLAST129
Alternative sequenceiVSP_021755382 – 429Missing in isoform 3. CuratedAdd BLAST48
Alternative sequenceiVSP_021756429R → SSASQAKASAPERTPSPAPK RKKRQQRAAAGACTPPCT in isoform 2. 3 Publications1
Alternative sequenceiVSP_043352429R → SLTGQSISTRTHTQPSPKEK EETAKSRSRCLHTALHIAEA PG in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF420249 mRNA Translation: AAL16067.1
AF412028 mRNA Translation: AAM62310.1
AK001129 mRNA Translation: BAA91515.1
AK125667 mRNA No translation available.
AK126375 mRNA Translation: BAG54316.1
AK298221 mRNA Translation: BAG60491.1
AC073841 Genomic DNA Translation: AAQ96838.1
AC073841 Genomic DNA Translation: AAQ96839.1
CH471200 Genomic DNA Translation: EAW69694.1
BC008084 mRNA Translation: AAH08084.1
CCDSiCCDS55118.1 [Q96P11-5]
CCDS55119.1 [Q96P11-4]
CCDS5546.1 [Q96P11-2]
CCDS5547.1 [Q96P11-1]
RefSeqiNP_001161819.1, NM_001168347.2 [Q96P11-4]
NP_001161820.1, NM_001168348.2 [Q96P11-5]
NP_060514.1, NM_018044.4 [Q96P11-1]
NP_683759.1, NM_148956.3 [Q96P11-2]
UniGeneiHs.510927
Hs.647060
Hs.655217

Genome annotation databases

EnsembliENST00000252594; ENSP00000252594; ENSG00000130305 [Q96P11-1]
ENST00000310326; ENSP00000309126; ENSG00000130305 [Q96P11-4]
ENST00000428206; ENSP00000393081; ENSG00000130305 [Q96P11-5]
ENST00000438747; ENSP00000388464; ENSG00000130305 [Q96P11-2]
GeneIDi55695
KEGGihsa:55695
UCSCiuc003txv.5 human [Q96P11-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNSUN5_HUMAN
AccessioniPrimary (citable) accession number: Q96P11
Secondary accession number(s): B3KX04
, B4DP79, G3V0G9, Q6ZUI8, Q96HT9, Q9NW70
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: April 25, 2018
This is version 129 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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