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Q96P11 (NSUN5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Putative methyltransferase NSUN5
EC=2.1.1.-
Alternative name(s):
NOL1-related protein
Short name=NOL1R
NOL1/NOP2/Sun domain family member 5
Williams-Beuren syndrome chromosomal region 20A protein
Gene names
Name:NSUN5
Synonyms:WBSCR20, WBSCR20A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length429 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May have S-adenosyl-L-methionine-dependent methyl-transferase activity Potential.

Tissue specificity

Ubiquitous. Detected in placenta, heart and skeletal muscle. Ref.1 Ref.2

Post-translational modification

Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR.

Involvement in disease

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.

Sequence similarities

Belongs to the methyltransferase superfamily. RsmB/NOP family.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96P11-1)

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.
Isoform 2 (identifier: Q96P11-2)

The sequence of this isoform differs from the canonical sequence as follows:
     429-429: R → SSASQAKASAPERTPSPAPKRKKRQQRAAAGACTPPCT
Note: Phosphorylated on Ser-432 upon DNA damage, probably by ATM or ATR.
Isoform 3 (identifier: Q96P11-3)

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.
Isoform 4 (identifier: Q96P11-4)

The sequence of this isoform differs from the canonical sequence as follows:
     429-429: R → SLTGQSISTRTHTQPSPKEKEETAKSRSRCLHTALHIAEAPG
Note: No experimental confirmation available.
Isoform 5 (identifier: Q96P11-5)

The sequence of this isoform differs from the canonical sequence as follows:
     72-109: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 429428Putative methyltransferase NSUN5
PRO_0000261669

Regions

Region234 – 2407S-adenosyl-L-methionine binding
Region285 – 2862S-adenosyl-L-methionine binding

Sites

Active site3591Nucleophile Potential
Binding site2581S-adenosyl-L-methionine
Binding site2631S-adenosyl-L-methionine
Binding site3051S-adenosyl-L-methionine

Amino acid modifications

Modified residue21N-acetylglycine Ref.7
Modified residue1671Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 5757Missing in isoform 3.
VSP_021752
Alternative sequence58 – 7215GLLRA…PHLAK → MLRAFLFLSLFPHSQ in isoform 3.
VSP_021753
Alternative sequence72 – 10938Missing in isoform 5.
VSP_045492
Alternative sequence253 – 381129KIFAF…NPGAF → SLPLTWMPSGWHPWPRCWPG LASLAVNWLRRTSWRSPPRI HATMRSTTSCWILPAVARVC RADSWRSPGQAHLARCVCMP WQGSSSEPCATRSLSLPCSG SSTPRAPSARRRMKTWCEMR CSRTRAPSG in isoform 3.
VSP_021754
Alternative sequence382 – 42948Missing in isoform 3.
VSP_021755
Alternative sequence4291R → SSASQAKASAPERTPSPAPK RKKRQQRAAAGACTPPCT in isoform 2.
VSP_021756
Alternative sequence4291R → SLTGQSISTRTHTQPSPKEK EETAKSRSRCLHTALHIAEA PG in isoform 4.
VSP_043352
Natural variant1831P → S.
Corresponds to variant rs34913552 [ dbSNP | Ensembl ].
VAR_051889

Experimental info

Sequence conflict421E → G in AAL16067. Ref.1
Sequence conflict1001A → P in AAL16067. Ref.1
Sequence conflict4251V → A in BAG54316. Ref.3

Secondary structure

1 ............................................................ 429
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2006. Version 2.
Checksum: E4DA635C6135298B

FASTA42946,692
        10         20         30         40         50         60 
MGLYAAAAGV LAGVESRQGS IKGLVYSSNF QNVKQLYALV CETQRYSAVL DAVIASAGLL 

        70         80         90        100        110        120 
RAEKKLRPHL AKVLVYELLL GKGFRGGGGR WKALLGRHQA RLKAELARLK VHRGVSRNED 

       130        140        150        160        170        180 
LLEVGSRPGP ASQLPRFVRV NTLKTCSDDV VDYFKRQGFS YQGRASSLDD LRALKGKHFL 

       190        200        210        220        230        240 
LDPLMPELLV FPAQTDLHEH PLYRAGHLIL QDRASCLPAM LLDPPPGSHV IDACAAPGNK 

       250        260        270        280        290        300 
TSHLAALLKN QGKIFAFDLD AKRLASMATL LARAGVSCCE LAEEDFLAVS PSDPRYHEVH 

       310        320        330        340        350        360 
YILLDPSCSG SGMPSRQLEE PGAGTPSPVR LHALAGFQQR ALCHALTFPS LQRLVYSTCS 

       370        380        390        400        410        420 
LCQEENEDVV RDALQQNPGA FRLAPALPAW PHRGLSTFPG AEHCLRASPE TTLSSGFFVA 


VIERVEVPR

« Hide

Isoform 2 [UniParc].

Checksum: 6AB933A70607C4B9
Show »

FASTA46650,411
Isoform 3 [UniParc].

Checksum: 045EDB19E1A7CAA5
Show »

FASTA32436,075
Isoform 4 [UniParc].

Checksum: 946D7FC8E1768174
Show »

FASTA47051,061
Isoform 5 [UniParc].

Checksum: 21C93D90C15F9D30
Show »

FASTA39142,478

References

« Hide 'large scale' references
[1]"Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome."
Doll A., Grzeschik K.-H.
Cytogenet. Cell Genet. 95:20-27(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Identification of additional transcripts in the Williams-Beuren syndrome critical region."
Merla G., Ucla C., Guipponi M., Reymond A.
Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 4 AND 5).
Tissue: Embryo, Mammary tumor and Uterus.
[4]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Lung.
[7]Bienvenut W.V., Boldt K., von Kriegsheim A.F., Kolch W.
Submitted (JUL-2007) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-17; 46-61 AND 73-82, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT GLY-2, MASS SPECTROMETRY.
Tissue: Hepatoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-167, MASS SPECTROMETRY.
[10]"The crystal structure of human NSUN5 protein in complex with S-adenosyl-L-methionine."
Structural genomics consortium (SGC)
Submitted (MAR-2006) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 127-429 IN COMPLEX WITH S-ADENOSYL-L-METHIONINE.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00101659.
IPI00164154.
IPI00807684.
IPI00902543.
IPI00910694.
RefSeqNP_001161819.1. NM_001168347.1.
NP_001161820.1. NM_001168348.1.
NP_060514.1. NM_018044.3.
NP_683759.1. NM_148956.2.
UniGeneHs.647060.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2B9EX-ray1.65A125-429[»]
ProteinModelPortalQ96P11.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000388464.

Polymorphism databases

DMDM118573085.

Proteomic databases

PaxDbQ96P11.
PRIDEQ96P11.

Protocols and materials databases

DNASU55695.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252594; ENSP00000252594; ENSG00000130305.
ENST00000310326; ENSP00000309126; ENSG00000130305.
ENST00000428206; ENSP00000393081; ENSG00000130305.
ENST00000438747; ENSP00000388464; ENSG00000130305.
ENST00000570494; ENSP00000459459; ENSG00000262589.
ENST00000573847; ENSP00000461767; ENSG00000262589.
ENST00000575600; ENSP00000460118; ENSG00000262589.
ENST00000577167; ENSP00000461805; ENSG00000262589.
GeneID55695.
KEGGhsa:55695.
UCSCuc003txv.3. human.
uc003txw.3. human.

Organism-specific databases

CTD55695.
GeneCardsGC07M072716.
HGNCHGNC:16385. NSUN5.
HPAHPA020536.
neXtProtNX_Q96P11.
PharmGKBPA134993779.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0144.
HOGENOMHOG000203203.
HOVERGENHBG062278.
KOK15264.
OMATLKTCSD.

Gene expression databases

ArrayExpressQ96P11.
BgeeQ96P11.
CleanExHS_NSUN5.
GenevestigatorQ96P11.
GermOnlineENSG00000130305. Homo sapiens.

Family and domain databases

InterProIPR001678. Fmu/NOL1/Nop2p.
IPR023267. RCMT.
[Graphical view]
PfamPF01189. Nol1_Nop2_Fmu. 1 hit.
[Graphical view]
PRINTSPR02008. RCMTFAMILY.
PROSITEPS01153. NOL1_NOP2_SUN. False negative.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ96P11.
GenomeRNAi55695.
NextBio60515.

Entry information

Entry nameNSUN5_HUMAN
AccessionPrimary (citable) accession number: Q96P11
Secondary accession number(s): B3KX04 expand/collapse secondary AC list , B4DP79, G3V0G9, Q6ZUI8, Q96HT9, Q9NW70
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: May 1, 2013
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

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