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Protein

Putative methyltransferase NSUN5C

Gene

NSUN5P2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Protein uncertaini

Functioni

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei74 – 741S-adenosyl-L-methioninePROSITE-ProRule annotation
Binding sitei79 – 791S-adenosyl-L-methioninePROSITE-ProRule annotation
Binding sitei121 – 1211S-adenosyl-L-methioninePROSITE-ProRule annotation
Active sitei175 – 1751NucleophilePROSITE-ProRule annotation

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Keywords - Ligandi

RNA-binding, S-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Putative methyltransferase NSUN5C (EC:2.1.1.-)
Alternative name(s):
NOL1/NOP2/Sun domain family member 5C
Williams-Beuren syndrome chromosomal region 20C protein
Gene namesi
Name:NSUN5P2
Synonyms:NSUN5C, WBSCR20B, WBSCR20C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:16609. NSUN5P2.

Pathology & Biotechi

Involvement in diseasei

NSUN5C 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

PharmGKBiPA143485560.

Polymorphism and mutation databases

DMDMi118573084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 315315Putative methyltransferase NSUN5CPRO_0000261672Add
BLAST

Proteomic databases

EPDiQ63ZY6.
MaxQBiQ63ZY6.
PRIDEiQ63ZY6.

PTM databases

iPTMnetiQ63ZY6.
PhosphoSiteiQ63ZY6.

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

CleanExiHS_NSUN5C.

Organism-specific databases

HPAiHPA045590.
HPA046867.

Interactioni

Protein-protein interaction databases

IntActiQ63ZY6. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ63ZY6.
SMRiQ63ZY6. Positions 1-241.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni50 – 567S-adenosyl-L-methionine bindingPROSITE-ProRule annotation

Sequence similaritiesi

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

Phylogenomic databases

InParanoidiQ63ZY6.
PhylomeDBiQ63ZY6.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR001678. MeTrfase_RsmB/NOP2.
IPR023267. RCMT.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF01189. Methyltr_RsmB-F. 1 hit.
[Graphical view]
PRINTSiPR02008. RCMTFAMILY.
SUPFAMiSSF53335. SSF53335. 1 hit.
PROSITEiPS51686. SAM_MT_RSMB_NOP. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q63ZY6-1) [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
MPELLVFPAQ TDLHEHPLYR AGHLILQDRA SCLPAMLLDP RQAPMSWMPV
60 70 80 90 100
PPQAIKTSHL AALLKNQGKI FAFDLDARRL ASMATLLAWA GVSCCELAEE
110 120 130 140 150
DFLAVSPLDP RYREVHYVLL DPSCSGSGMP SRQLEEPGAG TPSPVRLHAL
160 170 180 190 200
AGFQQRALCH ALTFPSLQRL VYSMCSLCQE ENEDMVQDAL QQNPGAFRLA
210 220 230 240 250
PALPARPHRG LSTFPGAEHC LRASPKTTLS GGFFVAVIER VEMPTSASQA
260 270 280 290 300
KASAPERTPS PAPKRKKRAK SCSRCLHTAL HIAEAPGSLL PGGKGRCLSS
310
PWKTLGPHRR QQFAF
Length:315
Mass (Da):34,347
Last modified:November 28, 2006 - v2
Checksum:i3DE31F9DC38A5DF4
GO
Isoform 2 (identifier: Q63ZY6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     129-135: MPSRQLE → EMVRRRG
     136-315: Missing.

Show »
Length:135
Mass (Da):15,022
Checksum:i35AC0F7D7285470E
GO
Isoform 3 (identifier: Q63ZY6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.
     246-315: Missing.

Show »
Length:117
Mass (Da):12,742
Checksum:i5B2E52156AE7BD29
GO
Isoform 4 (identifier: Q63ZY6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     246-315: Missing.

Show »
Length:245
Mass (Da):26,860
Checksum:iD1A550EF46995FE5
GO
Isoform 5 (identifier: Q63ZY6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-168: Missing.

Show »
Length:291
Mass (Da):31,687
Checksum:iA0C1E3FA95A14FDA
GO

Sequence cautioni

The sequence AAI06050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21P → L in AAH82753 (PubMed:15489334).Curated
Sequence conflicti42 – 421Q → R in AAL16068 (PubMed:11978965).Curated
Sequence conflicti42 – 421Q → R in BAB13875 (PubMed:14702039).Curated
Sequence conflicti128 – 1281G → GG in CAH56289 (PubMed:17974005).Curated
Sequence conflicti195 – 1951G → D in AAL16068 (PubMed:11978965).Curated
Sequence conflicti195 – 1951G → D in BAB13875 (PubMed:14702039).Curated
Sequence conflicti281 – 2811H → R in AAL16068 (PubMed:11978965).Curated
Sequence conflicti281 – 2811H → R in BAB13875 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471W → S.
Corresponds to variant rs400282 [ dbSNP | Ensembl ].
VAR_029476
Natural varianti90 – 901A → V.
Corresponds to variant rs395127 [ dbSNP | Ensembl ].
VAR_029477
Natural varianti272 – 2721C → R.
Corresponds to variant rs17145838 [ dbSNP | Ensembl ].
VAR_029478
Natural varianti303 – 3031K → R.2 Publications
Corresponds to variant rs7056 [ dbSNP | Ensembl ].
VAR_029479

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 128128Missing in isoform 3. 1 PublicationVSP_021759Add
BLAST
Alternative sequencei129 – 1357MPSRQLE → EMVRRRG in isoform 2. 2 PublicationsVSP_021761
Alternative sequencei136 – 315180Missing in isoform 2. 2 PublicationsVSP_021762Add
BLAST
Alternative sequencei145 – 16824Missing in isoform 5. 1 PublicationVSP_021763Add
BLAST
Alternative sequencei246 – 31570Missing in isoform 3 and isoform 4. 2 PublicationsVSP_021765Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF420250 mRNA. Translation: AAL16068.1.
AF416611 mRNA. Translation: AAM62319.1.
AK021688 mRNA. Translation: BAB13875.1.
AK292107 mRNA. Translation: BAF84796.1.
AL833016 mRNA. Translation: CAH56289.1. Different termination.
BC056405 mRNA. Translation: AAH56405.1.
BC082753 mRNA. Translation: AAH82753.2.
BC093976 mRNA. Translation: AAH93976.1.
BC101515 mRNA. Translation: AAI01516.1.
BC106049 mRNA. Translation: AAI06050.1. Different initiation.
PIRiT17315.
UniGeneiHs.510927.
Hs.655217.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF420250 mRNA. Translation: AAL16068.1.
AF416611 mRNA. Translation: AAM62319.1.
AK021688 mRNA. Translation: BAB13875.1.
AK292107 mRNA. Translation: BAF84796.1.
AL833016 mRNA. Translation: CAH56289.1. Different termination.
BC056405 mRNA. Translation: AAH56405.1.
BC082753 mRNA. Translation: AAH82753.2.
BC093976 mRNA. Translation: AAH93976.1.
BC101515 mRNA. Translation: AAI01516.1.
BC106049 mRNA. Translation: AAI06050.1. Different initiation.
PIRiT17315.
UniGeneiHs.510927.
Hs.655217.

3D structure databases

ProteinModelPortaliQ63ZY6.
SMRiQ63ZY6. Positions 1-241.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ63ZY6. 1 interaction.

PTM databases

iPTMnetiQ63ZY6.
PhosphoSiteiQ63ZY6.

Polymorphism and mutation databases

DMDMi118573084.

Proteomic databases

EPDiQ63ZY6.
MaxQBiQ63ZY6.
PRIDEiQ63ZY6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Organism-specific databases

GeneCardsiNSUN5P2.
HGNCiHGNC:16609. NSUN5P2.
HPAiHPA045590.
HPA046867.
neXtProtiNX_Q63ZY6.
PharmGKBiPA143485560.
GenAtlasiSearch...

Phylogenomic databases

InParanoidiQ63ZY6.
PhylomeDBiQ63ZY6.

Gene expression databases

CleanExiHS_NSUN5C.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR001678. MeTrfase_RsmB/NOP2.
IPR023267. RCMT.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF01189. Methyltr_RsmB-F. 1 hit.
[Graphical view]
PRINTSiPR02008. RCMTFAMILY.
SUPFAMiSSF53335. SSF53335. 1 hit.
PROSITEiPS51686. SAM_MT_RSMB_NOP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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, VARIANT ARG-303.
  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 5), 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.
    , 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 AND 2), VARIANT ARG-303.
    Tissue: Embryo and Synovium.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Stomach.
  5. "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; 2 AND 3).
    Tissue: Brain, Brain cortex, Peripheral blood leukocyte and Placenta.

Entry informationi

Entry nameiNSN5C_HUMAN
AccessioniPrimary (citable) accession number: Q63ZY6
Secondary accession number(s): A8K7U2
, Q3KQU7, Q658S2, Q6NZ66, Q6PHS1, Q8N727, Q9HAH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: June 8, 2016
This is version 92 of the entry and version 2 of the sequence. [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

Caution

Could be the product of a pseudogene.Curated

Keywords - Technical termi

Complete proteome, 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.