NSN5C_HUMAN
ID NSN5C_HUMAN Reviewed; 315 AA.
AC Q63ZY6; A8K7U2; Q3KQU7; Q658S2; Q6NZ66; Q6PHS1; Q8N727; Q9HAH4;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Putative methyltransferase NSUN5C;
DE EC=2.1.1.-;
DE AltName: Full=NOL1/NOP2/Sun domain family member 5C;
DE AltName: Full=Williams-Beuren syndrome chromosomal region 20C protein;
GN Name=NSUN5P2; Synonyms=NSUN5C, WBSCR20B, WBSCR20C;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP ARG-303.
RX PubMed=11978965; DOI=10.1159/000057012;
RA Doll A., Grzeschik K.-H.;
RT "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in
RT Williams-Beuren syndrome.";
RL Cytogenet. Cell Genet. 95:20-27(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), AND TISSUE SPECIFICITY.
RX PubMed=12073013; DOI=10.1007/s00439-002-0710-x;
RA Merla G., Ucla C., Guipponi M., Reymond A.;
RT "Identification of additional transcripts in the Williams-Beuren syndrome
RT critical region.";
RL Hum. Genet. 110:429-438(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-303.
RC TISSUE=Embryo, and Synovium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Brain, Brain cortex, Peripheral blood leukocyte, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May have S-adenosyl-L-methionine-dependent methyl-transferase
CC activity. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q63ZY6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q63ZY6-2; Sequence=VSP_021761, VSP_021762;
CC Name=3;
CC IsoId=Q63ZY6-4; Sequence=VSP_021759, VSP_021765;
CC Name=4;
CC IsoId=Q63ZY6-5; Sequence=VSP_021765;
CC Name=5;
CC IsoId=Q63ZY6-6; Sequence=VSP_021763;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11978965,
CC ECO:0000269|PubMed:12073013}.
CC -!- DISEASE: Note=NSUN5C is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region.
CC -!- SIMILARITY: Belongs to the class I-like SAM-binding methyltransferase
CC superfamily. RsmB/NOP family. {ECO:0000255|PROSITE-ProRule:PRU01023}.
CC -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI06050.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF420250; AAL16068.1; -; mRNA.
DR EMBL; AF416611; AAM62319.1; -; mRNA.
DR EMBL; AK021688; BAB13875.1; -; mRNA.
DR EMBL; AK292107; BAF84796.1; -; mRNA.
DR EMBL; AL833016; CAH56289.1; ALT_TERM; mRNA.
DR EMBL; BC056405; AAH56405.1; -; mRNA.
DR EMBL; BC082753; AAH82753.2; -; mRNA.
DR EMBL; BC093976; AAH93976.1; -; mRNA.
DR EMBL; BC101515; AAI01516.1; -; mRNA.
DR EMBL; BC106049; AAI06050.1; ALT_INIT; mRNA.
DR PIR; T17315; T17315.
DR AlphaFoldDB; Q63ZY6; -.
DR SMR; Q63ZY6; -.
DR IntAct; Q63ZY6; 2.
DR MINT; Q63ZY6; -.
DR iPTMnet; Q63ZY6; -.
DR PhosphoSitePlus; Q63ZY6; -.
DR BioMuta; HGNC:16609; -.
DR DMDM; 118573084; -.
DR EPD; Q63ZY6; -.
DR jPOST; Q63ZY6; -.
DR MassIVE; Q63ZY6; -.
DR MaxQB; Q63ZY6; -.
DR PeptideAtlas; Q63ZY6; -.
DR PRIDE; Q63ZY6; -.
DR ProteomicsDB; 65905; -. [Q63ZY6-1]
DR ProteomicsDB; 65906; -. [Q63ZY6-2]
DR ProteomicsDB; 65907; -. [Q63ZY6-4]
DR ProteomicsDB; 65908; -. [Q63ZY6-5]
DR ProteomicsDB; 65909; -. [Q63ZY6-6]
DR GeneCards; NSUN5P2; -.
DR HGNC; HGNC:16609; NSUN5P2.
DR neXtProt; NX_Q63ZY6; -.
DR PharmGKB; PA143485560; -.
DR InParanoid; Q63ZY6; -.
DR PhylomeDB; Q63ZY6; -.
DR PathwayCommons; Q63ZY6; -.
DR SignaLink; Q63ZY6; -.
DR ChiTaRS; NSUN5P2; human.
DR Pharos; Q63ZY6; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q63ZY6; protein.
DR GO; GO:0005730; C:nucleolus; IBA:GO_Central.
DR GO; GO:0008168; F:methyltransferase activity; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0001510; P:RNA methylation; IBA:GO_Central.
DR GO; GO:0070475; P:rRNA base methylation; IBA:GO_Central.
DR Gene3D; 3.40.50.150; -; 1.
DR InterPro; IPR001678; MeTrfase_RsmB/NOP2.
DR InterPro; IPR023267; RCMT.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR PANTHER; PTHR22807; PTHR22807; 1.
DR Pfam; PF01189; Methyltr_RsmB-F; 1.
DR PRINTS; PR02008; RCMTFAMILY.
DR SUPFAM; SSF53335; SSF53335; 1.
DR PROSITE; PS51686; SAM_MT_RSMB_NOP; 1.
PE 5: Uncertain;
KW Alternative splicing; Methyltransferase; Reference proteome; RNA-binding;
KW S-adenosyl-L-methionine; Transferase; Williams-Beuren syndrome.
FT CHAIN 1..315
FT /note="Putative methyltransferase NSUN5C"
FT /id="PRO_0000261672"
FT REGION 245..269
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 175
FT /note="Nucleophile"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT BINDING 50..56
FT /ligand="S-adenosyl-L-methionine"
FT /ligand_id="ChEBI:CHEBI:59789"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT BINDING 74
FT /ligand="S-adenosyl-L-methionine"
FT /ligand_id="ChEBI:CHEBI:59789"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT BINDING 79
FT /ligand="S-adenosyl-L-methionine"
FT /ligand_id="ChEBI:CHEBI:59789"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT BINDING 121
FT /ligand="S-adenosyl-L-methionine"
FT /ligand_id="ChEBI:CHEBI:59789"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT VAR_SEQ 1..128
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021759"
FT VAR_SEQ 129..135
FT /note="MPSRQLE -> EMVRRRG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_021761"
FT VAR_SEQ 136..315
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_021762"
FT VAR_SEQ 145..168
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12073013"
FT /id="VSP_021763"
FT VAR_SEQ 246..315
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_021765"
FT VARIANT 47
FT /note="W -> S (in dbSNP:rs400282)"
FT /id="VAR_029476"
FT VARIANT 90
FT /note="A -> V (in dbSNP:rs395127)"
FT /id="VAR_029477"
FT VARIANT 272
FT /note="C -> R (in dbSNP:rs17145838)"
FT /id="VAR_029478"
FT VARIANT 303
FT /note="K -> R"
FT /evidence="ECO:0000269|PubMed:11978965,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_029479"
FT CONFLICT 2
FT /note="P -> L (in Ref. 5; AAH82753)"
FT /evidence="ECO:0000305"
FT CONFLICT 42
FT /note="Q -> R (in Ref. 1; AAL16068 and 3; BAB13875)"
FT /evidence="ECO:0000305"
FT CONFLICT 128
FT /note="G -> GG (in Ref. 4; CAH56289)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="G -> D (in Ref. 1; AAL16068 and 3; BAB13875)"
FT /evidence="ECO:0000305"
FT CONFLICT 281
FT /note="H -> R (in Ref. 1; AAL16068 and 3; BAB13875)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 315 AA; 34347 MW; 3DE31F9DC38A5DF4 CRC64;
MPELLVFPAQ TDLHEHPLYR AGHLILQDRA SCLPAMLLDP RQAPMSWMPV PPQAIKTSHL
AALLKNQGKI FAFDLDARRL ASMATLLAWA GVSCCELAEE DFLAVSPLDP RYREVHYVLL
DPSCSGSGMP SRQLEEPGAG TPSPVRLHAL AGFQQRALCH ALTFPSLQRL VYSMCSLCQE
ENEDMVQDAL QQNPGAFRLA PALPARPHRG LSTFPGAEHC LRASPKTTLS GGFFVAVIER
VEMPTSASQA KASAPERTPS PAPKRKKRAK SCSRCLHTAL HIAEAPGSLL PGGKGRCLSS
PWKTLGPHRR QQFAF
