ID   NSN5B_HUMAN             Reviewed;         163 AA.
AC   Q3KNT7; B3KX24; Q52LC6; Q8N728;
DT   28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT   08-NOV-2005, sequence version 1.
DT   03-AUG-2022, entry version 100.
DE   RecName: Full=Putative NOL1/NOP2/Sun domain family member 5B;
DE            EC=2.1.1.-;
DE   AltName: Full=Williams-Beuren syndrome chromosomal region 20B protein;
GN   Name=NSUN5P1; Synonyms=NSUN5B, WBSCR20B;
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 3), 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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Thymus, and Uterus;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Brain;
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   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q3KNT7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q3KNT7-2; Sequence=VSP_021757;
CC       Name=3;
CC         IsoId=Q3KNT7-3; Sequence=VSP_021757, VSP_021758;
CC   -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12073013}.
CC   -!- DISEASE: Note=NSUN5P1 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}.
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DR   EMBL; AF416610; AAM62318.1; -; mRNA.
DR   EMBL; AK126486; BAG54336.1; -; mRNA.
DR   EMBL; AK128374; BAG54668.1; -; mRNA.
DR   EMBL; BC093978; AAH93978.1; -; mRNA.
DR   EMBL; BC107112; AAI07113.1; -; mRNA.
DR   AlphaFoldDB; Q3KNT7; -.
DR   SMR; Q3KNT7; -.
DR   iPTMnet; Q3KNT7; -.
DR   PhosphoSitePlus; Q3KNT7; -.
DR   BioMuta; HGNC:19146; -.
DR   jPOST; Q3KNT7; -.
DR   MassIVE; Q3KNT7; -.
DR   MaxQB; Q3KNT7; -.
DR   PeptideAtlas; Q3KNT7; -.
DR   PRIDE; Q3KNT7; -.
DR   ProteomicsDB; 61699; -. [Q3KNT7-1]
DR   ProteomicsDB; 61700; -. [Q3KNT7-2]
DR   ProteomicsDB; 61701; -. [Q3KNT7-3]
DR   GeneCards; NSUN5P1; -.
DR   HGNC; HGNC:19146; NSUN5P1.
DR   neXtProt; NX_Q3KNT7; -.
DR   PharmGKB; PA143485559; -.
DR   InParanoid; Q3KNT7; -.
DR   PhylomeDB; Q3KNT7; -.
DR   PathwayCommons; Q3KNT7; -.
DR   ChiTaRS; NSUN5P1; human.
DR   Pharos; Q3KNT7; Tdark.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q3KNT7; 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..163
FT                   /note="Putative NOL1/NOP2/Sun domain family member 5B"
FT                   /id="PRO_0000261671"
FT   ACT_SITE        93
FT                   /note="Nucleophile"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01023"
FT   VAR_SEQ         1..46
FT                   /note="Missing (in isoform 2 and isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12073013,
FT                   ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT                   /id="VSP_021757"
FT   VAR_SEQ         163
FT                   /note="T -> TSASQAKASAPERTPSPAPKRKKRQQRAAAGACTPPCT (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12073013"
FT                   /id="VSP_021758"
SQ   SEQUENCE   163 AA;  17679 MW;  7F3972F25F22A003 CRC64;
     MATLLAWVGV SCCELAEEDF LAVSPLDPRY REVHYVLLDP SCSGSGMPSR QLEDPGAGTP
     SPVRLHALAG FQQRALCHAL TFPSLQRLVY SMCSLCQEEN EDMVPDALQQ NPGAFRLAPA
     LPARPHRGLS TFPGAEHCLR ASPKTTLSGG FFVAVIERVE MPT