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O43709 (WBS22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ribosome biogenesis methyltransferase WBSCR22

EC=2.1.1.-
Alternative name(s):
Williams-Beuren syndrome chromosomal region 22 protein
Gene names
Name:WBSCR22
ORF Names:HUSSY-03, PP3381
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length281 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as a methyltransferase involved in the processing of 18S pre-rRNAs and biosynthesis of 40S ribosomal particles. Ref.10

Subcellular location

Nucleus. Note: Localized diffusely throughout the nucleus. Ref.10

Tissue specificity

Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis. Ref.1 Ref.3

Involvement in disease

WBSCR22 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. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Sequence similarities

Belongs to the methyltransferase superfamily.

Sequence caution

The sequence AAG17249.1 differs from that shown. Reason: Frameshift at positions 194 and 203.

Ontologies

Keywords
   Biological processRibosome biogenesis
rRNA processing
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseWilliams-Beuren syndrome
   Molecular functionMethyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processrRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionmethyltransferase activity

Non-traceable author statement Ref.2. Source: UniProtKB

poly(A) RNA binding

Inferred from direct assay PubMed 22681889. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43709-1)

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: O43709-2)

The sequence of this isoform differs from the canonical sequence as follows:
     171-281: LELITTQATK...YTGRKRKPRF → VSPSATGCAG...VWPLMAHLMT
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 281281Ribosome biogenesis methyltransferase WBSCR22
PRO_0000204450

Natural variations

Alternative sequence171 – 281111LELIT…RKPRF → VSPSATGCAGELGDSTGKLS WGSDKESYADWREKEETCTL VWPLMAHLMT in isoform 2.
VSP_011511

Sequences

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

Last modified October 10, 2002. Version 2.
Checksum: B090B5F0A156B36A

FASTA28131,880
        10         20         30         40         50         60 
MASRGRRPEH GGPPELFYDE TEARKYVRNS RMIDIQTRMA GRALELLYLP ENKPCYLLDI 

        70         80         90        100        110        120 
GCGTGLSGSY LSDEGHYWVG LDISPAMLDE AVDREIEGDL LLGDMGQGIP FKPGTFDGCI 

       130        140        150        160        170        180 
SISAVQWLCN ANKKSENPAK RLYCFFASLF SVLVRGSRAV LQLYPENSEQ LELITTQATK 

       190        200        210        220        230        240 
AGFSGGMVVD YPNSAKAKKF YLCLFSGPST FIPEGLSENQ DEVEPRESVF TNERFPLRMS 

       250        260        270        280 
RRGMVRKSRA WVLEKKERHR RQGREVRPDT QYTGRKRKPR F 

« Hide

Isoform 2 [UniParc].

Checksum: 834E91DBD30FA33A
Show »

FASTA22024,360

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]"Characterization of 16 novel human genes showing high similarity to yeast sequences."
Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"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 1), TISSUE SPECIFICITY.
[4]"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].
[5]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"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].
[7]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].
[8]"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] (ISOFORM 1).
Tissue: Cervix, Lung and Skin.
[9]"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].
[10]"The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells."
Ounap K., Kasper L., Kurg A., Kurg R.
PLoS ONE 8:E75686-E75686(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF420248 mRNA. Translation: AAL16066.1.
AJ224442 mRNA. Translation: CAA11944.1.
AF412034 mRNA. Translation: AAM62316.1.
AK291116 mRNA. Translation: BAF83805.1.
AK315032 mRNA. Translation: BAG37517.1.
AF218007 mRNA. Translation: AAG17249.1. Sequence problems.
AC073846 Genomic DNA. Translation: AAS07473.1.
CH471200 Genomic DNA. Translation: EAW69657.1.
BC000169 mRNA. Translation: AAH00169.2.
BC001780 mRNA. Translation: AAH01780.2.
BC011696 mRNA. Translation: AAH11696.2.
RefSeqNP_001189489.1. NM_001202560.2.
NP_059998.2. NM_017528.4.
UniGeneHs.647063.

3D structure databases

ProteinModelPortalO43709.
SMRO43709. Positions 18-164.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125277. 12 interactions.
IntActO43709. 5 interactions.
MINTMINT-2999647.
STRING9606.ENSP00000265758.

PTM databases

PhosphoSiteO43709.

Proteomic databases

PaxDbO43709.
PRIDEO43709.

Protocols and materials databases

DNASU114049.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265758; ENSP00000265758; ENSG00000071462. [O43709-1]
ENST00000574150; ENSP00000461671; ENSG00000262030. [O43709-1]
GeneID114049.
KEGGhsa:114049.
UCSCuc003tyt.3. human. [O43709-1]

Organism-specific databases

CTD114049.
GeneCardsGC07P073097.
H-InvDBHIX0006753.
HGNCHGNC:16405. WBSCR22.
HPAHPA052185.
MIM194050. phenotype.
neXtProtNX_O43709.
Orphanet904. Williams syndrome.
PharmGKBPA38133.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0500.
HOGENOMHOG000111527.
HOVERGENHBG054765.
InParanoidO43709.
KOK00599.
PhylomeDBO43709.

Gene expression databases

ArrayExpressO43709.
BgeeO43709.
CleanExHS_WBSCR22.
GenevestigatorO43709.

Family and domain databases

InterProIPR013216. Methyltransf_11.
IPR022238. Unchr_MeTrfase_Williams-Beuren.
[Graphical view]
PfamPF08241. Methyltransf_11. 1 hit.
PF12589. WBS_methylT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSWBSCR22. human.
GeneWikiWBSCR22.
GenomeRNAi114049.
NextBio78975.
PROO43709.
SOURCESearch...

Entry information

Entry nameWBS22_HUMAN
AccessionPrimary (citable) accession number: O43709
Secondary accession number(s): A8K501 expand/collapse secondary AC list , Q96P12, Q9BQ58, Q9HBP9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 10, 2002
Last modified: April 16, 2014
This is version 122 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

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