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O43709

- WBS22_HUMAN

UniProt

O43709 - WBS22_HUMAN

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Protein

Probable 18S rRNA (guanine-N(7))-methyltransferase

Gene

WBSCR22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N7 position of a guanine in 18S rRNA (By similarity). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors. Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements. Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).By similarity2 Publications

Catalytic activityi

S-adenosyl-L-methionine + guanine in 18S rRNA = S-adenosyl-L-homocysteine + N(7)-methylguanine in 18S rRNA.

GO - Molecular functioni

  1. methyltransferase activity Source: UniProtKB
  2. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. chromatin modification Source: UniProtKB-KW
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. rRNA processing Source: UniProtKB-KW
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Methyltransferase, Transferase

Keywords - Biological processi

Ribosome biogenesis, rRNA processing, Transcription, Transcription regulation

Keywords - Ligandi

S-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Probable 18S rRNA (guanine-N(7))-methyltransferase (EC:2.1.1.-)
Alternative name(s):
Bud site selection protein 23 homolog
Metastasis-related methyltransferase 1
Williams-Beuren syndrome chromosomal region 22 protein
Gene namesi
Name:WBSCR22
Synonyms:MERM1
ORF Names:HUSSY-03, PP3381
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:16405. WBSCR22.

Subcellular locationi

Nucleus. Nucleusnucleolus By similarity. Cytoplasm
Note: Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi180 – 1801K → R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-196. 1 Publication
Mutagenesisi196 – 1961K → R: Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-180. 1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

MIMi194050. phenotype.
Orphaneti904. Williams syndrome.
PharmGKBiPA38133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 281281Probable 18S rRNA (guanine-N(7))-methyltransferasePRO_0000204450Add
BLAST

Post-translational modificationi

May be ubiquitinated and targeted to degradation in response to proinflammatory cytokine signaling.Curated

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiO43709.
PaxDbiO43709.
PRIDEiO43709.

PTM databases

PhosphoSiteiO43709.

Expressioni

Tissue specificityi

Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cells (at protein level). Tends to be down-regulated in lungs affected by inflammatory diseases or neoplasia (at protein level). Expressed in immune cells, including B and T lymphocytes and macrophages.3 Publications

Inductioni

Up-regulated in CD8+ T lymphocytes by treatment with anti-CD3 and in B lymphocytes by treatment with CD40 ligand and anti-B cell receptor antibody. In macrophages, no induction following LPS treatment. Down-regulated by a combined treatment with TNF and IFNG (at protein level).1 Publication

Gene expression databases

BgeeiO43709.
CleanExiHS_WBSCR22.
ExpressionAtlasiO43709. baseline and differential.
GenevestigatoriO43709.

Organism-specific databases

HPAiHPA052185.

Interactioni

Subunit structurei

Interacts with GRIP1.1 Publication

Protein-protein interaction databases

BioGridi125277. 15 interactions.
IntActiO43709. 5 interactions.
MINTiMINT-2999647.
STRINGi9606.ENSP00000265758.

Structurei

3D structure databases

ProteinModelPortaliO43709.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0500.
GeneTreeiENSGT00390000014737.
HOGENOMiHOG000111527.
HOVERGENiHBG054765.
InParanoidiO43709.
PhylomeDBiO43709.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases-like.
IPR022238. Unchr_MeTrfase_Williams-Beuren.
[Graphical view]
PfamiPF08241. Methyltransf_11. 1 hit.
PF12589. WBS_methylT. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43709-1) [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
MASRGRRPEH GGPPELFYDE TEARKYVRNS RMIDIQTRMA GRALELLYLP
60 70 80 90 100
ENKPCYLLDI GCGTGLSGSY LSDEGHYWVG LDISPAMLDE AVDREIEGDL
110 120 130 140 150
LLGDMGQGIP FKPGTFDGCI SISAVQWLCN ANKKSENPAK RLYCFFASLF
160 170 180 190 200
SVLVRGSRAV LQLYPENSEQ LELITTQATK AGFSGGMVVD YPNSAKAKKF
210 220 230 240 250
YLCLFSGPST FIPEGLSENQ DEVEPRESVF TNERFPLRMS RRGMVRKSRA
260 270 280
WVLEKKERHR RQGREVRPDT QYTGRKRKPR F
Length:281
Mass (Da):31,880
Last modified:October 10, 2002 - v2
Checksum:iB090B5F0A156B36A
GO
Isoform 2 (identifier: O43709-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-281: LELITTQATK...YTGRKRKPRF → VSPSATGCAG...VWPLMAHLMT

Note: No experimental confirmation available.

Show »
Length:220
Mass (Da):24,360
Checksum:i834E91DBD30FA33A
GO
Isoform 3 (identifier: O43709-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     233-233: E → EREGGAFERRGIRGHQTR

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »
Length:298
Mass (Da):33,846
Checksum:iCAA524325DAE8F47
GO

Sequence cautioni

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei171 – 281111LELIT…RKPRF → VSPSATGCAGELGDSTGKLS WGSDKESYADWREKEETCTL VWPLMAHLMT in isoform 2. 1 PublicationVSP_011511Add
BLAST
Alternative sequencei233 – 2331E → EREGGAFERRGIRGHQTR in isoform 3. CuratedVSP_054762

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5557.1. [O43709-1]
CCDS56490.1. [O43709-3]
RefSeqiNP_001189489.1. NM_001202560.2. [O43709-3]
NP_059998.2. NM_017528.4. [O43709-1]
UniGeneiHs.647063.

Genome annotation databases

EnsembliENST00000265758; ENSP00000265758; ENSG00000071462. [O43709-1]
ENST00000423497; ENSP00000401191; ENSG00000071462. [O43709-3]
GeneIDi114049.
KEGGihsa:114049.
UCSCiuc003tyt.3. human. [O43709-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS5557.1. [O43709-1 ]
CCDS56490.1. [O43709-3 ]
RefSeqi NP_001189489.1. NM_001202560.2. [O43709-3 ]
NP_059998.2. NM_017528.4. [O43709-1 ]
UniGenei Hs.647063.

3D structure databases

ProteinModelPortali O43709.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125277. 15 interactions.
IntActi O43709. 5 interactions.
MINTi MINT-2999647.
STRINGi 9606.ENSP00000265758.

PTM databases

PhosphoSitei O43709.

Proteomic databases

MaxQBi O43709.
PaxDbi O43709.
PRIDEi O43709.

Protocols and materials databases

DNASUi 114049.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265758 ; ENSP00000265758 ; ENSG00000071462 . [O43709-1 ]
ENST00000423497 ; ENSP00000401191 ; ENSG00000071462 . [O43709-3 ]
GeneIDi 114049.
KEGGi hsa:114049.
UCSCi uc003tyt.3. human. [O43709-1 ]

Organism-specific databases

CTDi 114049.
GeneCardsi GC07P073097.
H-InvDB HIX0006753.
HGNCi HGNC:16405. WBSCR22.
HPAi HPA052185.
MIMi 194050. phenotype.
615733. gene.
neXtProti NX_O43709.
Orphaneti 904. Williams syndrome.
PharmGKBi PA38133.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0500.
GeneTreei ENSGT00390000014737.
HOGENOMi HOG000111527.
HOVERGENi HBG054765.
InParanoidi O43709.
PhylomeDBi O43709.

Miscellaneous databases

ChiTaRSi WBSCR22. human.
GeneWikii WBSCR22.
GenomeRNAii 114049.
NextBioi 78975.
PROi O43709.
SOURCEi Search...

Gene expression databases

Bgeei O43709.
CleanExi HS_WBSCR22.
ExpressionAtlasi O43709. baseline and differential.
Genevestigatori O43709.

Family and domain databases

Gene3Di 3.40.50.150. 1 hit.
InterProi IPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases-like.
IPR022238. Unchr_MeTrfase_Williams-Beuren.
[Graphical view ]
Pfami PF08241. Methyltransf_11. 1 hit.
PF12589. WBS_methylT. 1 hit.
[Graphical view ]
SUPFAMi SSF53335. SSF53335. 1 hit.
ProtoNeti Search...

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.
  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.
    , 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.
    , 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.
    , 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. 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. 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 IN RIBOSOME BIOGENESIS, SUBCELLULAR LOCATION.
  11. "The methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer."
    Jangani M., Poolman T.M., Matthews L., Yang N., Farrow S.N., Berry A., Hanley N., Williamson A.J., Whetton A.D., Donn R., Ray D.W.
    J. Biol. Chem. 289:8931-8946(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS NUCLEAR RECEPTOR COACTIVATOR, INTERACTION WITH GRIP1, PROBABLE UBIQUITINATION, INDUCTION BY TNF AND IFNG, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF LYS-180 AND LYS-196.

Entry informationi

Entry nameiWBS22_HUMAN
AccessioniPrimary (citable) accession number: O43709
Secondary accession number(s): A8K501
, C9K060, Q96P12, Q9BQ58, Q9HBP9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 10, 2002
Last modified: November 26, 2014
This is version 129 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3