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O43709

- WBS22_HUMAN

UniProt

O43709 - WBS22_HUMAN

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Protein
Williams-Beuren syndrome chromosomal region 22 protein
Gene
WBSCR22, MERM1, HUSSY-03, PP3381
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 (1 Publication). May be involved in the processing of 18S pre-rRNAs and biosynthesis of 40S ribosomal subunit.2 Publications

GO - Molecular functioni

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

GO - Biological processi

  1. rRNA processing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Ribosome biogenesis, rRNA processing, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Williams-Beuren syndrome chromosomal region 22 protein
Alternative name(s):
Metastasis-related methyltransferase 1
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. Cytoplasm
Note: Localized diffusely throughout the nucleus and the cytoplasm. Localization is not affected by glucocorticoid treatment.2 Publications

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
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 – 281281Williams-Beuren syndrome chromosomal region 22 protein
PRO_0000204450Add
BLAST

Post-translational modificationi

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

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

ArrayExpressiO43709.
BgeeiO43709.
CleanExiHS_WBSCR22.
GenevestigatoriO43709.

Organism-specific databases

HPAiHPA052185.

Interactioni

Subunit structurei

Interacts with GRIP1.1 Publication

Protein-protein interaction databases

BioGridi125277. 12 interactions.
IntActiO43709. 5 interactions.
MINTiMINT-2999647.
STRINGi9606.ENSP00000265758.

Structurei

3D structure databases

ProteinModelPortaliO43709.
SMRiO43709. Positions 53-164.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0500.
HOGENOMiHOG000111527.
HOVERGENiHBG054765.
InParanoidiO43709.
KOiK00599.
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

MASRGRRPEH GGPPELFYDE TEARKYVRNS RMIDIQTRMA GRALELLYLP    50
ENKPCYLLDI GCGTGLSGSY LSDEGHYWVG LDISPAMLDE AVDREIEGDL 100
LLGDMGQGIP FKPGTFDGCI SISAVQWLCN ANKKSENPAK RLYCFFASLF 150
SVLVRGSRAV LQLYPENSEQ LELITTQATK AGFSGGMVVD YPNSAKAKKF 200
YLCLFSGPST FIPEGLSENQ DEVEPRESVF TNERFPLRMS RRGMVRKSRA 250
WVLEKKERHR RQGREVRPDT QYTGRKRKPR F 281
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei171 – 281111LELIT…RKPRF → VSPSATGCAGELGDSTGKLS WGSDKESYADWREKEETCTL VWPLMAHLMT in isoform 2.
VSP_011511Add
BLAST
Alternative sequencei233 – 2331E → EREGGAFERRGIRGHQTR in isoform 3.
VSP_054762

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000574150; ENSP00000461671; ENSG00000262030. [O43709-1]
GeneIDi114049.
KEGGihsa:114049.
UCSCiuc003tyt.3. human. [O43709-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
SMRi O43709. Positions 53-164.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125277. 12 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 .
ENST00000574150 ; ENSP00000461671 ; ENSG00000262030 . [O43709-1 ]
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.
HOGENOMi HOG000111527.
HOVERGENi HBG054765.
InParanoidi O43709.
KOi K00599.
PhylomeDBi O43709.

Miscellaneous databases

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

Gene expression databases

ArrayExpressi O43709.
Bgeei O43709.
CleanExi HS_WBSCR22.
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: September 3, 2014
This is version 126 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

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