O43709 (WBS22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	281 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Methyltransferase that may act on DNA.
Subcellular location	Nucleus Potential.
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
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Williams-Beuren syndrome
Molecular function	Methyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	methyltransferase activity Non-traceable author statement Ref.2. 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 281	281	Uncharacterized methyltransferase WBSCR22		PRO_0000204450
Natural variations
	Alternative sequence	171 – 281	111	LELIT…RKPRF → VSPSATGCAGELGDSTGKLS WGSDKESYADWREKEETCTL VWPLMAHLMT in isoform 2.		VSP_011511

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 10, 2002. Version 2. Checksum: B090B5F0A156B36A	FASTA	281	31,880
	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
	Isoform 2 [UniParc]. Checksum: 834E91DBD30FA33A	FASTA	220	24,360
	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 VSPSATGCAG 190 200 210 220 ELGDSTGKLS WGSDKESYAD WREKEETCTL VWPLMAHLMT

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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].

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.
IPI	IPI00013810. IPI00456055.
RefSeq	NP_001189489.1. NM_001202560.2. NP_059998.2. NM_017528.4.
UniGene	Hs.647063.
3D structure databases
ProteinModelPortal	O43709.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43709. 5 interactions.
STRING	9606.ENSP00000265758.
PTM databases
PhosphoSite	O43709.
Proteomic databases
PaxDb	O43709.
PRIDE	O43709.
Protocols and materials databases
DNASU	114049.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265758; ENSP00000265758; ENSG00000071462. ENST00000574150; ENSP00000461671; ENSG00000262030.
GeneID	114049.
KEGG	hsa:114049.
UCSC	uc003tyt.3. human.
Organism-specific databases
CTD	114049.
GeneCards	GC07P073097.
H-InvDB	HIX0006753.
HGNC	HGNC:16405. WBSCR22.
HPA	HPA052185.
MIM	194050. phenotype.
neXtProt	NX_O43709.
Orphanet	904. Williams syndrome.
PharmGKB	PA38133.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0500.
HOGENOM	HOG000111527.
HOVERGEN	HBG054765.
InParanoid	O43709.
KO	K00599.
OrthoDB	EOG44MXST.
PhylomeDB	O43709.
Gene expression databases
ArrayExpress	O43709.
Bgee	O43709.
CleanEx	HS_WBSCR22.
Genevestigator	O43709.
GermOnline	ENSG00000071462. Homo sapiens.
Family and domain databases
InterPro	IPR013216. Methyltransf_11. IPR022238. Unchr_MeTrfase_Williams-Beuren. [Graphical view]
Pfam	PF08241. Methyltransf_11. 1 hit. PF12589. WBS_methylT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	WBSCR22. human.
GenomeRNAi	114049.
NextBio	78975.
SOURCE	Search...

Entry information

Entry name

WBS22_HUMAN

Accession

Primary (citable) accession number: O43709
Secondary accession number(s): A8K501 , Q96P12, Q9BQ58, Q9HBP9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	October 10, 2002
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.