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Q8N6F8 (WBS27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Williams-Beuren syndrome chromosomal region 27 protein
Gene names
Name:WBSCR27
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length245 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Involvement in disease

WBSCR27 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 WBSCR27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseWilliams-Beuren syndrome
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 245245Williams-Beuren syndrome chromosomal region 27 protein
PRO_0000223961

Natural variations

Natural variant1071Q → R. Ref.1 Ref.2 Ref.4
Corresponds to variant rs13241921 [ dbSNP | Ensembl ].
VAR_060385
Natural variant1711S → W. Ref.1 Ref.2 Ref.4
Corresponds to variant rs13232463 [ dbSNP | Ensembl ].
VAR_060386

Experimental info

Sequence conflict2161R → W in AAN63884. Ref.1
Sequence conflict2161R → W in AAQ55828. Ref.2
Sequence conflict2161R → W in AAH30295. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8N6F8 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: B63EAA80942533F7

FASTA24526,522
        10         20         30         40         50         60 
MAQEEGGSLP EVRARVRAAH GIPDLAQKLH FYDRWAPDYD QDVATLLYRA PRLAVDCLTQ 

        70         80         90        100        110        120 
ALPGPPHSAL ILDVACGTGL VAAELRAPGF LQLHGVDGSP GMLEQAQAPG LYQRLSLCTL 

       130        140        150        160        170        180 
GQEPLPSPEG TFDAVLIVGA LSDGQVPCNA IPELHVTKPG GLVCLTTRTN SSNLQYKEAL 

       190        200        210        220        230        240 
EATLDRLEQA GMWEGLVAWP VDRLWTAGSW LPPSWRWYPA SLPRMASSPA LSTCTESGRR 


PRLRK 

« Hide

References

« Hide 'large scale' references
[1]"Genes deleted in Williams-Beuren Syndrome."
Tassabehji M.
Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-107 AND TRP-171.
[2]"Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase."
Micale L., Fusco C., Augello B., Napolitano L.M.R., Dermitzakis E.T., Meroni G., Merla G., Reymond A.
Eur. J. Hum. Genet. 16:1038-1049(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-107 AND TRP-171.
[3]"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].
[4]"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], VARIANTS ARG-107 AND TRP-171.
Tissue: Mammary gland.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF534110 mRNA. Translation: AAN63884.1.
AY354928 mRNA. Translation: AAQ55828.1.
AC093168 Genomic DNA. No translation available.
BC030295 mRNA. Translation: AAH30295.1.
CCDSCCDS5561.1.
RefSeqNP_689772.2. NM_152559.2.
UniGeneHs.647042.

3D structure databases

ProteinModelPortalQ8N6F8.
SMRQ8N6F8. Positions 50-172.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127581. 3 interactions.
IntActQ8N6F8. 2 interactions.
MINTMINT-8417729.
STRING9606.ENSP00000297873.

PTM databases

PhosphoSiteQ8N6F8.

Polymorphism databases

DMDM296453033.

Proteomic databases

PaxDbQ8N6F8.
PRIDEQ8N6F8.

Protocols and materials databases

DNASU155368.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297873; ENSP00000297873; ENSG00000165171.
ENST00000575648; ENSP00000458641; ENSG00000262499.
GeneID155368.
KEGGhsa:155368.
UCSCuc003tzj.2. human.

Organism-specific databases

CTD155368.
GeneCardsGC07M073248.
H-InvDBHIX0006759.
HGNCHGNC:19068. WBSCR27.
HPAHPA022420.
MIM612546. gene.
neXtProtNX_Q8N6F8.
Orphanet904. Williams syndrome.
PharmGKBPA134905115.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293694.
HOGENOMHOG000030902.
HOVERGENHBG062105.
InParanoidQ8N6F8.
OMALHFYDRW.
PhylomeDBQ8N6F8.
TreeFamTF329435.

Gene expression databases

ArrayExpressQ8N6F8.
BgeeQ8N6F8.
CleanExHS_WBSCR27.
GenevestigatorQ8N6F8.

Family and domain databases

Gene3D3.40.50.150. 1 hit.
InterProIPR029063. SAM-dependent_MTases-like.
[Graphical view]
SUPFAMSSF53335. SSF53335. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi155368.
NextBio87394.
PROQ8N6F8.
SOURCESearch...

Entry information

Entry nameWBS27_HUMAN
AccessionPrimary (citable) accession number: Q8N6F8
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 86 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

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

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