Q8N6F8 (WBS27_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Williams-Beuren syndrome chromosomal region 27 protein

Gene names

Name:

WBSCR27

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	245 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Involvement in disease

Note=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 diversity	Polymorphism
Disease	Williams-Beuren syndrome
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 245	245	Williams-Beuren syndrome chromosomal region 27 protein		PRO_0000223961
Natural variations
	Natural variant	107	1	Q → R. Ref.1 Ref.2 Ref.4 Corresponds to variant rs13241921 [ dbSNP | Ensembl ].		VAR_060385
	Natural variant	171	1	S → W. Ref.1 Ref.2 Ref.4 Corresponds to variant rs13232463 [ dbSNP | Ensembl ].		VAR_060386
Experimental info
	Sequence conflict	216	1	R → W in AAN63884. Ref.1
	Sequence conflict	216	1	R → W in AAQ55828. Ref.2
	Sequence conflict	216	1	R → W in AAH30295. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q8N6F8 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: B63EAA80942533F7	FASTA	245	26,522
	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

References

	« Hide 'large scale' referencesShow '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: 18398435] [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. , 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: 12853948] [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: 15489334] [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.
IPI	IPI00167004.
RefSeq	NP_689772.2. NM_152559.2.
UniGene	Hs.647042.
3D structure databases
ProteinModelPortal	Q8N6F8.
SMR	Q8N6F8. Positions 26-196.
ModBase	Search...
Polymorphism databases
DMDM	296453033.
Proteomic databases
PRIDE	Q8N6F8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297873; ENSP00000297873; ENSG00000165171.
GeneID	155368.
KEGG	hsa:155368.
UCSC	uc003tzj.1. human.
Organism-specific databases
CTD	155368.
GeneCards	GC07M073248.
HGNC	HGNC:19068. WBSCR27.
HPA	HPA022420.
MIM	612546. gene.
neXtProt	NX_Q8N6F8.
Orphanet	904. Williams syndrome.
PharmGKB	PA134905115.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19987.
GeneTree	ENSGT00530000063975.
HOGENOM	HBG715898.
HOVERGEN	HBG062105.
InParanoid	Q8N6F8.
OMA	DVAALQY.
OrthoDB	EOG434W6V.
PhylomeDB	Q8N6F8.
Gene expression databases
ArrayExpress	Q8N6F8.
Bgee	Q8N6F8.
CleanEx	HS_WBSCR27.
Genevestigator	Q8N6F8.
GermOnline	ENSG00000165171. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	87394.
SOURCE	Search...

Entry information

Entry name

WBS27_HUMAN

Accession

Primary (citable) accession number: Q8N6F8

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2006
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 63 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.