Q6UE05 (WBS28_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Williams-Beuren syndrome chromosomal region 28 protein

Gene names

Name:

WBSCR28

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	265 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence caution	The sequence AAQ74836.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6UE05-1)

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: Q6UE05-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-60: LVQNRDHLYNFLLLKINLFNHWVSGLAQEARGSCNW → RQGLALSPSLERSGAGSARCSLQLPVSSNPPPSASK
     61-265: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 265	265	Williams-Beuren syndrome chromosomal region 28 protein		PRO_0000308415
Regions
	Transmembrane	72 – 92	21	Helical; Potential
	Transmembrane	130 – 150	21	Helical; Potential
	Transmembrane	185 – 205	21	Helical; Potential
Natural variations
	Alternative sequence	25 – 60	36	LVQNR…GSCNW → RQGLALSPSLERSGAGSARC SLQLPVSSNPPPSASK in isoform 2.		VSP_039997
	Alternative sequence	61 – 265	205	Missing in isoform 2.		VSP_039998
	Natural variant	14	1	I → N. Ref.1 Ref.3 Corresponds to variant rs11770052 [ dbSNP | Ensembl ].		VAR_036813
	Natural variant	67	1	G → V. Corresponds to variant rs56933025 [ dbSNP | Ensembl ].		VAR_061720
	Natural variant	70	1	A → D. Ref.3 Corresponds to variant rs17852792 [ dbSNP | Ensembl ].		VAR_036814
	Natural variant	78	1	W → R. Ref.1 Ref.3 Corresponds to variant rs13227841 [ dbSNP | Ensembl ].		VAR_036815

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 2. Checksum: 2C1169A4F43AE708	FASTA	265	29,433
	10 20 30 40 50 60 MEALPPVRSS LLGILLQVTR LSVLLVQNRD HLYNFLLLKI NLFNHWVSGL AQEARGSCNW 70 80 90 100 110 120 QAHLPLGAAA CPLGQALWAG LALIQVPVWL VLQGPRLMWA GMWGSTKGLG LALLSAWEQL 130 140 150 160 170 180 GLSVAIWTDL FLSCLHGLML VALLLVVVTW RVCQKSHCFR LGRQLSKALQ VNCVVRKLLV 190 200 210 220 230 240 QLRRLYWWVE TMTALTSWHL AYLITWTTCL ASHLLQAAFE HTTQLAEAQE VEPQEVSGSS 250 260 LLPSLSASSD SESGTVLPEQ ETPRE
	Isoform 2 [UniParc]. Checksum: 00CD21C1FC6F4849	FASTA	60	6,195
	10 20 30 40 50 60 MEALPPVRSS LLGILLQVTR LSVLRQGLAL SPSLERSGAG SARCSLQLPV SSNPPPSASK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 14-265 (ISOFORM 2), VARIANTS ASN-14 AND ARG-78.
[2]	"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].
[3]	"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] (ISOFORM 1), VARIANTS ASN-14; ASP-70 AND ARG-78. Tissue: Testis.
[4]	Arakawa T., Carninci P., Fukuda S., Hasegawa A., Hayashida K., Hori F., Kai C., Kawai J., Kojima M., Murata M., Nakamura M., Nishiyori H., Nomura K., Ohno M., Sasaki D., Shibazaki E., Tagami M., Tagami Y., Hayashizaki Y. Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY372053 mRNA. Translation: AAQ74835.1. AY372054 mRNA. Translation: AAQ74836.1. Sequence problems. AC093168 Genomic DNA. No translation available. BC030643 mRNA. Translation: AAH30643.1. DB455624 mRNA. No translation available.
IPI	IPI00169282. IPI00868838.
RefSeq	NP_872310.2. NM_182504.3.
UniGene	Hs.647026.
3D structure databases
ProteinModelPortal	Q6UE05.
ModBase	Search...
Polymorphism databases
DMDM	160221324.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320531; ENSP00000316775; ENSG00000175877.
GeneID	135886.
KEGG	hsa:135886.
NMPDR	fig|9606.3.peg.28778.
UCSC	uc003tzk.2. human. uc003tzl.2. human.
Organism-specific databases
CTD	135886.
GeneCards	GC07P073275.
HGNC	HGNC:23018. WBSCR28.
MIM	612547. gene.
neXtProt	NX_Q6UE05.
PharmGKB	PA145147726.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14411.
GeneTree	ENSGT00390000009243.
HOVERGEN	HBG097748.
InParanoid	Q6UE05.
OMA	RLYWWVE.
OrthoDB	EOG4BG8X7.
PhylomeDB	Q6UE05.
Gene expression databases
ArrayExpress	Q6UE05.
Bgee	Q6UE05.
CleanEx	HS_WBSCR28.
Genevestigator	Q6UE05.
Family and domain databases
ProtoNet	Search...
Other
NextBio	83502.
SOURCE	Search...

Entry information

Entry name

WBS28_HUMAN

Accession

Primary (citable) accession number: Q6UE05
Secondary accession number(s): Q6UE04, Q8NHP4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	October 23, 2007
Last modified:	January 25, 2012
This is version 53 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.