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Protein

Williams-Beuren syndrome chromosomal region 28 protein

Gene

WBSCR28

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Williams-Beuren syndrome chromosomal region 28 protein
Gene namesi
Name:WBSCR28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:23018. WBSCR28.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei72 – 9221HelicalSequence analysisAdd
BLAST
Transmembranei130 – 15021HelicalSequence analysisAdd
BLAST
Transmembranei185 – 20521HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145147726.

Polymorphism and mutation databases

BioMutaiWBSCR28.
DMDMi160221324.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 265265Williams-Beuren syndrome chromosomal region 28 proteinPRO_0000308415Add
BLAST

Proteomic databases

PaxDbiQ6UE05.
PRIDEiQ6UE05.

PTM databases

iPTMnetiQ6UE05.
PhosphoSiteiQ6UE05.

Expressioni

Gene expression databases

BgeeiENSG00000175877.
CleanExiHS_WBSCR28.
GenevisibleiQ6UE05. HS.

Interactioni

Protein-protein interaction databases

BioGridi126434. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ6UE05.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IW1Q. Eukaryota.
ENOG4111CPR. LUCA.
GeneTreeiENSGT00390000009243.
HOGENOMiHOG000154841.
HOVERGENiHBG097748.
InParanoidiQ6UE05.
OMAiFNHWVSG.
OrthoDBiEOG091G0V1D.
PhylomeDBiQ6UE05.
TreeFamiTF337697.

Family and domain databases

InterProiIPR029166. WBS28.
[Graphical view]
PfamiPF15164. WBS28. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UE05-1) [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

        10         20         30         40         50
MEALPPVRSS LLGILLQVTR LSVLLVQNRD HLYNFLLLKI NLFNHWVSGL
60 70 80 90 100
AQEARGSCNW QAHLPLGAAA CPLGQALWAG LALIQVPVWL VLQGPRLMWA
110 120 130 140 150
GMWGSTKGLG LALLSAWEQL GLSVAIWTDL FLSCLHGLML VALLLVVVTW
160 170 180 190 200
RVCQKSHCFR LGRQLSKALQ VNCVVRKLLV QLRRLYWWVE TMTALTSWHL
210 220 230 240 250
AYLITWTTCL ASHLLQAAFE HTTQLAEAQE VEPQEVSGSS LLPSLSASSD
260
SESGTVLPEQ ETPRE
Length:265
Mass (Da):29,433
Last modified:October 23, 2007 - v2
Checksum:i2C1169A4F43AE708
GO
Isoform 2 (identifier: Q6UE05-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:60
Mass (Da):6,195
Checksum:i00CD21C1FC6F4849
GO

Sequence cautioni

The sequence AAQ74836 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141I → N.2 Publications
Corresponds to variant rs11770052 [ dbSNP | Ensembl ].
VAR_036813
Natural varianti67 – 671G → V.
Corresponds to variant rs56933025 [ dbSNP | Ensembl ].
VAR_061720
Natural varianti70 – 701A → D.1 Publication
Corresponds to variant rs17852792 [ dbSNP | Ensembl ].
VAR_036814
Natural varianti78 – 781W → R.2 Publications
Corresponds to variant rs13227841 [ dbSNP | Ensembl ].
VAR_036815

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 6036LVQNR…GSCNW → RQGLALSPSLERSGAGSARC SLQLPVSSNPPPSASK in isoform 2. 2 PublicationsVSP_039997Add
BLAST
Alternative sequencei61 – 265205Missing in isoform 2. 2 PublicationsVSP_039998Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43597.1. [Q6UE05-1]
RefSeqiNP_872310.2. NM_182504.3. [Q6UE05-1]
XP_011514087.1. XM_011515785.2.
UniGeneiHs.647026.

Genome annotation databases

EnsembliENST00000320531; ENSP00000316775; ENSG00000175877. [Q6UE05-1]
ENST00000426490; ENSP00000403621; ENSG00000175877. [Q6UE05-2]
GeneIDi135886.
KEGGihsa:135886.
UCSCiuc003tzk.2. human. [Q6UE05-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43597.1. [Q6UE05-1]
RefSeqiNP_872310.2. NM_182504.3. [Q6UE05-1]
XP_011514087.1. XM_011515785.2.
UniGeneiHs.647026.

3D structure databases

ProteinModelPortaliQ6UE05.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126434. 1 interaction.

PTM databases

iPTMnetiQ6UE05.
PhosphoSiteiQ6UE05.

Polymorphism and mutation databases

BioMutaiWBSCR28.
DMDMi160221324.

Proteomic databases

PaxDbiQ6UE05.
PRIDEiQ6UE05.

Protocols and materials databases

DNASUi135886.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320531; ENSP00000316775; ENSG00000175877. [Q6UE05-1]
ENST00000426490; ENSP00000403621; ENSG00000175877. [Q6UE05-2]
GeneIDi135886.
KEGGihsa:135886.
UCSCiuc003tzk.2. human. [Q6UE05-1]

Organism-specific databases

CTDi135886.
GeneCardsiWBSCR28.
H-InvDBHIX0006760.
HGNCiHGNC:23018. WBSCR28.
MIMi612547. gene.
neXtProtiNX_Q6UE05.
PharmGKBiPA145147726.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IW1Q. Eukaryota.
ENOG4111CPR. LUCA.
GeneTreeiENSGT00390000009243.
HOGENOMiHOG000154841.
HOVERGENiHBG097748.
InParanoidiQ6UE05.
OMAiFNHWVSG.
OrthoDBiEOG091G0V1D.
PhylomeDBiQ6UE05.
TreeFamiTF337697.

Miscellaneous databases

GenomeRNAii135886.
PROiQ6UE05.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175877.
CleanExiHS_WBSCR28.
GenevisibleiQ6UE05. HS.

Family and domain databases

InterProiIPR029166. WBS28.
[Graphical view]
PfamiPF15164. WBS28. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWBS28_HUMAN
AccessioniPrimary (citable) accession number: Q6UE05
Secondary accession number(s): Q6UE04, Q8NHP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: September 7, 2016
This is version 83 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.