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Q8N6F8

- WBS27_HUMAN

UniProt

Q8N6F8 - WBS27_HUMAN

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Protein

Williams-Beuren syndrome chromosomal region 27 protein

Gene

WBSCR27

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

Names & Taxonomyi

Protein namesi
Recommended name:
Williams-Beuren syndrome chromosomal region 27 protein
Gene namesi
Name:WBSCR27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:19068. WBSCR27.

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

Orphaneti904. Williams syndrome.
PharmGKBiPA134905115.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 245245Williams-Beuren syndrome chromosomal region 27 proteinPRO_0000223961Add
BLAST

Proteomic databases

PaxDbiQ8N6F8.
PRIDEiQ8N6F8.

PTM databases

PhosphoSiteiQ8N6F8.

Expressioni

Gene expression databases

BgeeiQ8N6F8.
CleanExiHS_WBSCR27.
ExpressionAtlasiQ8N6F8. baseline and differential.
GenevestigatoriQ8N6F8.

Organism-specific databases

HPAiHPA022420.

Interactioni

Protein-protein interaction databases

BioGridi127581. 3 interactions.
IntActiQ8N6F8. 2 interactions.
MINTiMINT-8417729.
STRINGi9606.ENSP00000297873.

Structurei

3D structure databases

ProteinModelPortaliQ8N6F8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG293694.
GeneTreeiENSGT00530000063975.
HOGENOMiHOG000030902.
HOVERGENiHBG062105.
InParanoidiQ8N6F8.
OMAiLHFYDRW.
PhylomeDBiQ8N6F8.
TreeFamiTF329435.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR029063. SAM-dependent_MTases-like.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8N6F8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAQEEGGSLP EVRARVRAAH GIPDLAQKLH FYDRWAPDYD QDVATLLYRA
60 70 80 90 100
PRLAVDCLTQ ALPGPPHSAL ILDVACGTGL VAAELRAPGF LQLHGVDGSP
110 120 130 140 150
GMLEQAQAPG LYQRLSLCTL GQEPLPSPEG TFDAVLIVGA LSDGQVPCNA
160 170 180 190 200
IPELHVTKPG GLVCLTTRTN SSNLQYKEAL EATLDRLEQA GMWEGLVAWP
210 220 230 240
VDRLWTAGSW LPPSWRWYPA SLPRMASSPA LSTCTESGRR PRLRK
Length:245
Mass (Da):26,522
Last modified:May 18, 2010 - v2
Checksum:iB63EAA80942533F7
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti216 – 2161R → W in AAN63884. 1 PublicationCurated
Sequence conflicti216 – 2161R → W in AAQ55828. (PubMed:18398435)Curated
Sequence conflicti216 – 2161R → W in AAH30295. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071Q → R.3 Publications
Corresponds to variant rs13241921 [ dbSNP | Ensembl ].
VAR_060385
Natural varianti171 – 1711S → W.3 Publications
Corresponds to variant rs13232463 [ dbSNP | Ensembl ].
VAR_060386

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF534110 mRNA. Translation: AAN63884.1.
AY354928 mRNA. Translation: AAQ55828.1.
AC093168 Genomic DNA. No translation available.
BC030295 mRNA. Translation: AAH30295.1.
CCDSiCCDS5561.1.
RefSeqiNP_689772.2. NM_152559.2.
UniGeneiHs.647042.

Genome annotation databases

EnsembliENST00000297873; ENSP00000297873; ENSG00000165171.
GeneIDi155368.
KEGGihsa:155368.
UCSCiuc003tzj.2. human.

Polymorphism databases

DMDMi296453033.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF534110 mRNA. Translation: AAN63884.1 .
AY354928 mRNA. Translation: AAQ55828.1 .
AC093168 Genomic DNA. No translation available.
BC030295 mRNA. Translation: AAH30295.1 .
CCDSi CCDS5561.1.
RefSeqi NP_689772.2. NM_152559.2.
UniGenei Hs.647042.

3D structure databases

ProteinModelPortali Q8N6F8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127581. 3 interactions.
IntActi Q8N6F8. 2 interactions.
MINTi MINT-8417729.
STRINGi 9606.ENSP00000297873.

PTM databases

PhosphoSitei Q8N6F8.

Polymorphism databases

DMDMi 296453033.

Proteomic databases

PaxDbi Q8N6F8.
PRIDEi Q8N6F8.

Protocols and materials databases

DNASUi 155368.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000297873 ; ENSP00000297873 ; ENSG00000165171 .
GeneIDi 155368.
KEGGi hsa:155368.
UCSCi uc003tzj.2. human.

Organism-specific databases

CTDi 155368.
GeneCardsi GC07M073248.
H-InvDB HIX0006759.
HGNCi HGNC:19068. WBSCR27.
HPAi HPA022420.
MIMi 612546. gene.
neXtProti NX_Q8N6F8.
Orphaneti 904. Williams syndrome.
PharmGKBi PA134905115.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293694.
GeneTreei ENSGT00530000063975.
HOGENOMi HOG000030902.
HOVERGENi HBG062105.
InParanoidi Q8N6F8.
OMAi LHFYDRW.
PhylomeDBi Q8N6F8.
TreeFami TF329435.

Miscellaneous databases

GenomeRNAii 155368.
NextBioi 87394.
PROi Q8N6F8.
SOURCEi Search...

Gene expression databases

Bgeei Q8N6F8.
CleanExi HS_WBSCR27.
ExpressionAtlasi Q8N6F8. baseline and differential.
Genevestigatori Q8N6F8.

Family and domain databases

Gene3Di 3.40.50.150. 1 hit.
InterProi IPR029063. SAM-dependent_MTases-like.
[Graphical view ]
SUPFAMi SSF53335. SSF53335. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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] [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.

Entry informationi

Entry nameiWBS27_HUMAN
AccessioniPrimary (citable) accession number: Q8N6F8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 88 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

External Data

Dasty 3