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Q8N6F8

- WBS27_HUMAN

UniProt

Q8N6F8 - WBS27_HUMAN

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
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    ArrayExpressiQ8N6F8.
    BgeeiQ8N6F8.
    CleanExiHS_WBSCR27.
    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.
    SMRiQ8N6F8. Positions 50-172.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG293694.
    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

    MAQEEGGSLP EVRARVRAAH GIPDLAQKLH FYDRWAPDYD QDVATLLYRA    50
    PRLAVDCLTQ ALPGPPHSAL ILDVACGTGL VAAELRAPGF LQLHGVDGSP 100
    GMLEQAQAPG LYQRLSLCTL GQEPLPSPEG TFDAVLIVGA LSDGQVPCNA 150
    IPELHVTKPG GLVCLTTRTN SSNLQYKEAL EATLDRLEQA GMWEGLVAWP 200
    VDRLWTAGSW LPPSWRWYPA SLPRMASSPA LSTCTESGRR PRLRK 245
    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.
    SMRi Q8N6F8. Positions 50-172.
    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.
    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

    ArrayExpressi Q8N6F8.
    Bgeei Q8N6F8.
    CleanExi HS_WBSCR27.
    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

    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 1, 2014
    This is version 87 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