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Q8N6Y0

- USBP1_HUMAN

UniProt

Q8N6Y0 - USBP1_HUMAN

Protein

Usher syndrome type-1C protein-binding protein 1

Gene

USHBP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. PDZ domain binding Source: HGNC
    2. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Usher syndrome type-1C protein-binding protein 1
    Short name:
    USH1C-binding protein 1
    Alternative name(s):
    AIE-75-binding protein
    MCC-2
    Mutated in colon cancer protein 2
    Gene namesi
    Name:USHBP1Imported
    Synonyms:AIEBPImported, MCC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:24058. USHBP1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134909077.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 703703Usher syndrome type-1C protein-binding protein 1PRO_0000252109Add
    BLAST

    Proteomic databases

    PaxDbiQ8N6Y0.
    PRIDEiQ8N6Y0.

    PTM databases

    PhosphoSiteiQ8N6Y0.

    Expressioni

    Tissue specificityi

    Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.1 Publication

    Gene expression databases

    ArrayExpressiQ8N6Y0.
    BgeeiQ8N6Y0.
    CleanExiHS_USHBP1.
    GenevestigatoriQ8N6Y0.

    Organism-specific databases

    HPAiHPA052471.

    Interactioni

    Subunit structurei

    Interacts via its C-terminus with the first PDZ domain of USH1C.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BET1O151552EBI-739895,EBI-749204
    EXOC8Q8IYI62EBI-739895,EBI-742102
    NOC4LQ9BVI42EBI-739895,EBI-395927
    SERTAD3Q9UJW94EBI-739895,EBI-748621

    Protein-protein interaction databases

    BioGridi123791. 38 interactions.
    IntActiQ8N6Y0. 43 interactions.
    MINTiMINT-196946.
    STRINGi9606.ENSP00000252597.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N6Y0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili189 – 22739Sequence AnalysisAdd
    BLAST
    Coiled coili289 – 30921Sequence AnalysisAdd
    BLAST
    Coiled coili476 – 51338Sequence AnalysisAdd
    BLAST
    Coiled coili596 – 68186Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MCC family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG27359.
    HOGENOMiHOG000154800.
    HOVERGENiHBG082552.
    InParanoidiQ8N6Y0.
    OMAiYKGRCEG.
    OrthoDBiEOG7F511Q.
    PhylomeDBiQ8N6Y0.
    TreeFamiTF105384.

    Family and domain databases

    InterProiIPR019536. USH1C-bd_PDZ_domain.
    [Graphical view]
    PfamiPF10506. MCC-bdg_PDZ. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 13 Publications (identifier: Q8N6Y0-1) [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

    MSARATRPRS RRGRHAPPGE LDPVAESSEE VEAASGSSKP SFAPPPVSSG    50
    LEQLGPMEEV SGQGLGSRTD KKMDGGSGRE LASAPEVPHK PAVEAHQAPE 100
    AALQYKETVP PGNGAPDVFQ TLQHTLSSLE AAAAAWRHQP PSHSGPMEFE 150
    GTSEGGAGSL GKQEGAGSCQ REAARLAERN AWLRLALSSR EDELVRTQAS 200
    LEAIRAEKET LQKEVQELQD SLLRLEPCPH LSHNQAGGSG SGSSSSEADR 250
    EPWETQDSFS LAHPLLRRLR SHSSTQILGS LPNQPLSPEM HIMEAQMEQL 300
    RGSIEKLKCF NRLLSAVLQG YKGRCEGLSM QLGQREAEAT ALHLALQYSE 350
    HCEEAYRVLL ALREADSGAG DEAPMSDLQA AEKEAWRLLA QEEAAMDAGA 400
    QQNPQPSPEG SSVDKPTPQE VAFQLRSYVQ RLQERRSLMK ILSEPGPTLA 450
    PMPTVPRAEA MVQAILGTQA GPALPRLEKT QIQQDLVAAR EALADLMLRL 500
    QLVRREKRGL ELREAALRAL GPAHVLLLEQ LRWERAELQA GGANSSGGHS 550
    SGGGSSGDEE EWYQGLPAVP GGTSGIDGGQ VGRAWDPEKL AQELAASLTR 600
    TLDLQEQLQS LRRELEQVAQ KGRARRSQSA ELNRDLCKAH SALVLAFRGA 650
    HRKQEEQRRK LEQQMALMEA QQAEEVAVLE ATARALGKPR PPLPPPQLGD 700
    TFL 703
    Length:703
    Mass (Da):76,068
    Last modified:October 1, 2002 - v1
    Checksum:i75BD22E490DC1467
    GO
    Isoform 21 Publication (identifier: Q8N6Y0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         69-703: Missing.

    Note: Due to the retention of an intron in the cDNA leading to a prematurate stop codon.1 Publication

    Show »
    Length:68
    Mass (Da):7,014
    Checksum:i162E3F97D473E257
    GO

    Sequence cautioni

    The sequence BAC11443.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti233 – 2331H → R in BAF84720. (PubMed:14702039)Curated
    Sequence conflicti400 – 4001A → T in BAB41203. (PubMed:11311560)Curated
    Sequence conflicti454 – 4541T → I in BAB41203. (PubMed:11311560)Curated
    Sequence conflicti572 – 5721G → D in BAG37666. (PubMed:14702039)Curated
    Sequence conflicti586 – 5861D → G in BAC11443. (PubMed:15489334)Curated
    Sequence conflicti633 – 6331N → S in BAC11443. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti439 – 4391M → V.1 Publication
    Corresponds to variant rs9676419 [ dbSNP | Ensembl ].
    VAR_027753
    Natural varianti525 – 5251V → M.
    Corresponds to variant rs12459398 [ dbSNP | Ensembl ].
    VAR_027754
    Natural varianti677 – 6771A → V.
    Corresponds to variant rs1043963 [ dbSNP | Ensembl ].
    VAR_051481

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei69 – 703635Missing in isoform 2. 1 PublicationVSP_052080Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB026290 mRNA. Translation: BAB41203.1.
    AB040046 mRNA. Translation: BAB43978.1.
    AK075162 mRNA. Translation: BAC11443.1. Different initiation.
    AK292031 mRNA. Translation: BAF84720.1.
    AK315239 mRNA. Translation: BAG37666.1.
    BC027910 mRNA. Translation: AAH27910.1.
    CCDSiCCDS12353.1. [Q8N6Y0-1]
    RefSeqiNP_114147.2. NM_031941.3. [Q8N6Y0-1]
    XP_005260150.1. XM_005260093.1. [Q8N6Y0-1]
    UniGeneiHs.512773.

    Genome annotation databases

    EnsembliENST00000252597; ENSP00000252597; ENSG00000130307. [Q8N6Y0-1]
    ENST00000597928; ENSP00000469562; ENSG00000130307. [Q8N6Y0-2]
    GeneIDi83878.
    KEGGihsa:83878.
    UCSCiuc002nfs.1. human. [Q8N6Y0-1]

    Polymorphism databases

    DMDMi74729194.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB026290 mRNA. Translation: BAB41203.1 .
    AB040046 mRNA. Translation: BAB43978.1 .
    AK075162 mRNA. Translation: BAC11443.1 . Different initiation.
    AK292031 mRNA. Translation: BAF84720.1 .
    AK315239 mRNA. Translation: BAG37666.1 .
    BC027910 mRNA. Translation: AAH27910.1 .
    CCDSi CCDS12353.1. [Q8N6Y0-1 ]
    RefSeqi NP_114147.2. NM_031941.3. [Q8N6Y0-1 ]
    XP_005260150.1. XM_005260093.1. [Q8N6Y0-1 ]
    UniGenei Hs.512773.

    3D structure databases

    ProteinModelPortali Q8N6Y0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123791. 38 interactions.
    IntActi Q8N6Y0. 43 interactions.
    MINTi MINT-196946.
    STRINGi 9606.ENSP00000252597.

    PTM databases

    PhosphoSitei Q8N6Y0.

    Polymorphism databases

    DMDMi 74729194.

    Proteomic databases

    PaxDbi Q8N6Y0.
    PRIDEi Q8N6Y0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252597 ; ENSP00000252597 ; ENSG00000130307 . [Q8N6Y0-1 ]
    ENST00000597928 ; ENSP00000469562 ; ENSG00000130307 . [Q8N6Y0-2 ]
    GeneIDi 83878.
    KEGGi hsa:83878.
    UCSCi uc002nfs.1. human. [Q8N6Y0-1 ]

    Organism-specific databases

    CTDi 83878.
    GeneCardsi GC19M017360.
    H-InvDB HIX0014884.
    HGNCi HGNC:24058. USHBP1.
    HPAi HPA052471.
    MIMi 611810. gene.
    neXtProti NX_Q8N6Y0.
    PharmGKBi PA134909077.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG27359.
    HOGENOMi HOG000154800.
    HOVERGENi HBG082552.
    InParanoidi Q8N6Y0.
    OMAi YKGRCEG.
    OrthoDBi EOG7F511Q.
    PhylomeDBi Q8N6Y0.
    TreeFami TF105384.

    Miscellaneous databases

    GenomeRNAii 83878.
    NextBioi 35464446.
    PROi Q8N6Y0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N6Y0.
    Bgeei Q8N6Y0.
    CleanExi HS_USHBP1.
    Genevestigatori Q8N6Y0.

    Family and domain databases

    InterProi IPR019536. USH1C-bd_PDZ_domain.
    [Graphical view ]
    Pfami PF10506. MCC-bdg_PDZ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75."
      Ishikawa S., Kobayashi I., Hamada J., Tada M., Hirai A., Furuuchi K., Takahashi Y., Ba Y., Moriuchi T.
      Gene 267:101-110(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH USH1C, TISSUE SPECIFICITY, VARIANT VAL-439.
      Tissue: KidneyImported and PlacentaImported.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: PlacentaImported and Spleen.
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

    Entry informationi

    Entry nameiUSBP1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N6Y0
    Secondary accession number(s): A8K7L6
    , B2RCR9, Q8NBX7, Q96KH3, Q9BYI8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 86 of the entry and version 1 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 19
      Human chromosome 19: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3