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Q9UPM9

- B9D1_HUMAN

UniProt

Q9UPM9 - B9D1_HUMAN

Protein

B9 domain-containing protein 1

Gene

B9D1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity.By similarity

    GO - Molecular functioni

    1. hedgehog receptor activity Source: UniProtKB

    GO - Biological processi

    1. camera-type eye development Source: Ensembl
    2. cardiocyte differentiation Source: Ensembl
    3. cilium assembly Source: UniProtKB
    4. cilium morphogenesis Source: UniProtKB
    5. embryonic digit morphogenesis Source: Ensembl
    6. in utero embryonic development Source: Ensembl
    7. neuroepithelial cell differentiation Source: Ensembl
    8. regulation of protein localization Source: Ensembl
    9. smoothened signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    B9 domain-containing protein 1
    Alternative name(s):
    MKS1-related protein 1
    Gene namesi
    Name:B9D1
    Synonyms:MKSR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24123. B9D1.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body 1 Publication. Cytoplasmcytoskeletoncilium axoneme 1 Publication
    Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. ciliary basal body Source: UniProtKB
    3. ciliary transition zone Source: UniProtKB
    4. cytoplasm Source: UniProtKB-KW
    5. membrane Source: Ensembl
    6. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Meckel syndrome 9 (MKS9) [MIM:614209]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Meckel syndrome

    Organism-specific databases

    MIMi614209. phenotype.
    Orphaneti564. Meckel syndrome.
    PharmGKBiPA162377328.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 204204B9 domain-containing protein 1PRO_0000307667Add
    BLAST

    Proteomic databases

    MaxQBiQ9UPM9.
    PaxDbiQ9UPM9.
    PRIDEiQ9UPM9.

    PTM databases

    PhosphoSiteiQ9UPM9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UPM9.
    BgeeiQ9UPM9.
    CleanExiHS_B9D1.
    GenevestigatoriQ9UPM9.

    Organism-specific databases

    HPAiHPA022957.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex).By similarity

    Protein-protein interaction databases

    BioGridi117986. 4 interactions.
    IntActiQ9UPM9. 1 interaction.
    STRINGi9606.ENSP00000261499.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UPM9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini9 – 127119B9PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the B9D family.Curated
    Contains 1 B9 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG271150.
    HOGENOMiHOG000038832.
    HOVERGENiHBG104431.
    InParanoidiQ9UPM9.
    KOiK16744.
    OMAiWPQLVVS.
    PhylomeDBiQ9UPM9.
    TreeFamiTF314883.

    Family and domain databases

    InterProiIPR010796. B9_dom.
    [Graphical view]
    PfamiPF07162. B9-C2. 1 hit.
    [Graphical view]
    PROSITEiPS51381. B9. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UPM9-1) [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

    MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI    50
    SQITSKSQDV RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV 100
    RGYGAVHVPF SPGRHKRTIP MFVPESTSKL QKFTSWFMGR RPEYTDPKVV 150
    AQGEGREVTR VRSQGFVTLL FNVVTKDMRK LGYDTGPSDT QGVLGPSPPQ 200
    SFPQ 204
    Length:204
    Mass (Da):22,775
    Last modified:May 1, 2000 - v1
    Checksum:i6F09A3152F48CE42
    GO
    Isoform 2 (identifier: Q9UPM9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         136-204: WFMGRRPEYT...GPSPPQSFPQ → LCLVASSDLQAAPPTEDK

    Note: No experimental confirmation available.

    Show »
    Length:153
    Mass (Da):16,919
    Checksum:i261E68117FADB3DB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611R → W.1 Publication
    Corresponds to variant rs73980038 [ dbSNP | Ensembl ].
    VAR_066995

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei136 – 20469WFMGR…QSFPQ → LCLVASSDLQAAPPTEDK in isoform 2. 1 PublicationVSP_028770Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB030506 mRNA. Translation: BAA82655.1.
    BC002944 mRNA. Translation: AAH02944.1.
    CCDSiCCDS11205.1. [Q9UPM9-1]
    RefSeqiNP_056496.1. NM_015681.3. [Q9UPM9-1]
    XP_005256666.1. XM_005256609.1. [Q9UPM9-2]
    UniGeneiHs.462445.

    Genome annotation databases

    EnsembliENST00000261499; ENSP00000261499; ENSG00000108641. [Q9UPM9-1]
    ENST00000268841; ENSP00000268841; ENSG00000108641. [Q9UPM9-2]
    GeneIDi27077.
    KEGGihsa:27077.
    UCSCiuc002gvk.4. human. [Q9UPM9-1]

    Polymorphism databases

    DMDMi74725691.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB030506 mRNA. Translation: BAA82655.1 .
    BC002944 mRNA. Translation: AAH02944.1 .
    CCDSi CCDS11205.1. [Q9UPM9-1 ]
    RefSeqi NP_056496.1. NM_015681.3. [Q9UPM9-1 ]
    XP_005256666.1. XM_005256609.1. [Q9UPM9-2 ]
    UniGenei Hs.462445.

    3D structure databases

    ProteinModelPortali Q9UPM9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117986. 4 interactions.
    IntActi Q9UPM9. 1 interaction.
    STRINGi 9606.ENSP00000261499.

    PTM databases

    PhosphoSitei Q9UPM9.

    Polymorphism databases

    DMDMi 74725691.

    Proteomic databases

    MaxQBi Q9UPM9.
    PaxDbi Q9UPM9.
    PRIDEi Q9UPM9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261499 ; ENSP00000261499 ; ENSG00000108641 . [Q9UPM9-1 ]
    ENST00000268841 ; ENSP00000268841 ; ENSG00000108641 . [Q9UPM9-2 ]
    GeneIDi 27077.
    KEGGi hsa:27077.
    UCSCi uc002gvk.4. human. [Q9UPM9-1 ]

    Organism-specific databases

    CTDi 27077.
    GeneCardsi GC17M019244.
    HGNCi HGNC:24123. B9D1.
    HPAi HPA022957.
    MIMi 614144. gene.
    614209. phenotype.
    neXtProti NX_Q9UPM9.
    Orphaneti 564. Meckel syndrome.
    PharmGKBi PA162377328.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG271150.
    HOGENOMi HOG000038832.
    HOVERGENi HBG104431.
    InParanoidi Q9UPM9.
    KOi K16744.
    OMAi WPQLVVS.
    PhylomeDBi Q9UPM9.
    TreeFami TF314883.

    Miscellaneous databases

    GenomeRNAii 27077.
    NextBioi 49681.
    PROi Q9UPM9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UPM9.
    Bgeei Q9UPM9.
    CleanExi HS_B9D1.
    Genevestigatori Q9UPM9.

    Family and domain databases

    InterProi IPR010796. B9_dom.
    [Graphical view ]
    Pfami PF07162. B9-C2. 1 hit.
    [Graphical view ]
    PROSITEi PS51381. B9. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human homologue for B9."
      Miyashita H., Sato Y.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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 2).
      Tissue: Skin.
    3. "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."
      Bialas N.J., Inglis P.N., Li C., Robinson J.F., Parker J.D., Healey M.P., Davis E.E., Inglis C.D., Toivonen T., Cottell D.C., Blacque O.E., Quarmby L.M., Katsanis N., Leroux M.R.
      J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    4. "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis."
      Hopp K., Heyer C.M., Hommerding C.J., Henke S.A., Sundsbak J.L., Patel S., Patel P., Consugar M.B., Czarnecki P.G., Gliem T.J., Torres V.E., Rossetti S., Harris P.C.
      Hum. Mol. Genet. 20:2524-2534(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MKS9, VARIANT TRP-61.

    Entry informationi

    Entry nameiB9D1_HUMAN
    AccessioniPrimary (citable) accession number: Q9UPM9
    Secondary accession number(s): Q9BU22
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 74 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 17
      Human chromosome 17: 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