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Q9BYB4

- GNB1L_HUMAN

UniProt

Q9BYB4 - GNB1L_HUMAN

Protein

Guanine nucleotide-binding protein subunit beta-like protein 1

Gene

GNB1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (13 Dec 2002)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway Source: UniProtKB
    2. intracellular signal transduction Source: UniProtKB
    3. social behavior Source: Ensembl

    Enzyme and pathway databases

    SignaLinkiQ9BYB4.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-like protein 1
    Short name:
    G protein subunit beta-like protein 1
    Alternative name(s):
    DGCRK3
    WD repeat-containing protein 14
    WD40 repeat-containing protein deleted in VCFS
    Short name:
    WDVCF
    Gene namesi
    Name:GNB1L
    Synonyms:GY2, KIAA1645, WDR14
    ORF Names:FKSG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:4397. GNB1L.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. cytoplasmic side of plasma membrane Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28777.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 327327Guanine nucleotide-binding protein subunit beta-like protein 1PRO_0000051008Add
    BLAST

    Proteomic databases

    MaxQBiQ9BYB4.
    PaxDbiQ9BYB4.
    PeptideAtlasiQ9BYB4.
    PRIDEiQ9BYB4.

    PTM databases

    PhosphoSiteiQ9BYB4.

    Expressioni

    Tissue specificityi

    Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.

    Gene expression databases

    ArrayExpressiQ9BYB4.
    BgeeiQ9BYB4.
    CleanExiHS_GNB1L.
    GenevestigatoriQ9BYB4.

    Organism-specific databases

    HPAiHPA034627.
    HPA034628.

    Interactioni

    Protein-protein interaction databases

    BioGridi120061. 2 interactions.
    IntActiQ9BYB4. 1 interaction.
    STRINGi9606.ENSP00000331313.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYB4.
    SMRiQ9BYB4. Positions 37-323.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati18 – 6245WD 1Add
    BLAST
    Repeati65 – 10541WD 2Add
    BLAST
    Repeati160 – 20344WD 3Add
    BLAST
    Repeati206 – 24540WD 4Add
    BLAST
    Repeati251 – 29242WD 5Add
    BLAST
    Repeati293 – 32634WD 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 129Poly-Pro

    Sequence similaritiesi

    Contains 6 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000007056.
    HOVERGENiHBG051745.
    InParanoidiQ9BYB4.
    OMAiERKVCSR.
    OrthoDBiEOG7XH6Q7.
    PhylomeDBiQ9BYB4.
    TreeFamiTF344050.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 3 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 6 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 2 hits.
    PROSITEiPS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BYB4-1) [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

    MTAPCPPPPP DPQFVLRGTQ SPVHALHFCE GAQAQGRPLL FSGSQSGLVH    50
    IWSLQTRRAV TTLDGHGGQC VTWLQTLPQG RQLLSQGRDL KLCLWDLAEG 100
    RSAVVDSVCL ESVGFCRSSI LAGGQPRWTL AVPGRGSDEV QILEMPSKTS 150
    VCALKPKADA KLGMPMCLRL WQADCSSRPL LLAGYEDGSV VLWDVSEQKV 200
    CSRIACHEEP VMDLDFDSQK ARGISGSAGK ALAVWSLDWQ QALQVRGTHE 250
    LTNPGIAEVT IRPDRKILAT AGWDHRIRVF HWRTMQPLAV LAFHSAAVQC 300
    VAFTADGLLA AGSKDQRISL WSLYPRA 327
    Length:327
    Mass (Da):35,618
    Last modified:December 13, 2002 - v2
    Checksum:i1A2FEAE50AF57A60
    GO
    Isoform 2 (identifier: Q9BYB4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         211-212: VM → GL
         213-327: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:212
    Mass (Da):22,896
    Checksum:i7E10D4702139F9BC
    GO

    Sequence cautioni

    The sequence BAB33315.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301E → K.
    Corresponds to variant rs35178436 [ dbSNP | Ensembl ].
    VAR_053394
    Natural varianti37 – 371R → H.
    Corresponds to variant rs5748449 [ dbSNP | Ensembl ].
    VAR_053395
    Natural varianti239 – 2391W → G.
    Corresponds to variant rs2073770 [ dbSNP | Ensembl ].
    VAR_024698
    Natural varianti296 – 2961A → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035882

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei211 – 2122VM → GL in isoform 2. 1 PublicationVSP_006767
    Alternative sequencei213 – 327115Missing in isoform 2. 1 PublicationVSP_006768Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF238328 mRNA. Translation: AAG36826.1.
    AF301895 mRNA. Translation: AAG53933.1.
    AY007378 mRNA. Translation: AAG12162.1.
    AB049212 Genomic DNA. Translation: BAB68408.1.
    AB051432 mRNA. Translation: BAB33315.1. Different initiation.
    CR456496 mRNA. Translation: CAG30382.1.
    BC012060 mRNA. Translation: AAH12060.1.
    CCDSiCCDS13768.1. [Q9BYB4-1]
    RefSeqiNP_443730.1. NM_053004.2. [Q9BYB4-1]
    UniGeneiHs.105642.

    Genome annotation databases

    EnsembliENST00000329517; ENSP00000331313; ENSG00000185838. [Q9BYB4-1]
    ENST00000403325; ENSP00000385154; ENSG00000185838. [Q9BYB4-1]
    ENST00000405009; ENSP00000384626; ENSG00000185838. [Q9BYB4-2]
    GeneIDi54584.
    KEGGihsa:54584.
    UCSCiuc002zqf.1. human. [Q9BYB4-1]

    Polymorphism databases

    DMDMi27151507.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF238328 mRNA. Translation: AAG36826.1 .
    AF301895 mRNA. Translation: AAG53933.1 .
    AY007378 mRNA. Translation: AAG12162.1 .
    AB049212 Genomic DNA. Translation: BAB68408.1 .
    AB051432 mRNA. Translation: BAB33315.1 . Different initiation.
    CR456496 mRNA. Translation: CAG30382.1 .
    BC012060 mRNA. Translation: AAH12060.1 .
    CCDSi CCDS13768.1. [Q9BYB4-1 ]
    RefSeqi NP_443730.1. NM_053004.2. [Q9BYB4-1 ]
    UniGenei Hs.105642.

    3D structure databases

    ProteinModelPortali Q9BYB4.
    SMRi Q9BYB4. Positions 37-323.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120061. 2 interactions.
    IntActi Q9BYB4. 1 interaction.
    STRINGi 9606.ENSP00000331313.

    PTM databases

    PhosphoSitei Q9BYB4.

    Polymorphism databases

    DMDMi 27151507.

    Proteomic databases

    MaxQBi Q9BYB4.
    PaxDbi Q9BYB4.
    PeptideAtlasi Q9BYB4.
    PRIDEi Q9BYB4.

    Protocols and materials databases

    DNASUi 54584.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329517 ; ENSP00000331313 ; ENSG00000185838 . [Q9BYB4-1 ]
    ENST00000403325 ; ENSP00000385154 ; ENSG00000185838 . [Q9BYB4-1 ]
    ENST00000405009 ; ENSP00000384626 ; ENSG00000185838 . [Q9BYB4-2 ]
    GeneIDi 54584.
    KEGGi hsa:54584.
    UCSCi uc002zqf.1. human. [Q9BYB4-1 ]

    Organism-specific databases

    CTDi 54584.
    GeneCardsi GC22M019770.
    HGNCi HGNC:4397. GNB1L.
    HPAi HPA034627.
    HPA034628.
    MIMi 610778. gene.
    neXtProti NX_Q9BYB4.
    PharmGKBi PA28777.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000007056.
    HOVERGENi HBG051745.
    InParanoidi Q9BYB4.
    OMAi ERKVCSR.
    OrthoDBi EOG7XH6Q7.
    PhylomeDBi Q9BYB4.
    TreeFami TF344050.

    Enzyme and pathway databases

    SignaLinki Q9BYB4.

    Miscellaneous databases

    GeneWikii GNB1L.
    GenomeRNAii 54584.
    NextBioi 57105.
    PROi Q9BYB4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BYB4.
    Bgeei Q9BYB4.
    CleanExi HS_GNB1L.
    Genevestigatori Q9BYB4.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 3 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 6 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 2 hits.
    PROSITEi PS00678. WD_REPEATS_1. 1 hit.
    PS50082. WD_REPEATS_2. 1 hit.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide."
      Gong L., Liu M., Jen J., Yeh E.T.H.
      Biochim. Biophys. Acta 1494:185-188(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    2. "Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11."
      Funke B., Pandita R.K., Morrow B.E.
      Genomics 73:264-271(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Molecular cloning of FKSG1, a novel gene deleted in DiGeorge syndrome."
      Wang Y.-G.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Molecular cloning of DGCRK3."
      Shimizu N., Minosima S., Kawasaki K., Sasaki T.
      Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
      Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
      DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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).
      Tissue: Lung.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-296.

    Entry informationi

    Entry nameiGNB1L_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYB4
    Secondary accession number(s): Q9H2S2, Q9H4M4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 13, 2002
    Last sequence update: December 13, 2002
    Last modified: October 1, 2014
    This is version 121 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 22
      Human chromosome 22: 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