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Q3SYG4

- PTHB1_HUMAN

UniProt

Q3SYG4 - PTHB1_HUMAN

Protein

Protein PTHB1

Gene

BBS9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 1 (11 Oct 2005)
      Previous versions | rss
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    Functioni

    The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell projection organization Source: UniProtKB-KW
    2. fat cell differentiation Source: BHF-UCL
    3. protein transport Source: UniProtKB-KW
    4. response to stimulus Source: UniProtKB-KW
    5. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein PTHB1
    Alternative name(s):
    Bardet-Biedl syndrome 9 protein
    Parathyroid hormone-responsive B1 gene protein
    Gene namesi
    Name:BBS9
    Synonyms:PTHB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:30000. BBS9.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary membrane Source: UniProtKB-SubCell
    3. cilium Source: UniProtKB
    4. cytoplasm Source: UniProtKB-SubCell
    5. microtubule organizing center Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.
    Bardet-Biedl syndrome 9 (BBS9) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411G → R in BBS9. 1 Publication
    VAR_026389

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA162377359.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 887887Protein PTHB1PRO_0000235269Add
    BLAST

    Proteomic databases

    MaxQBiQ3SYG4.
    PaxDbiQ3SYG4.
    PRIDEiQ3SYG4.

    PTM databases

    PhosphoSiteiQ3SYG4.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.2 Publications

    Inductioni

    Down-regulated by parathyroid hormone.1 Publication

    Gene expression databases

    ArrayExpressiQ3SYG4.
    BgeeiQ3SYG4.
    GenevestigatoriQ3SYG4.

    Organism-specific databases

    HPAiHPA021289.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BBS1Q8NFJ96EBI-2826852,EBI-1805484
    BBS10Q8TAM12EBI-2826852,EBI-6128013
    BBS12Q6ZW612EBI-2826852,EBI-6128352
    BBS2Q9BXC99EBI-2826852,EBI-748297
    BBS5Q8N3I73EBI-2826852,EBI-2892592
    LZTFL1Q9NQ486EBI-2826852,EBI-2824799
    TTC8Q8TAM22EBI-2826852,EBI-2892638

    Protein-protein interaction databases

    BioGridi118089. 1 interaction.
    DIPiDIP-60358N.
    IntActiQ3SYG4. 12 interactions.
    MINTiMINT-3059897.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3SYG4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni685 – 76581Interaction with LZTL1Add
    BLAST

    Phylogenomic databases

    eggNOGiNOG329692.
    HOVERGENiHBG082225.
    OMAiVNVMGFR.
    OrthoDBiEOG7W153P.
    PhylomeDBiQ3SYG4.
    TreeFamiTF314513.

    Family and domain databases

    InterProiIPR028074. PHTB1_C_dom.
    IPR028073. PHTB1_N_dom.
    IPR026511. PTHB1.
    [Graphical view]
    PANTHERiPTHR20991:SF0. PTHR20991:SF0. 1 hit.
    PfamiPF14728. PHTB1_C. 1 hit.
    PF14727. PHTB1_N. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3SYG4-1) [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

    MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR    50
    IFSPHPAKTG DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS 100
    RKLCVYSVSG TLGNVEHGNQ CQMKLMYEHN LQRTACNMTY GSFGGVKGRD 150
    LICIQSMDGM LMVFEQESYA FGRFLPGFLL PGPLAYSSRT DSFLTVSSCQ 200
    QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN IGEQALDICI 250
    VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT 300
    INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD 350
    DGHLQCSYLG TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG 400
    VWPMTEREDD LNVSVVVSPN FDSVSQATDV EVGTDLVPSV TVKVTLQNRV 450
    ILQKAKLSVY VQPPLELTCD QFTFEFMTPD LTRTVSFSVY LKRSYTPSEL 500
    EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP SKTASHKITI 550
    DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR 600
    IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID 650
    HHFELRINGE KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD 700
    GTYKQVIALA DAVEENQGNL FQSFTRLKSA THLVILLIAL WQKLSADQVA 750
    ILEAAFLPLQ EDTQELGWEE TVDAAISHLL KTCLSKSSKE QALNLNSQLN 800
    IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP GGCTTIPESD 850
    LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE 887
    Length:887
    Mass (Da):99,280
    Last modified:October 11, 2005 - v1
    Checksum:i8E333B7680243B7A
    GO
    Isoform 2 (identifier: Q3SYG4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         478-518: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDG → S

    Show »
    Length:847
    Mass (Da):94,808
    Checksum:i2D2E7159015D0591
    GO
    Isoform 3 (identifier: Q3SYG4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         878-887: EVSPLQGVSE → GKRLDGLHKR

    Show »
    Length:887
    Mass (Da):99,416
    Checksum:i7E1E2259CE89AB3B
    GO
    Isoform 4 (identifier: Q3SYG4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         478-513: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTD → N

    Show »
    Length:852
    Mass (Da):95,375
    Checksum:i9E1C051A8C496E54
    GO
    Isoform 5 (identifier: Q3SYG4-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-45: Missing.
         339-355: HDLKGVIVTLSDDGHLQ → QFSLWKHLLPRSSTLEK
         356-887: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:310
    Mass (Da):34,769
    Checksum:iF1C67C25D9975922
    GO
    Isoform 6 (identifier: Q3SYG4-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         478-481: TPDL → IFSS
         482-887: Missing.

    Show »
    Length:481
    Mass (Da):53,725
    Checksum:i86700B71620E909F
    GO
    Isoform 7 (identifier: Q3SYG4-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         513-517: Missing.

    Note: No experimental confirmation available. Gene prediction based on EST data.

    Show »
    Length:882
    Mass (Da):98,683
    Checksum:iF67942202E8979E4
    GO

    Sequence cautioni

    The sequence AAD25980.1 differs from that shown. Reason: Chimera.
    The sequence AAD25981.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti282 – 2821K → R in AAD25981. (PubMed:10221542)Curated
    Sequence conflicti759 – 7591L → V in AAB47568. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121T → A.
    Corresponds to variant rs4498440 [ dbSNP | Ensembl ].
    VAR_051289
    Natural varianti141 – 1411G → R in BBS9. 1 Publication
    VAR_026389
    Natural varianti455 – 4551A → T.
    Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
    VAR_051290
    Natural varianti455 – 4551A → V.
    Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
    VAR_026390
    Natural varianti521 – 5211R → Q.
    Corresponds to variant rs34218557 [ dbSNP | Ensembl ].
    VAR_051291
    Natural varianti549 – 5491T → I.1 Publication
    Corresponds to variant rs59252892 [ dbSNP | Ensembl ].
    VAR_066292
    Natural varianti665 – 6651L → F.1 Publication
    Corresponds to variant rs116262072 [ dbSNP | Ensembl ].
    VAR_066293
    Natural varianti779 – 7791L → Q.1 Publication
    Corresponds to variant rs142434516 [ dbSNP | Ensembl ].
    VAR_066294

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4545Missing in isoform 5. 1 PublicationVSP_018421Add
    BLAST
    Alternative sequencei339 – 35517HDLKG…DGHLQ → QFSLWKHLLPRSSTLEK in isoform 5. 1 PublicationVSP_018422Add
    BLAST
    Alternative sequencei356 – 887532Missing in isoform 5. 1 PublicationVSP_018423Add
    BLAST
    Alternative sequencei478 – 51841TPDLT…RNPDG → S in isoform 2. 1 PublicationVSP_018426Add
    BLAST
    Alternative sequencei478 – 51336TPDLT…SRPTD → N in isoform 4. 1 PublicationVSP_018427Add
    BLAST
    Alternative sequencei478 – 4814TPDL → IFSS in isoform 6. CuratedVSP_018424
    Alternative sequencei482 – 887406Missing in isoform 6. CuratedVSP_018425Add
    BLAST
    Alternative sequencei513 – 5175Missing in isoform 7. CuratedVSP_054063
    Alternative sequencei878 – 88710EVSPLQGVSE → GKRLDGLHKR in isoform 3. 1 PublicationVSP_018428

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC006195 Genomic DNA. No translation available.
    AC007312 Genomic DNA. No translation available.
    AC074338 Genomic DNA. No translation available.
    AC078833 Genomic DNA. No translation available.
    AC087070 Genomic DNA. No translation available.
    BC032715 mRNA. Translation: AAH32715.1.
    BC103831 mRNA. Translation: AAI03832.1.
    AF095770 mRNA. Translation: AAD25980.1. Sequence problems.
    AF095771 mRNA. Translation: AAD25981.1. Different initiation.
    U85994 mRNA. Translation: AAB61918.1.
    U85995 mRNA. Translation: AAB61919.1.
    U85997 Genomic DNA. Translation: AAB46606.1.
    U87408 mRNA. Translation: AAB47568.1.
    CCDSiCCDS34618.1. [Q3SYG4-7]
    CCDS43566.1. [Q3SYG4-1]
    CCDS47572.1. [Q3SYG4-4]
    CCDS5441.1. [Q3SYG4-2]
    RefSeqiNP_001028776.1. NM_001033604.1. [Q3SYG4-4]
    NP_001028777.1. NM_001033605.1. [Q3SYG4-7]
    NP_055266.2. NM_014451.3. [Q3SYG4-2]
    NP_940820.1. NM_198428.2. [Q3SYG4-1]
    XP_006715750.1. XM_006715687.1. [Q3SYG4-1]
    UniGeneiHs.372360.

    Genome annotation databases

    EnsembliENST00000242067; ENSP00000242067; ENSG00000122507. [Q3SYG4-1]
    ENST00000350941; ENSP00000313122; ENSG00000122507. [Q3SYG4-2]
    ENST00000355070; ENSP00000347182; ENSG00000122507. [Q3SYG4-7]
    ENST00000396127; ENSP00000379433; ENSG00000122507. [Q3SYG4-4]
    ENST00000425508; ENSP00000405151; ENSG00000122507. [Q3SYG4-5]
    GeneIDi27241.
    KEGGihsa:27241.
    UCSCiuc003tdn.1. human. [Q3SYG4-1]
    uc003tdo.1. human. [Q3SYG4-4]
    uc003tdq.1. human. [Q3SYG4-2]

    Polymorphism databases

    DMDMi97180305.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC006195 Genomic DNA. No translation available.
    AC007312 Genomic DNA. No translation available.
    AC074338 Genomic DNA. No translation available.
    AC078833 Genomic DNA. No translation available.
    AC087070 Genomic DNA. No translation available.
    BC032715 mRNA. Translation: AAH32715.1 .
    BC103831 mRNA. Translation: AAI03832.1 .
    AF095770 mRNA. Translation: AAD25980.1 . Sequence problems.
    AF095771 mRNA. Translation: AAD25981.1 . Different initiation.
    U85994 mRNA. Translation: AAB61918.1 .
    U85995 mRNA. Translation: AAB61919.1 .
    U85997 Genomic DNA. Translation: AAB46606.1 .
    U87408 mRNA. Translation: AAB47568.1 .
    CCDSi CCDS34618.1. [Q3SYG4-7 ]
    CCDS43566.1. [Q3SYG4-1 ]
    CCDS47572.1. [Q3SYG4-4 ]
    CCDS5441.1. [Q3SYG4-2 ]
    RefSeqi NP_001028776.1. NM_001033604.1. [Q3SYG4-4 ]
    NP_001028777.1. NM_001033605.1. [Q3SYG4-7 ]
    NP_055266.2. NM_014451.3. [Q3SYG4-2 ]
    NP_940820.1. NM_198428.2. [Q3SYG4-1 ]
    XP_006715750.1. XM_006715687.1. [Q3SYG4-1 ]
    UniGenei Hs.372360.

    3D structure databases

    ProteinModelPortali Q3SYG4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118089. 1 interaction.
    DIPi DIP-60358N.
    IntActi Q3SYG4. 12 interactions.
    MINTi MINT-3059897.

    PTM databases

    PhosphoSitei Q3SYG4.

    Polymorphism databases

    DMDMi 97180305.

    Proteomic databases

    MaxQBi Q3SYG4.
    PaxDbi Q3SYG4.
    PRIDEi Q3SYG4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000242067 ; ENSP00000242067 ; ENSG00000122507 . [Q3SYG4-1 ]
    ENST00000350941 ; ENSP00000313122 ; ENSG00000122507 . [Q3SYG4-2 ]
    ENST00000355070 ; ENSP00000347182 ; ENSG00000122507 . [Q3SYG4-7 ]
    ENST00000396127 ; ENSP00000379433 ; ENSG00000122507 . [Q3SYG4-4 ]
    ENST00000425508 ; ENSP00000405151 ; ENSG00000122507 . [Q3SYG4-5 ]
    GeneIDi 27241.
    KEGGi hsa:27241.
    UCSCi uc003tdn.1. human. [Q3SYG4-1 ]
    uc003tdo.1. human. [Q3SYG4-4 ]
    uc003tdq.1. human. [Q3SYG4-2 ]

    Organism-specific databases

    CTDi 27241.
    GeneCardsi GC07P033168.
    GeneReviewsi BBS9.
    HGNCi HGNC:30000. BBS9.
    HPAi HPA021289.
    MIMi 209900. phenotype.
    607968. gene.
    neXtProti NX_Q3SYG4.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA162377359.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG329692.
    HOVERGENi HBG082225.
    OMAi VNVMGFR.
    OrthoDBi EOG7W153P.
    PhylomeDBi Q3SYG4.
    TreeFami TF314513.

    Miscellaneous databases

    ChiTaRSi BBS9. human.
    GeneWikii BBS9.
    GenomeRNAii 27241.
    NextBioi 50129.
    PROi Q3SYG4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q3SYG4.
    Bgeei Q3SYG4.
    Genevestigatori Q3SYG4.

    Family and domain databases

    InterProi IPR028074. PHTB1_C_dom.
    IPR028073. PHTB1_N_dom.
    IPR026511. PTHB1.
    [Graphical view ]
    PANTHERi PTHR20991:SF0. PTHR20991:SF0. 1 hit.
    Pfami PF14728. PHTB1_C. 1 hit.
    PF14727. PHTB1_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    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] (ISOFORMS 1 AND 5).
      Tissue: Uterus.
    3. "Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells."
      Adams A.E., Rosenblatt M., Suva L.J.
      Bone 24:305-313(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-887 (ISOFORM 2), INDUCTION, TISSUE SPECIFICITY.
      Tissue: Osteosarcoma.
    4. "Positional candidates for the RP9 retinitis pigmentosa gene."
      Keen T.J.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 424-887 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 611-887 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 435-887 (ISOFORM 3), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 842-887.
      Tissue: Brain and Spleen.
    5. "The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour."
      Vernon E.G., Malik K., Reynolds P., Powlesland R., Dallosso A.R., Jackson S., Henthorn K., Green E.D., Brown K.W.
      Oncogene 22:1371-1380(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 2; 4 AND 6), CHROMOSOMAL TRANSLOCATION WITH OBSCN.
    6. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
      Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
      Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
    7. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
      Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
      PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, INTERACTION WITH LZTL1, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
    8. "Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene."
      Nishimura D.Y., Swiderski R.E., Searby C.C., Berg E.M., Ferguson A.L., Hennekam R.C.M., Merin S., Weleber R.G., Biesecker L.G., Stone E.M., Sheffield V.C.
      Am. J. Hum. Genet. 77:1021-1033(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BBS9 ARG-141, TISSUE SPECIFICITY.
    9. Cited for: VARIANTS ILE-549; PHE-665 AND GLN-779.

    Entry informationi

    Entry nameiPTHB1_HUMAN
    AccessioniPrimary (citable) accession number: Q3SYG4
    Secondary accession number(s): E9PDC9
    , P78514, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 83 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 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