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    BBS9 Bardet-Biedl syndrome 9 [ Homo sapiens (human) ]

    Gene ID: 27241, updated on 8-Jul-2021

    Summary

    Official Symbol
    BBS9provided by HGNC
    Official Full Name
    Bardet-Biedl syndrome 9provided by HGNC
    Primary source
    HGNC:HGNC:30000
    See related
    Ensembl:ENSG00000122507 MIM:607968
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B1; D1; C18; PTHB1
    Summary
    This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
    Expression
    Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BBS9 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (33129244..33637238)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33168897..33675379)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene 5'-nucleotidase, cytosolic IIIA Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene RP9 pre-mRNA splicing factor Neighboring gene RAB3A interacting protein like 1 pseudogene Neighboring gene uncharacterized FLJ20712 Neighboring gene BMP binding endothelial regulator Neighboring gene VISTA enhancer hs1336

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
    GeneReviews: Not available
    Bardet-Biedl syndrome 9
    MedGen: C1859567 OMIM: 615986 GeneReviews: Bardet-Biedl Syndrome Overview
    Compare labs
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC118917

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein PTHB1
    Names
    PTH-responsive osteosarcoma B1 protein
    bardet-Biedl syndrome 9 protein
    parathyroid hormone-responsive B1 gene protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009306.2 RefSeqGene

      Range
      5321..481826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033604.2NP_001028776.1  protein PTHB1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional in-frame exon in the coding region compared to variant 1. The resulting isoform (3) is longer than isoform 1.
      Source sequence(s)
      AC078833, AL704922, BC103831, U85994, U85995
      Consensus CDS
      CCDS47572.1
      UniProtKB/Swiss-Prot
      Q3SYG4
      Related
      ENSP00000379433.2, ENST00000396127.6
      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444784
      PHTB1_C; PTHB1 C-terminus
    2. NM_001033605.2NP_001028777.1  protein PTHB1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional in-frame exon in the coding region compared to variant 1. The resulting isoform (4) is longer than isoform 1.
      Source sequence(s)
      AC078833, AL704922, BC103831, BI254810, U85994
      Consensus CDS
      CCDS34618.1
      UniProtKB/Swiss-Prot
      Q3SYG4
      Related
      ENSP00000347182.2, ENST00000355070.6
      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444814
      PHTB1_C; PTHB1 C-terminus
    3. NM_001348036.1NP_001334965.1  protein PTHB1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Consensus CDS
      CCDS43566.1
      UniProtKB/Swiss-Prot
      Q3SYG4
      UniProtKB/TrEMBL
      A0A090N8P4
      Related
      ENST00000673230.1
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:441814
      PHTB1_C; PTHB1 C-terminus
    4. NM_001348037.3NP_001334966.1  protein PTHB1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:1296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322636
      PHTB1_C; PTHB1 C-terminus
    5. NM_001348038.3NP_001334967.1  protein PTHB1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:2327
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:353728
      PHTB1_C; PTHB1 C-terminus
    6. NM_001348039.3NP_001334968.1  protein PTHB1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:2327
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:353693
      PHTB1_C; PTHB1 C-terminus
    7. NM_001348040.3NP_001334969.1  protein PTHB1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444779
      PHTB1_C; PTHB1 C-terminus
    8. NM_001348041.4NP_001334970.1  protein PTHB1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC018664, AC074338, AC078833, AC087070, AW119001
      Related
      ENSP00000499989.1, ENST00000673056.1
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444819
      PHTB1_C; PTHB1 C-terminus
    9. NM_001348042.3NP_001334971.1  protein PTHB1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENSP00000500146.1, ENST00000671890.1
      Conserved Domains (2) summary
      pfam14727
      Location:1373
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:399774
      PHTB1_C; PTHB1 C-terminus
    10. NM_001348043.3NP_001334972.1  protein PTHB1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444819
      PHTB1_C; PTHB1 C-terminus
    11. NM_001348044.3NP_001334973.1  protein PTHB1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:1296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322662
      PHTB1_C; PTHB1 C-terminus
    12. NM_001348045.3NP_001334974.1  protein PTHB1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variant 15, encodes isoform 13.
      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Conserved Domains (2) summary
      pfam14727
      Location:1296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322697
      PHTB1_C; PTHB1 C-terminus
    13. NM_001348046.3NP_001334975.1  protein PTHB1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variant 14, encodes isoform 13.
      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENSP00000499904.1, ENST00000671963.1
      Conserved Domains (2) summary
      pfam14727
      Location:1296
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:322697
      PHTB1_C; PTHB1 C-terminus
    14. NM_001362679.1NP_001349608.1  protein PTHB1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC018664, AL704922, AW119001, BC103831, CD105376
      Related
      ENSP00000500239.1, ENST00000671952.1
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444819
      PHTB1_C; PTHB1 C-terminus
    15. NM_014451.4NP_055266.2  protein PTHB1 isoform 1

      See identical proteins and their annotated locations for NP_055266.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC078833, AF095771, AL704922, BC103831, U85994
      Consensus CDS
      CCDS5441.1
      UniProtKB/Swiss-Prot
      Q3SYG4
      UniProtKB/TrEMBL
      A0A090N7W2
      Related
      ENSP00000313122.6, ENST00000350941.7
      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444779
      PHTB1_C; PTHB1 C-terminus
    16. NM_198428.3NP_940820.1  protein PTHB1 isoform 2

      See identical proteins and their annotated locations for NP_940820.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains two additional in-frame exons in the coding region compared to variant 1. The resulting isoform (2) is longer than isoform 1. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AC078833, AL704922, BC103831, U85994
      Consensus CDS
      CCDS43566.1
      UniProtKB/Swiss-Prot
      Q3SYG4
      UniProtKB/TrEMBL
      A0A090N8P4
      Related
      ENSP00000242067.6, ENST00000242067.11
      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:441814
      PHTB1_C; PTHB1 C-terminus

    RNA

    1. NR_145411.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
    2. NR_145412.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENST00000673462.1
    3. NR_145413.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006195, AC007312, AC074338, AC078833, AC087070
      Related
      ENST00000433714.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      33129244..33637238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515265.2XP_011513567.1  protein PTHB1 isoform X1

      See identical proteins and their annotated locations for XP_011513567.1

      Conserved Domains (2) summary
      pfam14727
      Location:1418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444819
      PHTB1_C; PTHB1 C-terminus
    2. XM_017011990.1XP_016867479.1  protein PTHB1 isoform X2

      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444814
      PHTB1_C; PTHB1 C-terminus
    3. XM_011515266.3XP_011513568.1  protein PTHB1 isoform X2

      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444814
      PHTB1_C; PTHB1 C-terminus
    4. XM_011515267.3XP_011513569.1  protein PTHB1 isoform X3

      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444784
      PHTB1_C; PTHB1 C-terminus
    5. XM_011515270.3XP_011513572.1  protein PTHB1 isoform X6

      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444706
      PHTB1_C; PTHB1 C-terminus
    6. XM_005249701.3XP_005249758.1  protein PTHB1 isoform X7

      Conserved Domains (2) summary
      pfam14727
      Location:2418
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444705
      PHTB1_C; PTHB1 C-terminus
    7. XM_017011994.2XP_016867483.1  protein PTHB1 isoform X8

    8. XM_011515269.2XP_011513571.1  protein PTHB1 isoform X5

      Conserved Domains (2) summary
      pfam14727
      Location:2327
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:353728
      PHTB1_C; PTHB1 C-terminus

    RNA

    1. XR_001744634.2 RNA Sequence

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