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

Gene ID: 27241, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:30000
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
mouse all
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Genomic context

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Location:
7p14.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33129285..33635767)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (33268844..33775698)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33168897..33675379)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25833 Neighboring gene uncharacterized LOC124901610 Neighboring gene 5'-nucleotidase, cytosolic IIIA Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25835 Neighboring gene RP9 pre-mRNA splicing factor Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:33327115-33328314 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:33391027-33391528 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:33391529-33392028 Neighboring gene RAB3A interacting protein like 1 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:33569166-33569387 Neighboring gene uncharacterized LOC124901611 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:33744844-33745712 Neighboring gene uncharacterized FLJ20712

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome. Zhang Y, et al. Biomed Res Int, 2021. PMID 34692830, Free PMC Article
  2. Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. Muzammal M, et al. Mol Genet Genomic Med, 2019 Aug. PMID 31294530, Free PMC Article
  3. BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. Barba M, et al. Bone, 2018 Jul. PMID 29674126, Free PMC Article
  4. Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. Khan MA, et al. BMC Med Genet, 2016 Feb 4. PMID 26846096, Free PMC Article
  5. Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). Knockenhauer KE, et al. J Biol Chem, 2015 Aug 7. PMID 26085087, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
    Title: A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
  2. Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
    Title: Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
  3. Authors found that within this structure, BBS2 and BBS7 form a tight dimer through a coiled-coil interaction and that BBS9 associates with the dimer via an interaction with the alpha-helical domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is located in its alpha-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction.
    Title: Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.
  4. Study of two apparently unrelated consanguineous Bardet-Biedle syndrome families from Dera Ismail Khan (D.I.Khan) district, Pakistan identified a recently reported single base deletion NM_001033604.1:c.299delC in the fourth exon of BBS9 in both families and speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan.
    Title: Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
  5. BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential.
    Title: BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.
  6. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women
    Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
  7. BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
    Title: Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.
  8. BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller.
    Title: Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
  9. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
    Title: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
  10. The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
    Title: The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bardet-Biedl syndrome 9
MedGen: C1859567 OMIM: 615986 GeneReviews: Bardet-Biedl Syndrome Overview
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
EBI GWAS Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
involved_in cilium assembly NAS
Non-traceable Author Statement
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
  
part_of BBSome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of BBSome IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
located_in pericentriolar material IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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_001033604.2 → NP_001028776.1  protein PTHB1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC078833, AL704922, BC103831, U85994, U85995
    Consensus CDS
    CCDS47572.1
    UniProtKB/TrEMBL
    A0A5F9ZGX9
    Related
    ENSP00000379433.2, ENST00000396127.6
    Conserved Domains (2) summary
    pfam14727
    Location:2 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 784
    PHTB1_C; PTHB1 C-terminus

  2. NM_001033605.2 → NP_001028777.1  protein PTHB1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC078833, AL704922, BC103831, BI254810, U85994
    Consensus CDS
    CCDS34618.1
    UniProtKB/TrEMBL
    A0A5F9ZGX9
    Related
    ENSP00000347182.2, ENST00000355070.6
    Conserved Domains (2) summary
    pfam14727
    Location:2 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 814
    PHTB1_C; PTHB1 C-terminus

  3. NM_001348036.1 → NP_001334965.1  protein PTHB1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS43566.1
    UniProtKB/Swiss-Prot
    E9PDC9, P78514, Q3SYG4, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
    UniProtKB/TrEMBL
    A0A090N8P4, A0A5F9ZGX9
    Related
    ENST00000673230.1
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:441 → 814
    PHTB1_C; PTHB1 C-terminus

  4. NM_001348037.3 → NP_001334966.1  protein PTHB1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZHP5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 296
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:322 → 636
    PHTB1_C; PTHB1 C-terminus

  5. NM_001348038.3 → NP_001334967.1  protein PTHB1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZHP5
    Conserved Domains (2) summary
    pfam14727
    Location:2 → 327
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:353 → 728
    PHTB1_C; PTHB1 C-terminus

  6. NM_001348039.3 → NP_001334968.1  protein PTHB1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZHP5
    Conserved Domains (2) summary
    pfam14727
    Location:2 → 327
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:353 → 693
    PHTB1_C; PTHB1 C-terminus

  7. NM_001348040.3 → NP_001334969.1  protein PTHB1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZGX9
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 779
    PHTB1_C; PTHB1 C-terminus

  8. NM_001348041.4 → NP_001334970.1  protein PTHB1 isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) represents the allele encoded by the GRCh38 reference genome and encodes isoform (9).
    Source sequence(s)
    AC006195, AC007312, AC018664, AC074338, AC078833, AC087070, AW119001
    Consensus CDS
    CCDS94079.1
    UniProtKB/TrEMBL
    A0A5F9ZGX9, A0A5F9ZH14
    Related
    ENSP00000499989.1, ENST00000673056.1
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 819
    PHTB1_C; PTHB1 C-terminus

  9. NM_001348042.3 → NP_001334971.1  protein PTHB1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS94081.1
    UniProtKB/TrEMBL
    A0A5F9ZH74, A0A5F9ZHP5
    Related
    ENSP00000500146.1, ENST00000671890.1
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 373
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:399 → 774
    PHTB1_C; PTHB1 C-terminus

  10. NM_001348043.3 → NP_001334972.1  protein PTHB1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZGX9
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 819
    PHTB1_C; PTHB1 C-terminus

  11. NM_001348044.3 → NP_001334973.1  protein PTHB1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    UniProtKB/TrEMBL
    A0A5F9ZHP5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 296
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:322 → 662
    PHTB1_C; PTHB1 C-terminus

  12. NM_001348045.3 → NP_001334974.1  protein PTHB1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS94082.1
    UniProtKB/TrEMBL
    A0A5F9ZGY2, A0A5F9ZHP5
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 296
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:322 → 697
    PHTB1_C; PTHB1 C-terminus

  13. NM_001348046.3 → NP_001334975.1  protein PTHB1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS94082.1
    UniProtKB/TrEMBL
    A0A5F9ZGY2, A0A5F9ZHP5
    Related
    ENSP00000499904.1, ENST00000671963.1
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 296
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:322 → 697
    PHTB1_C; PTHB1 C-terminus

  14. NM_001362679.1 → NP_001349608.1  protein PTHB1 isoform 14

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) represents the allele encoded by the GRCh38 reference genome and encodes isoform (14).
    Source sequence(s)
    AC018664, AL704922, AW119001, BC103831, CD105376
    Consensus CDS
    CCDS94080.1
    UniProtKB/TrEMBL
    A0A5F9ZH37, A0A5F9ZHE7
    Related
    ENSP00000500239.1, ENST00000671952.1
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 819
    PHTB1_C; PTHB1 C-terminus

  15. NM_001412127.2 → NP_001399056.1  protein PTHB1 isoform 15

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20) uses the same exon combination as variant 10 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (15) has a frameshifted C-terminus compared to isoform 9.
    Source sequence(s)
    CP068271

  16. NM_001412128.2 → NP_001399057.1  protein PTHB1 isoform 16

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) uses the same exon combination as variant 19 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (16) has a frameshifted C-terminus compared to isoform 14.
    Source sequence(s)
    CP068271

  17. NM_014451.4 → NP_055266.2  protein PTHB1 isoform 1

    See identical proteins and their annotated locations for NP_055266.2

    Status: REVIEWED

    Source sequence(s)
    AC078833, AF095771, AL704922, BC103831, U85994
    Consensus CDS
    CCDS5441.1
    UniProtKB/TrEMBL
    A0A090N7W2, A0A5F9ZGX9
    Related
    ENSP00000313122.6, ENST00000350941.7
    Conserved Domains (2) summary
    pfam14727
    Location:2 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444 → 779
    PHTB1_C; PTHB1 C-terminus

  18. NM_198428.3 → NP_940820.1  protein PTHB1 isoform 2

    See identical proteins and their annotated locations for NP_940820.1

    Status: REVIEWED

    Source sequence(s)
    AC078833, AL704922, BC103831, U85994
    Consensus CDS
    CCDS43566.1
    UniProtKB/Swiss-Prot
    E9PDC9, P78514, Q3SYG4, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
    UniProtKB/TrEMBL
    A0A090N8P4, A0A5F9ZGX9
    Related
    ENSP00000242067.6, ENST00000242067.11
    Conserved Domains (2) summary
    pfam14727
    Location:1 → 418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:441 → 814
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    33129285..33635767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    33268844..33775698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3SYG4.1 GenPept UniProtKB/Swiss-Prot:Q3SYG4

Gene LinkOut

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