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

Gene ID: 27241, updated on 14-Jun-2018
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; Vega:OTTHUMG00000128659
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
See BBS9 in Genome Data Viewer
Location:
7p14.3
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (33129244..33637238)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (33169144..33645680)

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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
NHGRI GWA Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
  • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC118917

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BBSome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
BBSome IDA
Inferred from Direct Assay
more info
PubMed 
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pericentriolar material IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein PTHB1
Names
PTH-responsive osteosarcoma B1 protein
bardet-Biedl syndrome 9 protein
parathyroid hormone-responsive B1 gene protein

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
    5297..481825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033604.1NP_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)
    AL704922, BC103831, U85994, U85995
    Consensus CDS
    CCDS47572.1
    UniProtKB/Swiss-Prot
    Q3SYG4
    Related
    ENSP00000379433.2, OTTHUMP00000202918, ENST00000396127.6, OTTHUMT00000329063
    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444784
    PHTB1_C; PTHB1 C-terminus
  2. NM_001033605.1NP_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)
    AL704922, BC103831, BI254810, U85994
    Consensus CDS
    CCDS34618.1
    UniProtKB/Swiss-Prot
    Q3SYG4
    Related
    ENSP00000347182.2, OTTHUMP00000202920, ENST00000355070.6, OTTHUMT00000329065
    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
    Conserved Domains (2) summary
    pfam14727
    Location:1418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444819
    PHTB1_C; PTHB1 C-terminus
  4. NM_001348037.2NP_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_001348038.2NP_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_001348039.2NP_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_001348040.2NP_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_001348041.3NP_001334970.1  protein PTHB1 isoform 9

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Conserved Domains (2) summary
    pfam14727
    Location:1373
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:399774
    PHTB1_C; PTHB1 C-terminus
  10. NM_001348043.2NP_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_001348044.2NP_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_001348045.2NP_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_001348046.2NP_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
    Conserved Domains (2) summary
    pfam14727
    Location:1296
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:322697
    PHTB1_C; PTHB1 C-terminus
  14. NM_014451.3NP_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)
    AF095771, AL704922, BC103831, U85994
    Consensus CDS
    CCDS5441.1
    UniProtKB/Swiss-Prot
    Q3SYG4
    UniProtKB/TrEMBL
    A0A090N7W2
    Related
    ENSP00000313122.6, OTTHUMP00000158833, ENST00000350941.7, OTTHUMT00000250541
    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444779
    PHTB1_C; PTHB1 C-terminus
  15. NM_198428.2NP_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)
    AL704922, BC103831, U85994
    Consensus CDS
    CCDS43566.1
    UniProtKB/Swiss-Prot
    Q3SYG4
    UniProtKB/TrEMBL
    A0A090N8P4
    Related
    ENSP00000242067.6, OTTHUMP00000202919, ENST00000242067.10, OTTHUMT00000329064
    Conserved Domains (2) summary
    pfam14727
    Location:1418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444819
    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
  3. NR_145413.2 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 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
  9. XM_011515268.2XP_011513570.1  protein PTHB1 isoform X4

    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444819
    PHTB1_C; PTHB1 C-terminus

RNA

  1. XR_001744634.2 RNA Sequence

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