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

Gene ID: 27241, updated on 21-Dec-2022

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; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BBS9 in Genome Data Viewer
Location:
7p14.3
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (33129285..33635767)
110 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 uncharacterized LOC124901610 Neighboring gene 5'-nucleotidase, cytosolic IIIA Neighboring gene RNA, 7SL, cytoplasmic 505, pseudogene Neighboring gene RP9 pre-mRNA splicing factor Neighboring gene RNA, 5S ribosomal pseudogene 229 Neighboring gene RAB3A interacting protein like 1 pseudogene Neighboring gene uncharacterized LOC124901611 Neighboring gene uncharacterized FLJ20712

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
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

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 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
PubMed 
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
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

    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

    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

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS43566.1
    UniProtKB/Swiss-Prot
    Q3SYG4, Q9Y6A0
    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

    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
    A0A5F9ZH14
    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
    Consensus CDS
    CCDS94081.1
    UniProtKB/TrEMBL
    A0A5F9ZH74
    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

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS94082.1
    UniProtKB/TrEMBL
    A0A5F9ZGY2
    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

    Source sequence(s)
    AC006195, AC007312, AC074338, AC078833, AC087070
    Consensus CDS
    CCDS94082.1
    UniProtKB/TrEMBL
    A0A5F9ZGY2
    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

    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
    A0A5F9ZHE7
    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_001412127.2NP_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_001412128.2NP_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_014451.4NP_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/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
  18. NM_198428.3NP_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
    Q3SYG4, Q9Y6A0
    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 Annotation Release 110 details...Open this link in a new tab

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)

mRNA and Protein(s)

  1. XM_011515265.3XP_011513567.1  protein PTHB1 isoform X1

    See identical proteins and their annotated locations for XP_011513567.1

    UniProtKB/TrEMBL
    A0A5F9ZH14
    Conserved Domains (2) summary
    pfam14727
    Location:1418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444819
    PHTB1_C; PTHB1 C-terminus
  2. XM_017011990.2XP_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_047420201.1XP_047276157.1  protein PTHB1 isoform X3

  4. XM_011515266.4XP_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
  5. XM_047420203.1XP_047276159.1  protein PTHB1 isoform X6

  6. XM_011515267.4XP_011513569.1  protein PTHB1 isoform X5

    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444784
    PHTB1_C; PTHB1 C-terminus
  7. XM_047420202.1XP_047276158.1  protein PTHB1 isoform X4

  8. XM_047420204.1XP_047276160.1  protein PTHB1 isoform X7

    Related
    ENSP00000500552.1, ENST00000673431.1
  9. XM_011515270.4XP_011513572.1  protein PTHB1 isoform X9

    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444706
    PHTB1_C; PTHB1 C-terminus
  10. XM_005249701.4XP_005249758.1  protein PTHB1 isoform X10

    Conserved Domains (2) summary
    pfam14727
    Location:2418
    PHTB1_N; PTHB1 N-terminus
    pfam14728
    Location:444705
    PHTB1_C; PTHB1 C-terminus
  11. XM_017011994.3XP_016867483.1  protein PTHB1 isoform X11

  12. XM_011515269.3XP_011513571.1  protein PTHB1 isoform X8

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

RNA

  1. XR_001744634.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    33268844..33775698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)