Seroatlas · Human Serome Atlas

BBS9

Protein PTHB1

Also known as: B1, PTHB1, PTHB1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q3SYG4
Gene: BBS9
Ensembl: ENSG00000122507
Chromosome: 7
Canonical length: 887 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Primary cilium,Basal body,Cytosol,Acrosome,Equatorial segment,Flagellar centriole,Mid piece,Principal piece

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

887 residues, UniProt reviewed canonical sequence.

>Q3SYG4|BBS9
     1  MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR IFSPHPAKTG
    61  DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ
   121  CQMKLMYEHN LQRTACNMTY GSFGGVKGRD LICIQSMDGM LMVFEQESYA FGRFLPGFLL
   181  PGPLAYSSRT DSFLTVSSCQ QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN
   241  IGEQALDICI VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT
   301  INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD DGHLQCSYLG
   361  TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG VWPMTEREDD LNVSVVVSPN
   421  FDSVSQATDV EVGTDLVPSV TVKVTLQNRV ILQKAKLSVY VQPPLELTCD QFTFEFMTPD
   481  LTRTVSFSVY LKRSYTPSEL EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP
   541  SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR
   601  IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID HHFELRINGE
   661  KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD GTYKQVIALA DAVEENQGNL
   721  FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ EDTQELGWEE TVDAAISHLL
   781  KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP
   841  GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

retina: 20 nTPM
choroid plexus: 13 nTPM
parathyroid gland: 9.7 nTPM
pituitary gland: 8.7 nTPM
testis: 8.7 nTPM
thyroid gland: 8.2 nTPM

Single-cell type

lactotrophs: 1,852 nCPM
rod photoreceptor cells: 1,441 nCPM
thyrotrophs: 1,421 nCPM
somatotrophs: 1,337 nCPM
ependymal cells: 962 nCPM
choroid plexus epithelial cells: 908 nCPM

Immune cell

NK-cell: 7.5 nTPM
MAIT T-cell: 5.6 nTPM
T-reg: 5.6 nTPM
naive CD8 T-cell: 5.5 nTPM
memory CD8 T-cell: 5.3 nTPM
basophil: 5 nTPM

Brain region

choroid plexus: 28 nTPM
thalamus: 22 nTPM
basal ganglia: 21 nTPM
white matter: 21 nTPM
pons: 20 nTPM
midbrain: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS9.

Disease | AllUniProt

Conditions BBS9 is implicated in, by any mechanism.

Bardet-Biedl syndrome 9 (BBS9) MIM:615986

Disease | GeneticClinVar

149 pathogenic / likely-pathogenic of 1,262 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bardet-Biedl syndrome 9
Bardet-Biedl syndrome
BBS9-related disorder
Retinal dystrophy
Abnormality of the eye

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.84
gnomAD pLI: 0
gnomAD missense Z: 0.4
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Parathyroid hormone-responsive B1
PTHB1, N-terminal domain
PTHB1, GAE domain
PTHB1, platform domain
PTHB1, hairpin domain
PTHB1, C-terminal helix bundle domain
PTHB1 N-terminal
PTHB1 GAE domain
PTHB1 platform domain
PTHB1 hairpin
PTHB1 C-terminal helix bundle

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BBS9 as an antibody target. Whether an autoantibody or antibody against BBS9 could matter depends on whether native BBS9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BBS9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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