Seroatlas · Human Serome Atlas

BBS5

BBSome complex member BBS5

Also known as: BBS5_HUMAN, DKFZp762I194

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

Protein identityUniProt · HPA

UniProt accession
Q8N3I7
Gene
BBS5
Ensembl
ENSG00000163093
Chromosome
2
Canonical length
341 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Basal body,Cytosol,Acrosome,Perinuclear theca

OverviewNCBI Gene

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

341 residues, UniProt reviewed canonical sequence.

>Q8N3I7|BBS5
     1  MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH
    61  SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL
   121  FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF
   181  FITNVRIVWH ANMNDSFNVS IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV
   241  EKLQESVKEI NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDGHTDAFV
   301  AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS5 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
11 nTPM

Expression across tissuesHPA

Tissue

  • retina: 11 nTPM
  • hippocampal formation: 9.6 nTPM
  • testis: 9.2 nTPM
  • amygdala: 9.1 nTPM
  • cerebral cortex: 9.1 nTPM
  • basal ganglia: 9 nTPM

Single-cell type

  • late primary spermatocytes: 249 nCPM
  • early spermatids: 173 nCPM
  • ependymal cells: 129 nCPM
  • choroid plexus epithelial cells: 60 nCPM
  • brain inhibitory neurons: 42 nCPM
  • brain excitatory neurons: 41 nCPM

Immune cell

  • gdT-cell: 0.3 nTPM
  • naive CD8 T-cell: 0.2 nTPM
  • memory CD4 T-cell: 0.1 nTPM
  • naive CD4 T-cell: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM

Brain region

  • choroid plexus: 30 nTPM
  • medulla oblongata: 28 nTPM
  • hippocampal formation: 27 nTPM
  • midbrain: 27 nTPM
  • thalamus: 26 nTPM
  • cerebral cortex: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS5.

Disease | AllUniProt

Conditions BBS5 is implicated in, by any mechanism.

Disease | GeneticClinVar

71 pathogenic / likely-pathogenic of 464 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.89
gnomAD pLI
0
gnomAD missense Z
0.85
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • PH-like domain superfamily
  • BBSome complex member BBS5
  • BBSome complex member BBS5, PH domain
  • BBSome complex member BBS5/sex-determination protein fem-3
  • Bardet-Biedl syndrome 5 protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS5 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 BBS5 as an antibody target. Whether an autoantibody or antibody against BBS5 could matter depends on whether native BBS5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS5 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 BBS5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BBS5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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