Seroatlas · Human Serome Atlas

BBS1

BBSome complex member BBS1

Also known as: BBS1_HUMAN, FLJ23590

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

Protein identityUniProt · HPA

UniProt accession
Q8NFJ9
Gene
BBS1
Ensembl
ENSG00000174483
Chromosome
11
Canonical length
593 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Midbody

OverviewNCBI Gene

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>Q8NFJ9|BBS1
     1  MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG
    61  PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP
   121  YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS
   181  EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA
   241  KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
   301  VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD
   361  KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA
   421  QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST
   481  TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL
   541  VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS1 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)
0.3
Highest tissue expression
36 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 36 nTPM
  • fallopian tube: 26 nTPM
  • thyroid gland: 25 nTPM
  • ovary: 24 nTPM
  • cerebral cortex: 23 nTPM
  • kidney: 23 nTPM

Single-cell type

  • ependymal cells: 65 nCPM
  • choroid plexus epithelial cells: 51 nCPM
  • bergmann glia: 42 nCPM
  • brain inhibitory neurons: 38 nCPM
  • astrocytes: 36 nCPM
  • brain excitatory neurons: 35 nCPM

Immune cell

  • NK-cell: 3.1 nTPM
  • non-classical monocyte: 3 nTPM
  • MAIT T-cell: 2.6 nTPM
  • memory CD4 T-cell: 2.5 nTPM
  • memory B-cell: 2.2 nTPM
  • naive CD8 T-cell: 2.2 nTPM

Brain region

  • choroid plexus: 34 nTPM
  • midbrain: 34 nTPM
  • thalamus: 33 nTPM
  • cerebral cortex: 31 nTPM
  • hypothalamus: 31 nTPM
  • basal ganglia: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS1.

Disease | AllUniProt

Conditions BBS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

230 pathogenic / likely-pathogenic of 1,213 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)
0.98
gnomAD pLI
0
gnomAD missense Z
0.16
DepMap mean gene effect
-0.11
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS1 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 BBS1 as an antibody target. Whether an autoantibody or antibody against BBS1 could matter depends on whether native BBS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS1 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 BBS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BBS1. 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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