Seroatlas · Human Serome Atlas

BBS4

BBSome complex member BBS4

Also known as: BBS4_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96RK4
Gene
BBS4
Ensembl
ENSG00000140463
Chromosome
15
Canonical length
519 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Cytosol,Acrosome,Perinuclear theca,Flagellar centriole,Principal piece,Annulus

OverviewNCBI Gene

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein """"""""""""""""""""""""""""""""BBSome"""""""""""""""""""""""""""""""" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

519 residues, UniProt reviewed canonical sequence.

>Q96RK4|BBS4
     1  MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ
    61  ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA
   121  IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL
   181  EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL
   241  AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
   301  PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA
   361  YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM
   421  AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT
   481  LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS4 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)
0.34
Highest tissue expression
42 nTPM

Expression across tissuesHPA

Tissue

  • retina: 42 nTPM
  • choroid plexus: 29 nTPM
  • pituitary gland: 20 nTPM
  • prostate: 19 nTPM
  • testis: 19 nTPM
  • skeletal muscle: 18 nTPM

Single-cell type

  • cone photoreceptor cells: 151 nCPM
  • rod photoreceptor cells: 143 nCPM
  • thyrotrophs: 130 nCPM
  • early primary spermatocytes: 122 nCPM
  • respiratory ciliated cells: 115 nCPM
  • somatotrophs: 104 nCPM

Immune cell

  • NK-cell: 11 nTPM
  • naive B-cell: 6 nTPM
  • naive CD8 T-cell: 5.9 nTPM
  • T-reg: 5.8 nTPM
  • basophil: 5.5 nTPM
  • memory CD8 T-cell: 5.5 nTPM

Brain region

  • choroid plexus: 29 nTPM
  • pons: 18 nTPM
  • midbrain: 17 nTPM
  • hypothalamus: 16 nTPM
  • medulla oblongata: 15 nTPM
  • thalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS4.

Disease | AllUniProt

Conditions BBS4 is implicated in, by any mechanism.

Disease | GeneticClinVar

164 pathogenic / likely-pathogenic of 910 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)
1.18
gnomAD pLI
0
gnomAD missense Z
-0.96
DepMap mean gene effect
0.13
DepMap dependency class
none

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 BBS4 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 BBS4 as an antibody target. Whether an autoantibody or antibody against BBS4 could matter depends on whether native BBS4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS4 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 BBS4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BBS4. 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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