Seroatlas · Human Serome Atlas

BBIP1

BBSome-interacting protein 1

Also known as: bA348N5.3, BBIP1_HUMAN, BBIP10, BBS18, NCRNA00081

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

Protein identityUniProt · HPA

UniProt accession
A8MTZ0
Gene
BBIP1
Ensembl
ENSG00000214413
Chromosome
10
Canonical length
92 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

92 residues, UniProt reviewed canonical sequence.

>A8MTZ0|BBIP1
     1  MLKAAAKRPE LSGKNTISNN SDMAEVKSMF REVLPKQGPL FVEDIMTMVL CKPKLLPLKS
    61  LTLEKLEKMH QAAQNTIRQQ EMAEKDQRQI TH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBIP1 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)
0.66
Highest tissue expression
96 nTPM

Expression across tissuesHPA

Tissue

  • testis: 96 nTPM
  • retina: 46 nTPM
  • spinal cord: 42 nTPM
  • midbrain: 35 nTPM
  • hippocampal formation: 31 nTPM
  • amygdala: 30 nTPM

Single-cell type

  • late primary spermatocytes: 1,005 nCPM
  • late spermatids: 696 nCPM
  • early spermatids: 531 nCPM
  • early primary spermatocytes: 192 nCPM
  • respiratory ciliated cells: 124 nCPM
  • adrenal medulla cells: 106 nCPM

Immune cell

  • neutrophil: 54 nTPM
  • eosinophil: 48 nTPM
  • basophil: 26 nTPM
  • T-reg: 19 nTPM
  • naive CD4 T-cell: 18 nTPM
  • intermediate monocyte: 15 nTPM

Brain region

  • white matter: 49 nTPM
  • basal ganglia: 35 nTPM
  • cerebellum: 35 nTPM
  • medulla oblongata: 34 nTPM
  • cerebral cortex: 31 nTPM
  • spinal cord: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBIP1.

Disease | AllUniProt

Conditions BBIP1 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 112 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)
1.57
gnomAD pLI
0
gnomAD missense Z
0.52
DepMap mean gene effect
0.05
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Cilia BBSome complex subunit 10
  • Cilia BBSome complex subunit 10

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBIP1 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 BBIP1 as an antibody target. Whether an autoantibody or antibody against BBIP1 could matter depends on whether native BBIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBIP1 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 BBIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BBIP1. 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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