Seroatlas · Human Serome Atlas

BBS7

BBSome complex member BBS7

Also known as: BBS2L1, BBS7_HUMAN, FLJ10715

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

Protein identityUniProt · HPA

UniProt accession: Q8IWZ6
Gene: BBS7
Ensembl: ENSG00000138686
Chromosome: 4
Canonical length: 715 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

715 residues, UniProt reviewed canonical sequence.

>Q8IWZ6|BBS7
     1  MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK KGEAAAVFKT
    61  LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF LSFETNLTES IKAMHISGSD
   121  LFLSASYIYN HYCDCKDQHY YLSGDKINDV ICLPVERLSR ITPVLACQDR VLRVLQGSDV
   181  MYAVEVPGPP TVLALHNGNG GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG
   241  ILCIDSFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD
   301  SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE HLQYKVLQER
   361  ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV QTAIDNVLIQ SDVPIDLLDV
   421  DKNSAVVSFS SCDSESNDNF LLATYRCQAD TTRLELKIRS IEGQYGTLQA YVTPRIQPKT
   481  CQVRQYHIKP LSLHQRTHFI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC
   541  VTFYFQNTFL DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV
   601  SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL EEADHLQEEY
   661  KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIS FFDAA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS7 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): 0.25
Highest tissue expression: 52 nTPM

Expression across tissuesHPA

Tissue

retina: 52 nTPM
cerebral cortex: 14 nTPM
cerebellum: 12 nTPM
endometrium: 9.8 nTPM
ovary: 9.8 nTPM
smooth muscle: 9.6 nTPM

Single-cell type

rod photoreceptor cells: 220 nCPM
cone photoreceptor cells: 151 nCPM
early primary spermatocytes: 88 nCPM
lactotrophs: 78 nCPM
somatotrophs: 67 nCPM
brain excitatory neurons: 66 nCPM

Immune cell

gdT-cell: 2 nTPM
NK-cell: 2 nTPM
memory CD8 T-cell: 1.8 nTPM
eosinophil: 1.7 nTPM
T-reg: 1.7 nTPM
naive CD8 T-cell: 1.6 nTPM

Brain region

cerebral cortex: 34 nTPM
cerebellum: 29 nTPM
pons: 27 nTPM
white matter: 26 nTPM
thalamus: 26 nTPM
midbrain: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS7.

Disease | AllUniProt

Conditions BBS7 is implicated in, by any mechanism.

Bardet-Biedl syndrome 7 (BBS7) MIM:615984

Disease | GeneticClinVar

139 pathogenic / likely-pathogenic of 856 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bardet-Biedl syndrome 7
Bardet-Biedl syndrome
BBS7-related disorder
Retinal dystrophy
Inborn genetic diseases

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): 0.74
gnomAD pLI: 0
gnomAD missense Z: 1.23
DepMap mean gene effect: -0.04
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

RNA polymerase II-specific DNA-binding transcription factor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

WD40/YVTN repeat-like-containing domain superfamily
WD40-repeat-containing domain superfamily
Bardet-Biedl syndrome 7 protein
BBS7, beta-propeller
BBS7, platform domain
BBS7, GAE domain
BBS7, helical hairpin
BBS7 hairpin
BBS7 GAE domain
BBS7 platform domain
BBS7 beta-propeller

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS7 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 BBS7 as an antibody target. Whether an autoantibody or antibody against BBS7 could matter depends on whether native BBS7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS7 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 BBS7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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