BBS10

Protein identityUniProt · HPA

UniProt accession

Q8TAM1

Gene

BBS10

Ensembl

ENSG00000179941

Chromosome

12

Canonical length

723 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

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 progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

723 residues, UniProt reviewed canonical sequence.

>Q8TAM1|BBS10
     1  MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN GGRLLEALHL
    61  EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI TDREKDPLMC ENIQTHGRHW
   121  KNCSRWKFIS QALLTFQTQI LDGIMDQYLS RHFLSIFSSA KERTLCRSSL ELLLEAYFCG
   181  RVGRNNHKFI SQLMCDYFFK CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV
   241  LQKDFSVYRP ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH
   301  LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP FVPPQAFSQC
   361  EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC GPVHGLIEQH EDALHGALKM
   421  LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN SGESYQAPDP GNGSIQRPYQ DTVAENKDAL
   481  EKTQTYLKVH SNLVIPDVEL ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL
   541  LKNNSTAYST RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL
   601  PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG KYSFPHTYIR
   661  AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT IDMVITVKRH PQKVHNQDSE
   721  DEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS10 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)

0.36

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS10.

Disease | AllUniProt

Conditions BBS10 is implicated in, by any mechanism.

• Bardet-Biedl syndrome 10 (BBS10) MIM:615987

Disease | GeneticClinVar

267 pathogenic / likely-pathogenic of 1,070 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome
• BBS10-related disorder
• Retinal dystrophy
• Bardet-Biedl syndrome 1

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)

1.36

gnomAD pLI

0

gnomAD missense Z

0.09

DepMap mean gene effect

-0.07

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

• chaperone-mediated protein complex assembly
• cone retinal bipolar cell differentiation
• intracellular protein localization
• negative regulation of neuron apoptotic process
• neuronal action potential
• non-motile cilium assembly
• photoreceptor cell maintenance
• regulation of protein-containing complex assembly
• response to endoplasmic reticulum stress
• response to light stimulus
• retinal cone cell differentiation
• retinal rod cell differentiation
• visual perception

Molecular functions

• ATP binding
• RNA polymerase II-specific DNA-binding transcription factor binding

Cellular components

• cilium

Protein domainsUniProt · Pfam · InterPro

• Chaperonin Cpn60/GroEL/TCP-1 family
• GroEL-like apical domain superfamily
• TCP-1-like chaperonin intermediate domain superfamily
• GroEL-like equatorial domain superfamily
• TCP-1/cpn60 chaperonin family
• BBSome complex assembly protein BBS10

KeywordsUniProt

• ATP-binding
• Bardet-Biedl syndrome
• Cell projection
• Chaperone
• Ciliopathy
• Intellectual disability
• Nucleotide-binding
• Obesity
• Sensory transduction
• Vision