Seroatlas · Human Serome Atlas

BBS12

Chaperonin-containing T-complex member BBS12

Also known as: BBS12_HUMAN, C4orf24, FLJ35630, FLJ41559

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

Protein identityUniProt · HPA

UniProt accession: Q6ZW61
Gene: BBS12
Ensembl: ENSG00000181004
Chromosome: 4
Canonical length: 710 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

710 residues, UniProt reviewed canonical sequence.

>Q6ZW61|BBS12
     1  MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI SSTVRLLESL
    61  DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE ECLHLGVPIS IIVSVMSEGL
   121  NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL ETFSVSLCPF LQVPSDTDLI EELHGLKDVA
   181  SQTLTISNLS GRPLKSYELF KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT
   241  DNTEGVSKPD GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ
   301  QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ NQPVRIVLIE
   361  GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV LQVLIQFKVN LVLVQGNVSE
   421  RLIEKCINSK RLVIGSVNGS VMQAFAEAAG AVQVAYITQV NEDCVGDGVC VTFWRSSPLD
   481  VVDRNNRIAI LLKTEGINLV TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG
   541  AVEFLCLSCL HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS
   601  TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS DISNKLEQIP
   661  RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN SQELTGFLFL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BBS12 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): 0.35
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

retina: 16 nTPM
kidney: 8.7 nTPM
thyroid gland: 8.7 nTPM
parathyroid gland: 7.5 nTPM
testis: 7.3 nTPM
fallopian tube: 4.7 nTPM

Single-cell type

late primary spermatocytes: 104 nCPM
rod photoreceptor cells: 41 nCPM
early spermatids: 27 nCPM
respiratory ciliated cells: 24 nCPM
fallopian tube ciliated cells: 15 nCPM
late spermatids: 13 nCPM

Immune cell

memory B-cell: 2.1 nTPM
memory CD8 T-cell: 2.1 nTPM
non-classical monocyte: 2.1 nTPM
eosinophil: 2 nTPM
naive CD4 T-cell: 1.9 nTPM
T-reg: 1.9 nTPM

Brain region

choroid plexus: 8.4 nTPM
hypothalamus: 5.9 nTPM
basal ganglia: 4.8 nTPM
cerebral cortex: 4.4 nTPM
midbrain: 4.3 nTPM
medulla oblongata: 4.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BBS12.

Disease | AllUniProt

Conditions BBS12 is implicated in, by any mechanism.

Bardet-Biedl syndrome 12 (BBS12) MIM:615989

Disease | GeneticClinVar

183 pathogenic / likely-pathogenic of 899 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bardet-Biedl syndrome
Bardet-Biedl syndrome 12
BBS12-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): 0.96
gnomAD pLI: 0
gnomAD missense Z: 0.34
DepMap mean gene effect: 0.16
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

ATP 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
Chaperonin-containing T-complex member BBS12

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BBS12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MKKS

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BBS12 as an antibody target. Whether an autoantibody or antibody against BBS12 could matter depends on whether native BBS12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BBS12 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 BBS12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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