BOLL
Protein boule-like
Also known as: BOLL_HUMAN, BOULE
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N9W6
- Gene
- BOLL
- Ensembl
- ENSG00000152430
- Chromosome
- 2
- Canonical length
- 283 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Mid piece,Principal piece,End piece,Annulus
OverviewNCBI Gene
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
283 residues, UniProt reviewed canonical sequence.
>Q8N9W6|BOLL
1 MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR KFFSQYGSVK
61 EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD KKLNIGPAIR KQQVGIPRSS
121 IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA
181 YHYQATTQYL PGQWQWSVPQ PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS
241 VPEPYSDHGV QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BOLL 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)
- 0.58
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- testis: 46 nTPM
- skeletal muscle: 3.5 nTPM
- tongue: 1.2 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- late primary spermatocytes: 508 nCPM
- early primary spermatocytes: 217 nCPM
- late spermatids: 185 nCPM
- early spermatids: 137 nCPM
- differentiating spermatogonia: 52 nCPM
- myonuclei: 33 nCPM
Immune cell
- T-reg: 1.5 nTPM
- basophil: 0.1 nTPM
- memory CD4 T-cell: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 0.9 nTPM
- hippocampal formation: 0.7 nTPM
- thalamus: 0.7 nTPM
- white matter: 0.7 nTPM
- amygdala: 0.6 nTPM
- basal ganglia: 0.6 nTPM
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)
- 0.58
- gnomAD pLI
- 0.06
- gnomAD missense Z
- 0.87
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 3'-UTR-mediated mRNA stabilization
- cell differentiation
- meiotic cell cycle
- positive regulation of translational initiation
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BOLL 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 BOLL as an antibody target. Whether an autoantibody or antibody against BOLL could matter depends on whether native BOLL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BOLL 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 BOLL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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