Seroatlas · Human Serome Atlas

BSN

Protein bassoon

Also known as: BSN_HUMAN, ZNF231

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

Protein identityUniProt · HPA

UniProt accession
Q9UPA5
Gene
BSN
Ensembl
ENSG00000164061
Chromosome
3
Canonical length
3926 aa
Protein class
Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

3926 residues, UniProt reviewed canonical sequence.

>Q9UPA5|BSN
     1  MGNEVSLEGG AGDGPLPPGG AGPGPGPGPG PGAGKPPSAP AGGGQLPAAG AARSTAVPPV
    61  PGPGPGPGPG PGPGSTSRRL DPKEPLGNQR AASPTPKQAS ATTPGHESPR ETRAQGPAGQ
   121  EADGPRRTLQ VDSRTQRSGR SPSVSPDRGS TPTSPYSVPQ IAPLPSSTLC PICKTSDLTS
   181  TPSQPNFNTC TQCHNKVCNQ CGFNPNPHLT QVKEWLCLNC QMQRALGMDM TTAPRSKSQQ
   241  QLHSPALSPA HSPAKQPLGK PDQERSRGPG GPQPGSRQAE TARATSVPGP AQAAAPPEVG
   301  RVSPQPPQPT KPSTAEPRPP AGEAPAKSAT AVPAGLGATE QTQEGLTGKL FGLGASLLTQ
   361  ASTLMSVQPE ADTQGQPAPS KGTPKIVFND ASKEAGPKPL GSGPGPGPAP GAKTEPGARM
   421  GPGSGPGALP KTGGTTSPKH GRAEHQAASK AAAKPKTMPK ERAICPLCQA ELNVGSKSPA
   481  NYNTCTTCRL QVCNLCGFNP TPHLVEKTEW LCLNCQTKRL LEGSLGEPTP LPPPTSQQPP
   541  VGAPHRASGT SPLKQKGPQG LGQPSGPLPA KASPLSTKAS PLPSKASPQA KPLRASEPSK
   601  TPSSVQEKKT RVPTKAEPMP KPPPETTPTP ATPKVKSGVR RAEPATPVVK AVPEAPKGGE
   661  AEDLVGKPYS QDASRSPQSL SDTGYSSDGI SSSQSEITGV VQQEVEQLDS AGVTGPHPPS
   721  PSEIHKVGSS MRPLLQAQGL APSERSKPLS SGTGEEQKQR PHSLSITPEA FDSDEELEDI
   781  LEEDEDSAEW RRRREQQDTA ESSDDFGSQL RHDYVEDSSE GGLSPLPPQP PARAAELTDE
   841  DFMRRQILEM SAEEDNLEED DTATSGRGLA KHGTQKGGPR PRPEPSQEPA ALPKRRLPHN
   901  ATTGYEELLP EGGSAEATDG SGTLQGGLRR FKTIELNSTG SYGHELDLGQ GPDPSLDREP
   961  ELEMESLTGS PEDRSRGEHS STLPASTPSY TSGTSPTSLS SLEEDSDSSP SRRQRLEEAK
  1021  QQRKARHRSH GPLLPTIEDS SEEEELREEE ELLREQEKMR EVEQQRIRST ARKTRRDKEE
  1081  LRAQRRRERS KTPPSNLSPI EDASPTEELR QAAEMEELHR SSCSEYSPSP SLDSEAEALD
  1141  GGPSRLYKSG SEYNLPTFMS LYSPTETPSG SSTTPSSGRP LKSAEEAYEE MMRKAELLQR
  1201  QQGQAAGARG PHGGPSQPTG PRGLGSFEYQ DTTDREYGQA AQPAAEGTPA SLGAAVYEEI
  1261  LQTSQSIVRM RQASSRDLAF AEDKKKEKQF LNAESAYMDP MKQNGGPLTP GTSPTQLAAP
  1321  VSFSTPTSSD SSGGRVIPDV RVTQHFAKET QDPLKLHSSP ASPSSASKEI GMPFSQGPGT
  1381  PATTAVAPCP AGLPRGYMTP ASPAGSERSP SPSSTAHSYG HSPTTANYGS QTEDLPQAPS
  1441  GLAAAGRAAR EKPLSASDGE GGTPQPSRAY SYFASSSPPL SPSSPSESPT FSPGKMGPRA
  1501  TAEFSTQTPS PAPASDMPRS PGAPTPSPMV AQGTQTPHRP STPRLVWQES SQEAPFMVIT
  1561  LASDASSQTR MVHASASTSP LCSPTETQPT THGYSQTTPP SVSQLPPEPP GPPGFPRVPS
  1621  AGADGPLALY GWGALPAENI SLCRISSVPG TSRVEPGPRT PGTAVVDLRT AVKPTPIILT
  1681  DQGMDLTSLA VEARKYGLAL DPIPGRQSTA VQPLVINLNA QEHTFLATAT TVSITMASSV
  1741  FMAQQKQPVV YGDPYQSRLD FGQGGGSPVC LAQVKQVEQA VQTAPYRSGP RGRPREAKFA
  1801  RYNLPNQVAP LARRDVLITQ MGTAQSIGLK PGPVPEPGAE PHRATPAELR SHALPGARKP
  1861  HTVVVQMGEG TAGTVTTLLP EEPAGALDLT GMRPESQLAC CDMVYKLPFG SSCTGTFHPA
  1921  PSVPEKSMAD AAPPGQSSSP FYGPRDPEPP EPPTYRAQGV VGPGPHEEQR PYPQGLPGRL
  1981  YSSMSDTNLA EAGLNYHAQR IGQLFQGPGR DSAMDLSSLK HSYSLGFADG RYLGQGLQYG
  2041  SVTDLRHPTD LLAHPLPMRR YSSVSNIYSD HRYGPRGDAV GFQEASLAQY SATTAREISR
  2101  MCAALNSMDQ YGGRHGSGGG GPDLVQYQPQ HGPGLSAPQS LVPLRPGLLG NPTFPEGHPS
  2161  PGNLAQYGPA AGQGTAVRQL LPSTATVRAA DGMIYSTINT PIAATLPITT QPASVLRPMV
  2221  RGGMYRPYAS GGITAVPLTS LTRVPMIAPR VPLGPTGLYR YPAPSRFPIA SSVPPAEGPV
  2281  YLGKPAAAKA PGAGGPSRPE MPVGAAREEP LPTTTPAAIK EAAGAPAPAP LAGQKPPADA
  2341  APGGGSGALS RPGFEKEEAS QEERQRKQQE QLLQLERERV ELEKLRQLRL QEELERERVE
  2401  LQRHREEEQL LVQRELQELQ TIKHHVLQQQ QEERQAQFAL QREQLAQQRL QLEQIQQLQQ
  2461  QLQQQLEEQK QRQKAPFPAA CEAPGRGPPL AAAELAQNGQ YWPPLTHAAF IAMAGPEGLG
  2521  QPREPVLHRG LPSSASDMSL QTEEQWEASR SGIKKRHSMP RLRDACELES GTEPCVVRRI
  2581  ADSSVQTDDE DGESRYLLSR RRRARRSADC SVQTDDEDSA EWEQPVRRRR SRLPRHSDSG
  2641  SDSKHDATAS SSSAAATVRA MSSVGIQTIS DCSVQTEPDQ LPRVSPAIHI TAATDPKVEI
  2701  VRYISAPEKT GRGESLACQT EPDGQAQGVA GPQLVGPTAI SPYLPGIQIV TPGPLGRFEK
  2761  KKPDPLEIGY QAHLPPESLS QLVSRQPPKS PQVLYSPVSP LSPHRLLDTS FASSERLNKA
  2821  HVSPQKHFTA DSALRQQTLP RPMKTLQRSL SDPKPLSPTA EESAKERFSL YQHQGGLGSQ
  2881  VSALPPNSLV RKVKRTLPSP PPEEAHLPLA GQASPQLYAA SLLQRGLTGP TTVPATKASL
  2941  LRELDRDLRL VEHESTKLRK KQAELDEEEK EIDAKLKYLE LGITQRKESL AKDRGGRDYP
  3001  PLRGLGEHRD YLSDSELNQL RLQGCTTPAG QFVDFPATAA APATPSGPTA FQQPRFQPPA
  3061  PQYSAGSGGP TQNGFPAHQA PTYPGPSTYP APAFPPGASY PAEPGLPNQQ AFRPTGHYAG
  3121  QTPMPTTQST LFPVPADSRA PLQKPRQTSL ADLEQKVPTN YEVIASPVVP MSSAPSETSY
  3181  SGPAVSSGYE QGKVPEVPRA GDRGSVSQSP APTYPSDSHY TSLEQNVPRN YVMIDDISEL
  3241  TKDSTSTAPD SQRLEPLGPG SSGRPGKEPG EPGVLDGPTL PCCYARGEEE SEEDSYDPRG
  3301  KGGHLRSMES NGRPASTHYY GDSDYRHGAR VEKYGPGPMG PKHPSKSLAP AAISSKRSKH
  3361  RKQGMEQKIS KFSPIEEAKD VESDLASYPP PAVSSSLVSR GRKFQDEITY GLKKNVYEQQ
  3421  KYYGMSSRDA VEDDRIYGGS SRSRAPSAYS GEKLSSHDFS GWGKGYERER EAVERLQKAG
  3481  PKPSSLSMAH SRVRPPMRSQ ASEEESPVSP LGRPRPAGGP LPPGGDTCPQ FCSSHSMPDV
  3541  QEHVKDGPRA HAYKREEGYI LDDSHCVVSD SEAYHLGQEE TDWFDKPRDA RSDRFRHHGG
  3601  HAVSSSSQKR GPARHSYHDY DEPPEEGLWP HDEGGPGRHA SAKEHRHGDH GRHSGRHTGE
  3661  EPGRRAAKPH ARDLGRHEAR PHSQPSSAPA MPKKGQPGYP SSAEYSQPSR ASSAYHHASD
  3721  SKKGSRQAHS GPAALQSKAE PQAQPQLQGR QAAPGPQQSQ SPSSRQIPSG AASRQPQTQQ
  3781  QQQGLGLQPP QQALTQARLQ QQSQPTTRGS APAASQPAGK PQPGPSTATG PQPAGPPRAE
  3841  QTNGSKGTAK APQQGRAPQA QPAPGPGPAG VKAGARPGGT PGAPAGQPGA DGESVFSKIL
  3901  PGGAAEQAGK LTEAVSAFGK KFSSFW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BSN 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
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 29 nTPM
  • cerebral cortex: 21 nTPM
  • amygdala: 11 nTPM
  • hippocampal formation: 11 nTPM
  • basal ganglia: 9.2 nTPM
  • hypothalamus: 5 nTPM

Single-cell type

  • brain excitatory neurons: 101 nCPM
  • brain inhibitory neurons: 74 nCPM
  • retinal amacrine cells: 72 nCPM
  • lactotrophs: 68 nCPM
  • thyrotrophs: 67 nCPM
  • retinal horizontal cells: 58 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 200 nTPM
  • hippocampal formation: 145 nTPM
  • white matter: 139 nTPM
  • amygdala: 137 nTPM
  • basal ganglia: 126 nTPM
  • cerebellum: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BSN.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 802 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • BSN-associated seizure disorder
  • BSN-related disorder
  • Epilepsy
  • BSN-associated epilepsy
  • BSN-associated neurodevelopmental disorder

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)
0.18
gnomAD pLI
1
gnomAD missense Z
1.26
DepMap mean gene effect
-0.26
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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