Q9UPA5 (BSN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 87.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein bassoon Alternative name(s): Zinc finger protein 231 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 3926 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses By similarity. |
| Subunit structure | Interacts with ERC2/CAST1, RIMS1 and UNC13A. Part of a complex consisting of ERC2, RIMS1 and BSN By similarity. |
| Subcellular location | Cytoplasm By similarity. Cell junction › synapse › synaptosome By similarity. Cytoplasm › cytoskeleton. Note: Localized to the active zone of presynaptic density By similarity. |
| Tissue specificity | Exclusively expressed in brain. Ref.1 |
| Post-translational modification | Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization By similarity. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell junction Cytoplasm Cytoskeleton Synapse Synaptosome |
| Coding sequence diversity | Polymorphism |
| Domain | Coiled coil Repeat Zinc-finger |
| Ligand | Metal-binding Zinc |
| PTM | Glycoprotein Lipoprotein Myristate Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | synaptic transmission Traceable author statement. Source: ProtInc |
| Cellular component | cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytoplasmInferred from direct assay. Source: HPA microtubule cytoskeletonInferred from direct assay. Source: HPA nucleusInferred from direct assay. Source: HPA synaptosomeInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 3926 | 3925 | Protein bassoon | PRO_0000065002 | |||||
Regions | |||||||||
| Repeat | 571 – 577 | 7 | 1 | ||||||
| Repeat | 578 – 584 | 7 | 2 | ||||||
| Repeat | 585 – 591 | 7 | 3 | ||||||
| Zinc finger | 170 – 193 | 24 | C4-type Potential | ||||||
| Zinc finger | 198 – 220 | 23 | C4-type Potential | ||||||
| Zinc finger | 465 – 488 | 24 | C4-type Potential | ||||||
| Zinc finger | 493 – 515 | 23 | C4-type Potential | ||||||
| Region | 23 – 32 | 10 | 5 X 2 AA tandem repeats of P-G | ||||||
| Region | 61 – 74 | 14 | 7 X 2 AA tandem repeats of P-G | ||||||
| Region | 571 – 591 | 21 | 3 X 7 AA tandem repeats of K-A-S-P-[LQ]-[APS]-[KST] | ||||||
| Coiled coil | 1037 – 1092 | 56 | Potential | ||||||
| Coiled coil | 1181 – 1208 | 28 | Potential | ||||||
| Coiled coil | 1276 – 1294 | 19 | Potential | ||||||
| Coiled coil | 2351 – 2476 | 126 | Potential | ||||||
| Coiled coil | 2939 – 2981 | 43 | Potential | ||||||
| Compositional bias | 2600 – 2606 | 7 | Poly-Arg | ||||||
| Compositional bias | 2627 – 2632 | 6 | Poly-Arg | ||||||
| Compositional bias | 3775 – 3783 | 9 | Poly-Gln | ||||||
Amino acid modifications | |||||||||
| Modified residue | 6 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 108 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 138 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 143 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 145 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 970 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1009 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1092 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1095 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1098 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1104 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1106 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1126 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 1226 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1476 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1477 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1481 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1488 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1490 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1492 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1505 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1550 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1551 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2024 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2039 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 2068 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 2117 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2570 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2587 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 2614 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 2685 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2694 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 2799 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2802 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2813 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2849 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2851 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2857 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2899 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3013 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3291 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3373 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 3422 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 3423 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 3449 | 1 | Phosphotyrosine By similarity | ||||||
| Lipidation | 2 | 1 | N-myristoyl glycine By similarity | ||||||
| Glycosylation | 1343 | 1 | O-linked (GlcNAc) By similarity | ||||||
| Glycosylation | 1384 | 1 | O-linked (GlcNAc) By similarity | ||||||
| Glycosylation | 2314 | 1 | O-linked (GlcNAc) By similarity | ||||||
| Glycosylation | 2691 | 1 | O-linked (GlcNAc) By similarity | ||||||
| Glycosylation | 2936 | 1 | O-linked (GlcNAc) By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 741 | 1 | A → T. Corresponds to variant rs34762726 [ dbSNP | Ensembl ]. | VAR_055105 | |||||
| Natural variant | 1213 | 1 | G → D. Corresponds to variant rs35762866 [ dbSNP | Ensembl ]. | VAR_055106 | |||||
| Natural variant | 3863 | 1 | A → T. Ref.1 Ref.3 Ref.4 Corresponds to variant rs2005557 [ dbSNP | Ensembl ]. | VAR_055107 | |||||
Experimental info | |||||||||
| Sequence conflict | 3925 | 1 | F → L in AAC83555. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and mapping of ZNF231, a novel brain-specific gene encoding neuronal double zinc finger protein whose expression is enhanced in a neurodegenerative disorder, multiple system atrophy." Hashida H., Goto J., Zhao N., Takahashi N., Hirai M., Kanazawa I., Sakaki Y. Genomics 54:50-58(1998) [PubMed: 9806829] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT THR-3863. |
| [2] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed: 16641997] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene." Winter C., tom Dieck S., Boeckers T., Bockmann J., Kaempf U., Sanmarti-Vila L., Langnaese K., Altrock W., Stumm M., Soyke A., Wieacker P., Garner C.C., Gundelfinger E.D. Genomics 57:389-397(1999) [PubMed: 10329005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 77-3926, VARIANT THR-3863. |
| [4] | "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro." Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:307-313(1997) [PubMed: 9455477] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2357-3926, VARIANT THR-3863. Tissue: Brain. |
| [5] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-138 AND SER-143, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF052224 mRNA. Translation: AAC83555.1. AC099668 Genomic DNA. No translation available. AC104452 Genomic DNA. No translation available. Y18448 Y18451 Genomic DNA. Translation: CAA77176.1.AB007894 mRNA. Translation: BAA23707.1. |
| IPI | IPI00020153. |
| PIR | T00062. |
| RefSeq | NP_003449.2. NM_003458.3. |
| UniGene | Hs.194684. |
3D structure databases | |
| ProteinModelPortal | Q9UPA5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UPA5. 1 interaction. |
| STRING | Q9UPA5. |
PTM databases | |
| PhosphoSite | Q9UPA5. |
Polymorphism databases | |
| DMDM | 229463040. |
Proteomic databases | |
| PRIDE | Q9UPA5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296452; ENSP00000296452; ENSG00000164061. |
| GeneID | 8927. |
| KEGG | hsa:8927. |
| UCSC | uc003cxe.2. human. |
Organism-specific databases | |
| CTD | 8927. |
| GeneCards | GC03P049566. |
| H-InvDB | HIX0200466. |
| HGNC | HGNC:1117. BSN. |
| HPA | HPA034757. |
| MIM | 604020. gene. |
| neXtProt | NX_Q9UPA5. |
| PharmGKB | PA25434. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG09131. |
| GeneTree | ENSGT00600000084529. |
| HOGENOM | HBG447034. |
| HOVERGEN | HBG080934. |
| InParanoid | Q9UPA5. |
| OMA | GQYVDFP. |
| OrthoDB | EOG4G4GPH. |
| PhylomeDB | Q9UPA5. |
Gene expression databases | |
| ArrayExpress | Q9UPA5. |
| Bgee | Q9UPA5. |
| CleanEx | HS_BSN. |
| Genevestigator | Q9UPA5. |
| GermOnline | ENSG00000164061. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011011. Znf_FYVE_PHD. IPR008899. Znf_piccolo. IPR013083. Znf_RING/FYVE/PHD. [Graphical view] |
| Gene3D | G3DSA:3.30.40.10. Znf_RING/FYVE/PHD. 2 hits. |
| Pfam | PF05715. zf-piccolo. 2 hits. [Graphical view] |
| SUPFAM | SSF57903. FYVE_PHD_ZnF. 2 hits. |
| ProtoNet | Search... |
Other | |
| NextBio | 33566. |
| SOURCE | Search... |
Entry information
| Entry name | BSN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UPA5 Secondary accession number(s): O43161, Q7LGH3 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with