Reviewed,
UniProtKB/Swiss-Prot P78314 (3BP2_HUMAN)
Last modified
November 25, 2008.
Version 79.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: SH3 domain-binding protein 2 Short name=3BP-2 | ||||||
| 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 | 561 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. |
| Tissue specificity | Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas. |
| Involvement in disease | Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. |
| Sequence similarities | Contains 1 PH domain. Contains 1 SH2 domain. |
Ontologies
Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing |
| Disease | Disease mutation |
| Domain | SH2 domain SH3-binding |
| PTM | Phosphoprotein |
| Technical term | 3D-structure |
Gene Ontology (GO) | |
| Biological process | signal transduction Ref.2 Traceable author statement. Source: ProtInc |
| Molecular function | SH3 domain binding Inferred from electronic annotation. Source: UniProtKB-KW SH3/SH2 adaptor activity Ref.2Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: P78314-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Short (identifier: P78314-2) The sequence of this isoform differs from the canonical sequence as follows: 81-97: VMRAAEETTSNNVFPFK → QPRPQPAQALSQTEAGP 98-561: Missing. | ||||||
| Notes: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 561 | 561 | SH3 domain-binding protein 2 | PRO_0000064365 | |||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||
| Domain | 26 – 130 | 105 | PH | ||||||||||||||||||||||||||||
| Domain | 457 – 555 | 99 | SH2 | ||||||||||||||||||||||||||||
| Motif | 201 – 210 | 10 | SH3-binding | ||||||||||||||||||||||||||||
| Compositional bias | 205 – 212 | 8 | Poly-Pro | ||||||||||||||||||||||||||||
| Compositional bias | 236 – 240 | 5 | Poly-Pro | ||||||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||||||
| Modified residue | 278 | 1 | Phosphoserine | ||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||
| Alternative sequence | 81 – 97 | 17 | VMRAA…VFPFK → QPRPQPAQALSQTEAGP in isoform Short. | VSP_004085 | |||||||||||||||||||||||||||
| Alternative sequence | 98 – 561 | 464 | Missing in isoform Short. | VSP_004086 | |||||||||||||||||||||||||||
| Natural variant | 415 | 1 | R → P in CRBM. | VAR_013257 | |||||||||||||||||||||||||||
| Natural variant | 415 | 1 | R → Q in CRBM. | VAR_013258 | |||||||||||||||||||||||||||
| Natural variant | 418 | 1 | P → H in CRBM. | VAR_013259 | |||||||||||||||||||||||||||
| Natural variant | 418 | 1 | P → L in CRBM. | VAR_013260 | |||||||||||||||||||||||||||
| Natural variant | 418 | 1 | P → R in CRBM. | VAR_013261 | |||||||||||||||||||||||||||
| Natural variant | 420 | 1 | G → E in CRBM. | VAR_013262 | |||||||||||||||||||||||||||
| Natural variant | 420 | 1 | G → R in CRBM. | VAR_013263 | |||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||
| Sequence conflict | 27 | 1 | V → L in AAB59973. Ref.3 | ||||||||||||||||||||||||||||
| Sequence conflict | 224 | 1 | H → N in AAB59973. Ref.3 | ||||||||||||||||||||||||||||
| Sequence conflict | 249 | 1 | L → R in AAB59973. Ref.3 | ||||||||||||||||||||||||||||
| Sequence conflict | 251 | 1 | A → P in AAB59973. Ref.3 | ||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||
| Turn | 455 – 457 | 3 | |||||||||||||||||||||||||||||
| Helix | 464 – 474 | 11 | |||||||||||||||||||||||||||||
| Beta strand | 485 – 489 | 5 | |||||||||||||||||||||||||||||
| Beta strand | 496 – 501 | 6 | |||||||||||||||||||||||||||||
| Turn | 503 – 505 | 3 | |||||||||||||||||||||||||||||
| Beta strand | 506 – 508 | 3 | |||||||||||||||||||||||||||||
| Beta strand | 514 – 516 | 3 | |||||||||||||||||||||||||||||
| Beta strand | 519 – 525 | 7 | |||||||||||||||||||||||||||||
| Beta strand | 527 – 530 | 4 | |||||||||||||||||||||||||||||
| Helix | 531 – 538 | 8 | |||||||||||||||||||||||||||||
| Beta strand | 544 – 548 | 5 | |||||||||||||||||||||||||||||
| Beta strand | 553 – 556 | 4 | |||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "3BP2 binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase c-FES to the cytoplasmic membrane in a phosphorylation dependent mechanism." Gokemeijer J., Deligiannidis K.E., Ligris K., Ernst T.J. Blood 88:473A-473A(1996) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Tonsil. |
| [2] | "Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer." Bell S.M., Shaw M., Jou Y.-S., Myers R.M., Knowles M.A. Genomics 44:163-170(1997) [PubMed: 9299232] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). |
| [3] | "The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3." Hadano S., Ishida Y., Ikeda J.-E. DNA Res. 5:177-186(1998) [PubMed: 9734812] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), TISSUE SPECIFICITY. Tissue: Brain. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Cervix. |
| [7] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, MASS SPECTROMETRY. |
| [9] | "Solution structure of the SH2 domain of human SH3BP2 protein." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 444-558. |
| [10] | "Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism." Ueki Y., Tiziani V., Santanna C., Fukai N., Maulik C., Garfinkle J., Ninomiya C., doAmaral C., Peters H., Habal M., Rhee-Morris L., Doss J.B., Kreiborg S., Olsen B.R., Reichenberger E. Nat. Genet. 28:125-126(2001) [PubMed: 11381256] [Abstract] Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420. |
| [11] | "Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism." Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S. Am. J. Med. Genet. A 121:37-40(2003) [PubMed: 12900899] [Abstract] Cited for: VARIANT CRBM ARG-420. |
| [12] | "A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism." Imai Y., Kanno K., Moriya T., Kayano S., Seino H., Matsubara Y., Yamada A. Cleft Palate Craniofac. J. 40:632-638(2003) [PubMed: 14577811] [Abstract] Cited for: VARIANT CRBM ARG-418. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF000936 mRNA. Translation: AAB59973.1. U56386 mRNA. Translation: AAB72034.1. AB000462 mRNA. Translation: BAA19119.1. AB000463 mRNA. Translation: BAA19120.1. AL121750 Genomic DNA. No translation available. CH471131 Genomic DNA. Translation: EAW82509.1. BC022996 mRNA. Translation: AAH22996.1. | |||||||||||||
| RefSeq | NP_001116153.1. NP_003014.3. | ||||||||||||
| UniGene | Hs.167679 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P78314. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P78314. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000087266. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 6452. | ||||||||||||
| KEGG | hsa:6452. | ||||||||||||
Organism-specific databases | |||||||||||||
| H-InvDB | HIX0004037. | ||||||||||||
| HGNC | HGNC:10825. SH3BP2. | ||||||||||||
| MIM | 118400. phenotype. 602104. gene. | ||||||||||||
| Orphanet | 184. Cherubism. | ||||||||||||
| PharmGKB | PA35733. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
| GeneCards | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | P78314. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P78314. | ||||||||||||
| CleanEx | HS_SH3BP2. | ||||||||||||
| GermOnline | ENSG00000087266. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001849. PH. IPR011993. PH_type. IPR000980. SH2. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:3.30.505.10. SH2. 1 hit. | ||||||||||||
| Pfam | PF00169. PH. 1 hit. PF00017. SH2. 1 hit. [Graphical view] | ||||||||||||
| ProDom | PD000093. SH2. 1 hit. [Graphical view] [Entries sharing at least one domain] | ||||||||||||
| SMART | SM00233. PH. 1 hit. SM00252. SH2. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS50003. PH_DOMAIN. 1 hit. PS50001. SH2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 25079. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | 3BP2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P78314 Secondary accession number(s): A6NNC2 P78315 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |
| Recent format changes Overview of recent format changes |

Clusters with


