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P78314 (3BP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SH3 domain-binding protein 2

Short name=3BP-2
Gene names
Name:SH3BP2
Synonyms:3BP2
ORF Names:RES4-23
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length561 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Ref.3

Post-translational modification

Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase By similarity.

Involvement in disease

Cherubism (CRBM) [MIM:118400]: An autosomal dominant 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13

Sequence similarities

Contains 1 PH domain.

Contains 1 SH2 domain.

Ontologies

Alternative products

This entry describes 3 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.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 3 (identifier: P78314-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASLGPRTPAPSRSRGRRAMCWVSTISFM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 561561SH3 domain-binding protein 2
PRO_0000064365

Regions

Domain26 – 130105PH
Domain457 – 55599SH2
Motif201 – 21010SH3-binding
Compositional bias205 – 2128Poly-Pro
Compositional bias236 – 2405Poly-Pro

Amino acid modifications

Modified residue1741Phosphotyrosine; by SYK By similarity
Modified residue1831Phosphotyrosine; by SYK By similarity
Modified residue2781Phosphoserine Ref.9
Modified residue4481Phosphotyrosine; by SYK By similarity

Natural variations

Alternative sequence11M → MASLGPRTPAPSRSRGRRAM CWVSTISFM in isoform 3.
VSP_043636
Alternative sequence81 – 9717VMRAA…VFPFK → QPRPQPAQALSQTEAGP in isoform Short.
VSP_004085
Alternative sequence98 – 561464Missing in isoform Short.
VSP_004086
Natural variant4151R → P in CRBM. Ref.11
VAR_013257
Natural variant4151R → Q in CRBM. Ref.11
VAR_013258
Natural variant4181P → H in CRBM. Ref.11
VAR_013259
Natural variant4181P → L in CRBM. Ref.11
VAR_013260
Natural variant4181P → R in CRBM. Ref.11 Ref.13
VAR_013261
Natural variant4201G → E in CRBM. Ref.11
Corresponds to variant rs28938171 [ dbSNP | Ensembl ].
VAR_013262
Natural variant4201G → R in CRBM. Ref.11 Ref.12
Corresponds to variant rs28938170 [ dbSNP | Ensembl ].
VAR_013263

Experimental info

Sequence conflict271V → L in AAB59973. Ref.3
Sequence conflict2241H → N in AAB59973. Ref.3
Sequence conflict2491L → R in AAB59973. Ref.3
Sequence conflict2511A → P in AAB59973. Ref.3

Secondary structure

....................... 561
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified July 15, 1998. Version 2.
Checksum: 69E6846A4F6D8F15

FASTA56162,244
        10         20         30         40         50         60 
MAAEEMHWPV PMKAIGAQNL LTMPGGVAKA GYLHKKGGTQ LQLLKWPLRF VIIHKRCVYY 

        70         80         90        100        110        120 
FKSSTSASPQ GAFSLSGYNR VMRAAEETTS NNVFPFKIIH ISKKHRTWFF SASSEEERKS 

       130        140        150        160        170        180 
WMALLRREIG HFHEKKDLPL DTSDSSSDTD SFYGAVERPV DISLSPYPTD NEDYEHDDED 

       190        200        210        220        230        240 
DSYLEPDSPE PGRLEDALMH PPAYPPPPVP TPRKPAFSDM PRAHSFTSKG PGPLLPPPPP 

       250        260        270        280        290        300 
KHGLPDVGLA AEDSKRDPLC PRRAEPCPRV PATPRRMSDP PLSTMPTAPG LRKPPCFRES 

       310        320        330        340        350        360 
ASPSPEPWTP GHGACSTSSA AIMATATSRN CDKLKSFHLS PRGPPTSEPP PVPANKPKFL 

       370        380        390        400        410        420 
KIAEEDPPRE AAMPGLFVPP VAPRPPALKL PVPEAMARPA VLPRPEKPQL PHLQRSPPDG 

       430        440        450        460        470        480 
QSFRSFSFEK PRQPSQADTG GDDSDEDYEK VPLPNSVFVN TTESCEVERL FKATSPRGEP 

       490        500        510        520        530        540 
QDGLYCIRNS STKSGKVLVV WDETSNKVRN YRIFEKDSKF YLEGEVLFVS VGSMVEHYHT 

       550        560 
HVLPSHQSLL LRHPYGYTGP R 

« Hide

Isoform Short [UniParc].

Checksum: 58CB0FBE9EB3A7FF
Show »

FASTA9710,624
Isoform 3 [UniParc].

Checksum: B41A1B1688245A77
Show »

FASTA58965,305

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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), TISSUE SPECIFICITY.
Tissue: Brain.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS LONG AND 3).
Tissue: Cerebellum.
[5]"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. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
Tissue: Cervix.
[8]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[9]"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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"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.
[11]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420.
[12]"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] [Europe PMC] [Abstract]
Cited for: VARIANT CRBM ARG-420.
[13]"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] [Europe PMC] [Abstract]
Cited for: VARIANT CRBM ARG-418.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF000936 mRNA. Translation: AAB59973.1.
U56386 mRNA. Translation: AAB72034.1.
AB000462 mRNA. Translation: BAA19119.1.
AB000463 mRNA. Translation: BAA19120.1.
AK299996 mRNA. Translation: BAG61816.1.
AK312286 mRNA. Translation: BAG35213.1.
AL121750 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82509.1.
CH471131 Genomic DNA. Translation: EAW82510.1.
CH471131 Genomic DNA. Translation: EAW82511.1.
CH471131 Genomic DNA. Translation: EAW82512.1.
BC022996 mRNA. Translation: AAH22996.1.
RefSeqNP_001116153.1. NM_001122681.1.
NP_001139327.1. NM_001145855.1.
NP_001139328.1. NM_001145856.1.
NP_003014.3. NM_003023.4.
XP_005248056.1. XM_005247999.2.
UniGeneHs.167679.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CR4NMR-A446-558[»]
3TWRX-ray1.55E/F/G/H410-425[»]
ProteinModelPortalP78314.
SMRP78314. Positions 27-122, 444-560.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112350. 17 interactions.
IntActP78314. 17 interactions.
MINTMINT-254189.
STRING9606.ENSP00000348685.

PTM databases

PhosphoSiteP78314.

Polymorphism databases

DMDM3023207.

Proteomic databases

PaxDbP78314.
PRIDEP78314.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356331; ENSP00000348685; ENSG00000087266. [P78314-1]
ENST00000389838; ENSP00000374488; ENSG00000087266. [P78314-2]
ENST00000435136; ENSP00000403231; ENSG00000087266. [P78314-1]
ENST00000442312; ENSP00000388152; ENSG00000087266. [P78314-3]
ENST00000452765; ENSP00000409746; ENSG00000087266. [P78314-1]
ENST00000511747; ENSP00000424846; ENSG00000087266. [P78314-1]
ENST00000513020; ENSP00000424072; ENSG00000087266. [P78314-2]
ENST00000515737; ENSP00000422605; ENSG00000087266. [P78314-2]
GeneID6452.
KEGGhsa:6452.
UCSCuc003gfi.4. human. [P78314-1]
uc011bvp.2. human. [P78314-3]

Organism-specific databases

CTD6452.
GeneCardsGC04P002831.
HGNCHGNC:10825. SH3BP2.
HPAHPA036790.
MIM118400. phenotype.
602104. gene.
neXtProtNX_P78314.
Orphanet184. Cherubism.
PharmGKBPA35733.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42035.
HOVERGENHBG000016.
InParanoidP78314.
KOK07984.
OrthoDBEOG7DRJ2X.
PhylomeDBP78314.

Enzyme and pathway databases

SignaLinkP78314.

Gene expression databases

ArrayExpressP78314.
BgeeP78314.
CleanExHS_SH3BP2.
GenevestigatorP78314.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
3.30.505.10. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR000980. SH2.
[Graphical view]
PfamPF00169. PH. 1 hit.
PF00017. SH2. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00252. SH2. 1 hit.
[Graphical view]
SUPFAMSSF55550. SSF55550. 1 hit.
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS50001. SH2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSH3BP2. human.
EvolutionaryTraceP78314.
GenomeRNAi6452.
NextBio25079.
PROP78314.
SOURCESearch...

Entry information

Entry name3BP2_HUMAN
AccessionPrimary (citable) accession number: P78314
Secondary accession number(s): A6NNC2 expand/collapse secondary AC list , B2R5R6, B4DT04, D3DVR0, O00500, O15373, P78315
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: April 16, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM