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Q9BYB0 (SHAN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SH3 and multiple ankyrin repeat domains protein 3

Short name=Shank3
Alternative name(s):
Proline-rich synapse-associated protein 2
Short name=ProSAP2
Gene names
Name:SHANK3
Synonyms:KIAA1650, PSAP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1741 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.

Subunit structure

May homomultimerize via its SAM domain By similarity. Interacts with DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini via its PDZ domain By similarity. Interacts with HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain By similarity. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with DBNL. Interacts (via PDZ domain) with PROSAPIP1 (via C-terminus) By similarity. Interacts with BAIAP2. Ref.6

Subcellular location

Cytoplasm By similarity. Cell junctionsynapse By similarity. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity. Note: Postsynaptic density of neuronal cells By similarity.

Tissue specificity

Expressed in the cerebral cortex and the cerebellum.

Involvement in disease

A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B.

Defects in SHANK3 are associated with autism spectrum disorders (ASD). ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). Ref.7

Schizophrenia 15 (SCZD15) [MIM:613950]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Contains 6 ANK repeats.

Contains 1 PDZ (DHR) domain.

Contains 1 SAM (sterile alpha motif) domain.

Contains 1 SH3 domain.

Ontologies

Keywords
   Cellular componentCell junction
Cell membrane
Cytoplasm
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseDisease mutation
Schizophrenia
   DomainANK repeat
Coiled coil
Repeat
SH3 domain
SH3-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processN-methyl-D-aspartate receptor clustering

Inferred from sequence or structural similarity. Source: BHF-UCL

alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

brain morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

dendritic spine morphogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

guanylate kinase-associated protein clustering

Inferred from sequence or structural similarity. Source: BHF-UCL

learning

Inferred from sequence or structural similarity. Source: BHF-UCL

locomotory exploration behavior

Inferred from sequence or structural similarity PubMed 21423165. Source: BHF-UCL

memory

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of cell volume

Inferred from sequence or structural similarity. Source: BHF-UCL

neuromuscular process controlling balance

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of dendritic spine development

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

positive regulation of excitatory postsynaptic membrane potential

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

positive regulation of glutamate receptor signaling pathway

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

positive regulation of long-term neuronal synaptic plasticity

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of synapse structural plasticity

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of synaptic transmission, glutamatergic

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

postsynaptic density assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of behavioral fear response

Inferred from sequence or structural similarity PubMed 21423165. Source: BHF-UCL

regulation of dendritic spine morphogenesis

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

regulation of long term synaptic depression

Inferred from sequence or structural similarity PubMed 21795692. Source: BHF-UCL

regulation of long-term synaptic potentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

social behavior

Inferred from sequence or structural similarity. Source: BHF-UCL

striatal medium spiny neuron differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

vocalization behavior

Inferred from sequence or structural similarity PubMed 21167025. Source: BHF-UCL

   Cellular_componentcell junction

Inferred from electronic annotation. Source: UniProtKB-KW

cilium membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

postsynaptic density

Inferred from sequence or structural similarity. Source: BHF-UCL

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionGKAP/Homer scaffold activity

Inferred from sequence or structural similarity. Source: BHF-UCL

ionotropic glutamate receptor binding

Inferred from sequence or structural similarity. Source: BHF-UCL

protein C-terminus binding

Inferred from sequence or structural similarity. Source: BHF-UCL

scaffold protein binding

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYB0-1)

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 2 (identifier: Q9BYB0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1536-1544: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17411741SH3 and multiple ankyrin repeat domains protein 3
PRO_0000174675

Regions

Repeat148 – 17831ANK 1
Repeat182 – 21130ANK 2
Repeat215 – 24531ANK 3
Repeat249 – 27830ANK 4
Repeat282 – 31130ANK 5
Repeat315 – 34531ANK 6
Domain472 – 53160SH3
Domain572 – 66695PDZ
Domain1678 – 174164SAM
Coiled coil1495 – 151521 Potential
Motif1411 – 14177SH3-binding Potential
Compositional bias679 – 6824Poly-Pro
Compositional bias720 – 7234Poly-Ala
Compositional bias815 – 931117Pro-rich
Compositional bias1233 – 1350118Pro-rich

Amino acid modifications

Modified residue1221Phosphotyrosine By similarity
Modified residue3751Phosphoserine By similarity
Modified residue3951Phosphoserine By similarity
Modified residue5571Phosphotyrosine By similarity
Modified residue5661Phosphotyrosine By similarity
Modified residue7831Phosphoserine By similarity
Modified residue11591Phosphoserine Ref.8
Modified residue11631Phosphoserine Ref.8
Modified residue12351Phosphothreonine Ref.9
Modified residue12541Phosphoserine Ref.9
Modified residue16441Phosphoserine By similarity

Natural variations

Alternative sequence1536 – 15449Missing in isoform 2.
VSP_026160
Natural variant121R → C. Ref.7
VAR_032804
Natural variant1981A → G. Ref.7
VAR_032805
Natural variant2241A → T. Ref.7
VAR_032806
Natural variant2451I → T. Ref.10
Corresponds to variant rs9616915 [ dbSNP | Ensembl ].
VAR_032807
Natural variant3001R → C. Ref.7
VAR_032808
Natural variant4941H → Q. Ref.10
VAR_065799
Natural variant5371R → W in SCZD15. Ref.10
VAR_065800
Natural variant7211A → T. Ref.10
VAR_065801
Natural variant9531S → T. Ref.10
VAR_065802
Natural variant10111G → V. Ref.10
VAR_065803
Natural variant11351P → H.
VAR_065804
Natural variant12991R → K. Ref.10
VAR_065805
Natural variant13341V → G. Ref.10
VAR_065806
Natural variant15561I → V. Ref.10
VAR_065807
Natural variant16551P → T. Ref.10
VAR_065808

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 12, 2007. Version 2.
Checksum: 0CC40F1F53E6F6D4

FASTA1,741186,295
        10         20         30         40         50         60 
MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA LNYGLFQPPS 

        70         80         90        100        110        120 
RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN LIDDKQFAKL HTKANLKKFM 

       130        140        150        160        170        180 
DYVQLHSTDK VARLLDKGLD PNFHDPDSGE CPLSLAAQLD NATDLLKVLK NGGAHLDFRT 

       190        200        210        220        230        240 
RDGLTAVHCA TRQRNAAALT TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH 

       250        260        270        280        290        300 
AQLGITDENG WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 

       310        320        330        340        350        360 
VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP SYAKRRRLAG 

       370        380        390        400        410        420 
PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL LLQRLQEEKD RDRDADQESN 

       430        440        450        460        470        480 
ISGPLAGRAG QSKISEPGAP RSCIRIRARF PAPPAPPAPP PRGPKRKLYS AVPGRKFIAV 

       490        500        510        520        530        540 
KAHSPQGEGE IPLHRGEAVK VLSIGEGGFW EGTVKGRTGW FPADCVEEVQ MRQHDTRPET 

       550        560        570        580        590        600 
REDRTKRLFR HYTVGSYDSL TSHSDYVIDD KVAVLQKRDH EGFGFVLRGA KAETPIEEFT 

       610        620        630        640        650        660 
PTPAFPALQY LESVDVEGVA WRAGLRTGDF LIEVNGVNVV KVGHKQVVAL IRQGGNRLVM 

       670        680        690        700        710        720 
KVVSVTRKPE EDGARRRAPP PPKRAPSTTL TLRSKSMTAE LEELASIRRR KGEKLDEMLA 

       730        740        750        760        770        780 
AAAEPTLRPD IADADSRAAT VKQRPTSRRI TPAEISSLFE RQGLPGPEKL PGSLRKGIPR 

       790        800        810        820        830        840 
TKSVGEDEKL ASLLEGRFPR STSMQDPVRE GRGIPPPPQT APPPPPAPYY FDSGPPPAFS 

       850        860        870        880        890        900 
PPPPPGRAYD TVRSSFKPGL EARLGAGAAG LYEPGAALGP LPYPERQKRA RSMIILQDSA 

       910        920        930        940        950        960 
PESGDAPRPP PAATPPERPK RRPRPPGPDS PYANLGAFSA SLFAPSKPQR RKSPLVKQLQ 

       970        980        990       1000       1010       1020 
VEDAQERAAL AVGSPGPGGG SFAREPSPTH RGPRPGGLDY GAGDGPGLAF GGPGPAKDRR 

      1030       1040       1050       1060       1070       1080 
LEERRRSTVF LSVGAIEGSA PGADLPSLQP SRSIDERLLG TGPTAGRDLL LPSPVSALKP 

      1090       1100       1110       1120       1130       1140 
LVSGPSLGPS GSTFIHPLTG KPLDPSSPLA LALAARERAL ASQAPSRSPT PVHSPDADRP 

      1150       1160       1170       1180       1190       1200 
GPLFVDVQAR DPERGSLASP AFSPRSPAWI PVPARREAEK VPREERKSPE DKKSMILSVL 

      1210       1220       1230       1240       1250       1260 
DTSLQRPAGL IVVHATSNGQ EPSRLGGAEE ERPGTPELAP APMQSAAVAE PLPSPRAQPP 

      1270       1280       1290       1300       1310       1320 
GGTPADAGPG QGSSEEEPEL VFAVNLPPAQ LSSSDEETRE ELARIGLVPP PEEFANGVLL 

      1330       1340       1350       1360       1370       1380 
ATPLAGPGPS PTTVPSPASG KPSSEPPPAP ESAADSGVEE ADTRSSSDPH LETTSTISTV 

      1390       1400       1410       1420       1430       1440 
SSMSTLSSES GELTDTHTSF ADGHTFLLEK PPVPPKPKLK SPLGKGPVTF RDPLLKQSSD 

      1450       1460       1470       1480       1490       1500 
SELMAQQHHA ASAGLASAAG PARPRYLFQR RSKLWGDPVE SRGLPGPEDD KPTVISELSS 

      1510       1520       1530       1540       1550       1560 
RLQQLNKDTR SLGEEPVGGL GSLLDPAKKS PIAAARCRSP MVGLRLFSSL GELSSISAQR 

      1570       1580       1590       1600       1610       1620 
SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP FGLTPPTILK 

      1630       1640       1650       1660       1670       1680 
SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG PGAPGPRRPF QQKPLQLWSK 

      1690       1700       1710       1720       1730       1740 
FDVGDWLESI HLGEHRDRFE DHEIEGAHLP ALTKDDFVEL GVTRVGHRMN IERALRQLDG 


S 

« Hide

Isoform 2 [UniParc].

Checksum: E12CDA1DC84A9326
Show »

FASTA1,732185,295

References

« Hide 'large scale' references
[1]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 936-1741 (ISOFORM 2).
[3]"The nucleotide sequence of a long cDNA clone isolated from human spleen."
Ohara O., Nagase T., Kikuno R., Okumura K.
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 963-1741 (ISOFORM 2).
Tissue: Spleen.
[4]"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome."
Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., Zuffardi O.
Am. J. Hum. Genet. 69:261-268(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH APPL2.
[5]"The Shank family of scaffold proteins."
Sheng M., Kim E.
J. Cell Sci. 113:1851-1856(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[6]"The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42."
Soltau M., Richter D., Kreienkamp H.-J.
Mol. Cell. Neurosci. 21:575-583(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BAIAP2.
[7]"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders."
Durand C.M., Betancur C., Boeckers T.M., Bockmann J., Chaste P., Fauchereau F., Nygren G., Rastam M., Gillberg I.C., Anckarsaeter H., Sponheim E., Goubran-Botros H., Delorme R., Chabane N., Mouren-Simeoni M.-C., de Mas P., Bieth E., Roge B. expand/collapse author list , Heron D., Burglen L., Gillberg C., Leboyer M., Bourgeron T.
Nat. Genet. 39:25-27(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ASD, VARIANTS CYS-12; GLY-198; THR-224 AND CYS-300.
[8]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1159 AND SER-1163, MASS SPECTROMETRY.
Tissue: Platelet.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1235 AND SER-1254, MASS SPECTROMETRY.
Tissue: Leukemic T-cell.
[10]"De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia."
Gauthier J., Champagne N., Lafreniere R.G., Xiong L., Spiegelman D., Brustein E., Lapointe M., Peng H., Cote M., Noreau A., Hamdan F.F., Addington A.M., Rapoport J.L., Delisi L.E., Krebs M.O., Joober R., Fathalli F., Mouaffak F. expand/collapse author list , Haghighi A.P., Neri C., Dube M.P., Samuels M.E., Marineau C., Stone E.A., Awadalla P., Barker P.A., Carbonetto S., Drapeau P., Rouleau G.A.
Proc. Natl. Acad. Sci. U.S.A. 107:7863-7868(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCZD15 TRP-537, VARIANTS THR-245; GLN-494; THR-721; THR-953; VAL-1011; LYS-1299; GLY-1334; VAL-1556 AND THR-1655.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC000050 Genomic DNA. No translation available.
AC000036 Genomic DNA. No translation available.
AB051437 mRNA. Translation: BAB33320.1.
AK074038 mRNA. Translation: BAB84864.1.
IPIIPI00019794.
IPI00847618.
RefSeqNP_277052.1. NM_033517.1.
UniGeneHs.149035.

3D structure databases

ProteinModelPortalQ9BYB0.
ModBaseSearch...

Protein-protein interaction databases

DIPDIP-52267N.
IntActQ9BYB0. 27 interactions.
MINTMINT-4134553.
STRING9606.ENSP00000262795.

PTM databases

PhosphoSiteQ9BYB0.

Polymorphism databases

DMDM148887434.

Proteomic databases

PaxDbQ9BYB0.
PRIDEQ9BYB0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID85358.
KEGGhsa:85358.
UCSCuc003bnf.1. human.

Organism-specific databases

CTD85358.
GeneCardsGC22P051112.
HGNCHGNC:14294. SHANK3.
MIM606230. gene.
613950. phenotype.
neXtProtNX_Q9BYB0.
Orphanet106. Autism.
48652. Monosomy 22q13.
3140. Schizophrenia.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOVERGENHBG054027.
InParanoidQ9BYB0.
KOK15009.

Enzyme and pathway databases

Pathway_Interaction_DBret_pathway. Signaling events regulated by Ret tyrosine kinase.

Gene expression databases

CleanExHS_SHANK3.
GenevestigatorQ9BYB0.
GermOnlineENSG00000099882. Homo sapiens.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001478. PDZ.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamPF12796. Ank_2. 2 hits.
PF00595. PDZ. 1 hit.
PF00536. SAM_1. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 5 hits.
SM00228. PDZ. 1 hit.
SM00454. SAM. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF48403. ANK. 1 hit.
SSF50156. PDZ. 1 hit.
SSF47769. SAM_homology. 1 hit.
SSF50044. SH3. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
PS50106. PDZ. 1 hit.
PS50105. SAM_DOMAIN. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSHANK3. human.
GenomeRNAi85358.
NextBio75867.
SOURCESearch...

Entry information

Entry nameSHAN3_HUMAN
AccessionPrimary (citable) accession number: Q9BYB0
Secondary accession number(s): Q8TET3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: June 12, 2007
Last modified: May 1, 2013
This is version 104 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.

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MIM cross-references

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

SIMILARITY comments

Index of protein domains and families