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Q9BYB0

- SHAN3_HUMAN

UniProt

Q9BYB0 - SHAN3_HUMAN

Protein

SH3 and multiple ankyrin repeat domains protein 3

Gene

SHANK3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 3 (19 Feb 2014)
      Previous versions | rss
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    Functioni

    Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. 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. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation.1 Publication

    GO - Molecular functioni

    1. GKAP/Homer scaffold activity Source: BHF-UCL
    2. identical protein binding Source: BHF-UCL
    3. ionotropic glutamate receptor binding Source: BHF-UCL
    4. protein binding Source: IntAct
    5. protein C-terminus binding Source: BHF-UCL
    6. scaffold protein binding Source: BHF-UCL
    7. SH3 domain binding Source: BHF-UCL
    8. zinc ion binding Source: BHF-UCL

    GO - Biological processi

    1. adult behavior Source: BHF-UCL
    2. alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Source: BHF-UCL
    3. brain morphogenesis Source: BHF-UCL
    4. dendritic spine morphogenesis Source: BHF-UCL
    5. guanylate kinase-associated protein clustering Source: BHF-UCL
    6. learning Source: BHF-UCL
    7. MAPK cascade Source: BHF-UCL
    8. memory Source: BHF-UCL
    9. negative regulation of actin filament bundle assembly Source: BHF-UCL
    10. negative regulation of cell volume Source: BHF-UCL
    11. N-methyl-D-aspartate receptor clustering Source: BHF-UCL
    12. positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: BHF-UCL
    13. positive regulation of dendritic spine development Source: BHF-UCL
    14. positive regulation of excitatory postsynaptic membrane potential Source: BHF-UCL
    15. positive regulation of glutamate receptor signaling pathway Source: BHF-UCL
    16. positive regulation of long-term neuronal synaptic plasticity Source: BHF-UCL
    17. positive regulation of synapse structural plasticity Source: BHF-UCL
    18. positive regulation of synaptic transmission, glutamatergic Source: BHF-UCL
    19. postsynaptic density assembly Source: BHF-UCL
    20. regulation of dendritic spine morphogenesis Source: BHF-UCL
    21. regulation of long term synaptic depression Source: BHF-UCL
    22. regulation of long-term synaptic potentiation Source: BHF-UCL
    23. social behavior Source: BHF-UCL
    24. striatal medium spiny neuron differentiation Source: BHF-UCL
    25. synapse assembly Source: BHF-UCL
    26. vocalization behavior Source: BHF-UCL
    27. vocal learning Source: BHF-UCL

    Keywords - Ligandi

    Actin-binding

    Enzyme and pathway databases

    SignaLinkiQ9BYB0.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:SHANK3
    Synonyms:KIAA1650, PROSAP2, PSAP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:14294. SHANK3.

    Subcellular locationi

    Cytoplasm 1 Publication. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density 1 Publication. Cell projectiondendritic spine By similarity
    Note: In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD).By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. ciliary membrane Source: BHF-UCL
    3. cytoplasm Source: UniProtKB-SubCell
    4. dendritic spine Source: UniProtKB-SubCell
    5. neuronal postsynaptic density Source: BHF-UCL
    6. neuron projection Source: BHF-UCL
    7. neuron spine Source: BHF-UCL
    8. plasma membrane Source: BHF-UCL
    9. postsynaptic membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    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 neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. 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). Gene duplication is associated with hyperkinetic neuropsychiatric disorders (PubMed:24153177) such as hyperactivity, auditory overstimulation, epilepsy and bipolar affective disorders, among others.1 Publication
    Phelan-McDermid syndrome (PHEDE) [MIM:606232]: A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411P → A in PHEDE. 1 Publication
    VAR_070259
    Natural varianti1452 – 14521A → S in PHEDE. 1 Publication
    VAR_070270
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti536 – 5361R → W in SCZD15. 1 Publication
    VAR_065800

    Keywords - Diseasei

    Disease mutation, Schizophrenia

    Organism-specific databases

    MIMi606232. phenotype.
    613950. phenotype.
    Orphaneti106. Autism.
    48652. Monosomy 22q13.
    3140. Schizophrenia.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 17311731SH3 and multiple ankyrin repeat domains protein 3PRO_0000174675Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei122 – 1221PhosphotyrosineBy similarity
    Modified residuei483 – 4831PhosphoserineBy similarity
    Modified residuei556 – 5561PhosphotyrosineBy similarity
    Modified residuei1158 – 11581Phosphoserine1 Publication
    Modified residuei1162 – 11621Phosphoserine1 Publication
    Modified residuei1234 – 12341Phosphothreonine1 Publication
    Modified residuei1253 – 12531Phosphoserine1 Publication
    Modified residuei1634 – 16341PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9BYB0.
    PRIDEiQ9BYB0.

    PTM databases

    PhosphoSiteiQ9BYB0.

    Expressioni

    Tissue specificityi

    Expressed in the cerebral cortex and the cerebellum.

    Gene expression databases

    CleanExiHS_SHANK3.
    GenevestigatoriQ9BYB0.

    Organism-specific databases

    HPAiHPA003446.

    Interactioni

    Subunit structurei

    May homomultimerize via its SAM domain. Interacts with BAIAP2, DBNL and SLC17A7/VGLUT1. Interacts with DLGAP1/GKAP, GRM1/MGLUR1, GRM5/MGLUR5 and LZTS3 C-termini via its PDZ domain. Interacts with ABI1, HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts (via PDZ domain) with the GRIA1 subunit of the AMPA receptor (via PDZ-binding motif). Interacts with WASF1 and CYFIP2; the interactions mediate the association of SHANK3 with the WAVE1 complex. Interacts with ARPC2; the interaction probably mediates the association of SHANK3 with the Arp2/3 complex. Interacts (via ANK repeats) with SHARPIN and SPTAN1. Interacts (via PDZ domain) with ARHGAP44 (probably via PDZ-binding motif); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GRB2P629932EBI-1752330,EBI-401755
    NCK1P163334EBI-1752330,EBI-389883
    PLCG1P191742EBI-1752330,EBI-79387

    Protein-protein interaction databases

    DIPiDIP-52267N.
    IntActiQ9BYB0. 28 interactions.
    MINTiMINT-4134553.
    STRINGi9606.ENSP00000262795.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYB0.
    SMRiQ9BYB0. Positions 563-668, 1665-1728.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati148 – 17831ANK 1Add
    BLAST
    Repeati182 – 21130ANK 2Add
    BLAST
    Repeati215 – 24531ANK 3Add
    BLAST
    Repeati249 – 27830ANK 4Add
    BLAST
    Repeati282 – 31130ANK 5Add
    BLAST
    Repeati315 – 34531ANK 6Add
    BLAST
    Domaini471 – 53060SH3PROSITE-ProRule annotationAdd
    BLAST
    Domaini571 – 66595PDZPROSITE-ProRule annotationAdd
    BLAST
    Domaini1668 – 173164SAMPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 7575Intramolecular interaction with the ANK repeatsBy similarityAdd
    BLAST
    Regioni678 – 6858Required for interaction with ABI1By similarity

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1494 – 151421Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1410 – 14167SH3-bindingSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi678 – 6814Poly-Pro
    Compositional biasi719 – 7224Poly-Ala
    Compositional biasi814 – 930117Pro-richAdd
    BLAST
    Compositional biasi1232 – 1349118Pro-richAdd
    BLAST

    Domaini

    In isoform 1, the N-terminal region preceding the ANK repeats interacts with the 6 ANK repeats in an intramolecular manner, thereby restricting access to ligands, such as SHARPIN and SPTAN1.By similarity

    Sequence similaritiesi

    Contains 6 ANK repeats.PROSITE-ProRule annotation
    Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation
    Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Coiled coil, Repeat, SH3 domain, SH3-binding

    Phylogenomic databases

    eggNOGiCOG0666.
    HOVERGENiHBG054027.
    InParanoidiQ9BYB0.
    KOiK15009.

    Family and domain databases

    Gene3Di1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    2.30.42.10. 1 hit.
    InterProiIPR002110. 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]
    PfamiPF12796. Ank_2. 2 hits.
    PF00595. PDZ. 1 hit.
    PF00536. SAM_1. 1 hit.
    PF07653. SH3_2. 1 hit.
    [Graphical view]
    SMARTiSM00248. ANK. 5 hits.
    SM00228. PDZ. 1 hit.
    SM00454. SAM. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    SSF50044. SSF50044. 1 hit.
    SSF50156. SSF50156. 1 hit.
    PROSITEiPS50297. 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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative promoter usage. Align

    Note: Additional isoforms seem to exist. These isoforms may be the product of multiple intragenic promoter and/or alternative splicing.

    Isoform 1 (identifier: Q9BYB0-1) [UniParc]FASTAAdd to Basket

    Also known as: A

    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.

    « Hide

    MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA     50
    LNYGLFQPPS RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN 100
    LIDDKQFAKL HTKANLKKFM DYVQLHSTDK VARLLDKGLD PNFHDPDSGE 150
    CPLSLAAQLD NATDLLKVLK NGGAHLDFRT RDGLTAVHCA TRQRNAAALT 200
    TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH AQLGITDENG 250
    WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 300
    VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP 350
    SYAKRRRLAG PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL 400
    LLQRLQEEKD RDRDADQESN ISGPLAGRAG QSKISPSGPG GPGPAPGPGP 450
    APPAPPAPPP RGPKRKLYSA VPGRKFIAVK AHSPQGEGEI PLHRGEAVKV 500
    LSIGEGGFWE GTVKGRTGWF PADCVEEVQM RQHDTRPETR EDRTKRLFRH 550
    YTVGSYDSLT SHSDYVIDDK VAVLQKRDHE GFGFVLRGAK AETPIEEFTP 600
    TPAFPALQYL ESVDVEGVAW RAGLRTGDFL IEVNGVNVVK VGHKQVVALI 650
    RQGGNRLVMK VVSVTRKPEE DGARRRAPPP PKRAPSTTLT LRSKSMTAEL 700
    EELASIRRRK GEKLDEMLAA AAEPTLRPDI ADADSRAATV KQRPTSRRIT 750
    PAEISSLFER QGLPGPEKLP GSLRKGIPRT KSVGEDEKLA SLLEGRFPRS 800
    TSMQDPVREG RGIPPPPQTA PPPPPAPYYF DSGPPPAFSP PPPPGRAYDT 850
    VRSSFKPGLE ARLGAGAAGL YEPGAALGPL PYPERQKRAR SMIILQDSAP 900
    ESGDAPRPPP AATPPERPKR RPRPPGPDSP YANLGAFSAS LFAPSKPQRR 950
    KSPLVKQLQV EDAQERAALA VGSPGPGGGS FAREPSPTHR GPRPGGLDYG 1000
    AGDGPGLAFG GPGPAKDRRL EERRRSTVFL SVGAIEGSAP GADLPSLQPS 1050
    RSIDERLLGT GPTAGRDLLL PSPVSALKPL VSGPSLGPSG STFIHPLTGK 1100
    PLDPSSPLAL ALAARERALA SQAPSRSPTP VHSPDADRPG PLFVDVQARD 1150
    PERGSLASPA FSPRSPAWIP VPARREAEKV PREERKSPED KKSMILSVLD 1200
    TSLQRPAGLI VVHATSNGQE PSRLGGAEEE RPGTPELAPA PMQSAAVAEP 1250
    LPSPRAQPPG GTPADAGPGQ GSSEEEPELV FAVNLPPAQL SSSDEETREE 1300
    LARIGLVPPP EEFANGVLLA TPLAGPGPSP TTVPSPASGK PSSEPPPAPE 1350
    SAADSGVEEA DTRSSSDPHL ETTSTISTVS SMSTLSSESG ELTDTHTSFA 1400
    DGHTFLLEKP PVPPKPKLKS PLGKGPVTFR DPLLKQSSDS ELMAQQHHAA 1450
    SAGLASAAGP ARPRYLFQRR SKLWGDPVES RGLPGPEDDK PTVISELSSR 1500
    LQQLNKDTRS LGEEPVGGLG SLLDPAKKSP IAAARLFSSL GELSSISAQR 1550
    SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP 1600
    FGLTPPTILK SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG 1650
    PGAPGPRRPF QQKPLQLWSK FDVGDWLESI HLGEHRDRFE DHEIEGAHLP 1700
    ALTKDDFVEL GVTRVGHRMN IERALRQLDG S 1731

    Note: Primarily expressed in neurons.

    Length:1,731
    Mass (Da):184,667
    Last modified:February 19, 2014 - v3
    Checksum:i781936CE60988D08
    GO
    Isoform 2 (identifier: Q9BYB0-3) [UniParc]FASTAAdd to Basket

    Also known as: B

    The sequence of this isoform differs from the canonical sequence as follows:
         1-119: Missing.

    Note: Produced by alternative promoter usage.

    Show »
    Length:1,612
    Mass (Da):171,151
    Checksum:iB5D0BACA602434C6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation. 1 Publication
    VAR_032804
    Natural varianti141 – 1411P → A in PHEDE. 1 Publication
    VAR_070259
    Natural varianti198 – 1981A → G.1 Publication
    VAR_032805
    Natural varianti224 – 2241A → T.1 Publication
    VAR_032806
    Natural varianti245 – 2451I → T.1 Publication
    Corresponds to variant rs9616915 [ dbSNP | Ensembl ].
    VAR_032807
    Natural varianti300 – 3001R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation. 1 Publication
    VAR_032808
    Natural varianti321 – 3211Q → R Found in a patient with neuropsychiatric disorders; unknown pathological significance; may disrupt transsynaptic signaling, spine maturation and axonal growth cone motility. 1 Publication
    VAR_070260
    Natural varianti341 – 3411S → L Found in patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070261
    Natural varianti493 – 4931H → Q.1 Publication
    VAR_065799
    Natural varianti536 – 5361R → W in SCZD15. 1 Publication
    VAR_065800
    Natural varianti720 – 7201A → T.1 Publication
    VAR_065801
    Natural varianti952 – 9521S → T.1 Publication
    VAR_065802
    Natural varianti963 – 9631A → G.1 Publication
    VAR_070262
    Natural varianti970 – 9701A → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070263
    Natural varianti1010 – 10101G → V.1 Publication
    VAR_065803
    Natural varianti1011 – 10111G → V.1 Publication
    VAR_070264
    Natural varianti1134 – 11341P → H.
    VAR_065804
    Natural varianti1173 – 11731A → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070265
    Natural varianti1231 – 12311R → H.1 Publication
    VAR_070266
    Natural varianti1263 – 12631P → L Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070267
    Natural varianti1298 – 12981R → K.1 Publication
    VAR_065805
    Natural varianti1333 – 13331V → G.1 Publication
    VAR_065806
    Natural varianti1406 – 14061L → V Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070268
    Natural varianti1443 – 14431M → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070269
    Natural varianti1452 – 14521A → S in PHEDE. 1 Publication
    VAR_070270
    Natural varianti1546 – 15461I → V.1 Publication
    VAR_065807
    Natural varianti1557 – 15571G → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication
    VAR_070271
    Natural varianti1566 – 15661S → G.1 Publication
    VAR_070272
    Natural varianti1645 – 16451P → T.1 Publication
    VAR_065808
    Natural varianti1654 – 16541P → T Found in patients with neuropsychiatric disorders; unknown pathological significance. 2 Publications
    VAR_070273

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 119119Missing in isoform 2. CuratedVSP_053605Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000050 Genomic DNA. No translation available.
    AC000036 Genomic DNA. No translation available.
    AB051437 mRNA. Translation: BAB33320.1.
    AK074038 mRNA. Translation: BAB84864.1.
    AB569469 mRNA. Translation: BAJ09793.1.
    RefSeqiNP_277052.1. NM_033517.1. [Q9BYB0-1]
    UniGeneiHs.149035.

    Genome annotation databases

    GeneIDi85358.
    KEGGihsa:85358.
    UCSCiuc003bnf.2. human. [Q9BYB0-1]

    Polymorphism databases

    DMDMi148887434.

    Keywords - Coding sequence diversityi

    Alternative promoter usage, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC000050 Genomic DNA. No translation available.
    AC000036 Genomic DNA. No translation available.
    AB051437 mRNA. Translation: BAB33320.1 .
    AK074038 mRNA. Translation: BAB84864.1 .
    AB569469 mRNA. Translation: BAJ09793.1 .
    RefSeqi NP_277052.1. NM_033517.1. [Q9BYB0-1 ]
    UniGenei Hs.149035.

    3D structure databases

    ProteinModelPortali Q9BYB0.
    SMRi Q9BYB0. Positions 563-668, 1665-1728.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-52267N.
    IntActi Q9BYB0. 28 interactions.
    MINTi MINT-4134553.
    STRINGi 9606.ENSP00000262795.

    PTM databases

    PhosphoSitei Q9BYB0.

    Polymorphism databases

    DMDMi 148887434.

    Proteomic databases

    PaxDbi Q9BYB0.
    PRIDEi Q9BYB0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 85358.
    KEGGi hsa:85358.
    UCSCi uc003bnf.2. human. [Q9BYB0-1 ]

    Organism-specific databases

    CTDi 85358.
    GeneCardsi GC22P051112.
    GeneReviewsi SHANK3.
    HGNCi HGNC:14294. SHANK3.
    HPAi HPA003446.
    MIMi 606230. gene.
    606232. phenotype.
    613950. phenotype.
    neXtProti NX_Q9BYB0.
    Orphaneti 106. Autism.
    48652. Monosomy 22q13.
    3140. Schizophrenia.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOVERGENi HBG054027.
    InParanoidi Q9BYB0.
    KOi K15009.

    Enzyme and pathway databases

    SignaLinki Q9BYB0.

    Miscellaneous databases

    ChiTaRSi SHANK3. human.
    GeneWikii SHANK3.
    GenomeRNAii 85358.
    NextBioi 75867.
    PROi Q9BYB0.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_SHANK3.
    Genevestigatori Q9BYB0.

    Family and domain databases

    Gene3Di 1.10.150.50. 1 hit.
    1.25.40.20. 1 hit.
    2.30.42.10. 1 hit.
    InterProi IPR002110. 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 ]
    Pfami PF12796. Ank_2. 2 hits.
    PF00595. PDZ. 1 hit.
    PF00536. SAM_1. 1 hit.
    PF07653. SH3_2. 1 hit.
    [Graphical view ]
    SMARTi SM00248. ANK. 5 hits.
    SM00228. PDZ. 1 hit.
    SM00454. SAM. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47769. SSF47769. 1 hit.
    SSF48403. SSF48403. 1 hit.
    SSF50044. SSF50044. 1 hit.
    SSF50156. SSF50156. 1 hit.
    PROSITEi PS50297. 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 ]
    ProtoNeti Search...

    Publicationsi

    1. "Novel veriants of human SHANK3 gene."
      Uchino S., Waga C., Kohsaka S.
      Submitted (JUN-2010) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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.
      , 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].
    3. "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 935-1731 (ISOFORMS 1/2).
    4. "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 962-1731 (ISOFORMS 1/2).
      Tissue: Spleen.
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1158 AND SER-1162, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    6. "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-1234 AND SER-1253, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. "Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders."
      Zhu L., Wang X., Li X.L., Towers A., Cao X., Wang P., Bowman R., Yang H., Goldstein J., Li Y.J., Jiang Y.H.
      Hum. Mol. Genet. 23:1563-1578(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2), INVOLVEMENT IN NEUROPSYCHIATRIC DISORDERS.
    8. "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.
    9. "The Shank family of scaffold proteins."
      Sheng M., Kim E.
      J. Cell Sci. 113:1851-1856(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    10. "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.
    11. "Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion."
      Vucurovic K., Landais E., Delahaigue C., Eutrope J., Schneider A., Leroy C., Kabbaj H., Motte J., Gaillard D., Rolland A.C., Doco-Fenzy M.
      Eur. J. Med. Genet. 55:625-629(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN NEUROPSYCHIATRIC DISORDERS.
    12. "Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency."
      Soorya L., Kolevzon A., Zweifach J., Lim T., Dobry Y., Schwartz L., Frank Y., Wang A.T., Cai G., Parkhomenko E., Halpern D., Grodberg D., Angarita B., Willner J.P., Yang A., Canitano R., Chaplin W., Betancur C., Buxbaum J.D.
      Mol. Autism 4:18-18(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PHEDE.
    13. "SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties."
      Han K., Holder J.L. Jr., Schaaf C.P., Lu H., Chen H., Kang H., Tang J., Wu Z., Hao S., Cheung S.W., Yu P., Sun H., Breman A.M., Patel A., Lu H.C., Zoghbi H.Y.
      Nature 503:72-77(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN NEUROPSYCHIATRIC DISORDERS.
    14. Cited for: INVOLVEMENT IN PHEDE, FUNCTION IN SYNAPSE FORMATION, SUBCELLULAR LOCATION.
    15. Cited for: VARIANTS ARG-321; LEU-341; SER-970; THR-1173; LEU-1263; VAL-1406; THR-1443; SER-1557 AND THR-1654, INVOLVEMENT IN NEUROPSYCHIATRIC DISORDERS.
    16. Cited for: VARIANTS CYS-12; GLY-198; THR-224; CYS-300; GLY-963; VAL-1011; HIS-1231; GLY-1566 AND THR-1654, INVOLVEMENT IN NEUROPSYCHIATRIC DISORDERS, CHARACTERIZATION OF VARIANTS CYS-12 AND CYS-300.
    17. Cited for: VARIANT SCZD15 TRP-536, VARIANTS THR-245; GLN-493; THR-720; THR-952; VAL-1010; LYS-1298; GLY-1333; VAL-1546 AND THR-1645.
    18. Cited for: VARIANTS PHEDE ALA-141 AND SER-1452.

    Entry informationi

    Entry nameiSHAN3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYB0
    Secondary accession number(s): D7UT47, Q8TET3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 26, 2002
    Last sequence update: February 19, 2014
    Last modified: October 1, 2014
    This is version 119 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3