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Q9BYB0

- SHAN3_HUMAN

UniProt

Q9BYB0 - SHAN3_HUMAN

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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

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 C-terminus binding Source: BHF-UCL
  5. scaffold protein binding Source: BHF-UCL
  6. SH3 domain binding Source: BHF-UCL
  7. 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
Complete GO annotation...

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-KW
  4. neuronal postsynaptic density Source: BHF-UCL
  5. neuron projection Source: BHF-UCL
  6. neuron spine Source: BHF-UCL
  7. plasma membrane Source: BHF-UCL
  8. postsynaptic membrane Source: UniProtKB-KW
Complete GO annotation...

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

        10         20         30         40         50
MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA
60 70 80 90 100
LNYGLFQPPS RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN
110 120 130 140 150
LIDDKQFAKL HTKANLKKFM DYVQLHSTDK VARLLDKGLD PNFHDPDSGE
160 170 180 190 200
CPLSLAAQLD NATDLLKVLK NGGAHLDFRT RDGLTAVHCA TRQRNAAALT
210 220 230 240 250
TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH AQLGITDENG
260 270 280 290 300
WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR
310 320 330 340 350
VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP
360 370 380 390 400
SYAKRRRLAG PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL
410 420 430 440 450
LLQRLQEEKD RDRDADQESN ISGPLAGRAG QSKISPSGPG GPGPAPGPGP
460 470 480 490 500
APPAPPAPPP RGPKRKLYSA VPGRKFIAVK AHSPQGEGEI PLHRGEAVKV
510 520 530 540 550
LSIGEGGFWE GTVKGRTGWF PADCVEEVQM RQHDTRPETR EDRTKRLFRH
560 570 580 590 600
YTVGSYDSLT SHSDYVIDDK VAVLQKRDHE GFGFVLRGAK AETPIEEFTP
610 620 630 640 650
TPAFPALQYL ESVDVEGVAW RAGLRTGDFL IEVNGVNVVK VGHKQVVALI
660 670 680 690 700
RQGGNRLVMK VVSVTRKPEE DGARRRAPPP PKRAPSTTLT LRSKSMTAEL
710 720 730 740 750
EELASIRRRK GEKLDEMLAA AAEPTLRPDI ADADSRAATV KQRPTSRRIT
760 770 780 790 800
PAEISSLFER QGLPGPEKLP GSLRKGIPRT KSVGEDEKLA SLLEGRFPRS
810 820 830 840 850
TSMQDPVREG RGIPPPPQTA PPPPPAPYYF DSGPPPAFSP PPPPGRAYDT
860 870 880 890 900
VRSSFKPGLE ARLGAGAAGL YEPGAALGPL PYPERQKRAR SMIILQDSAP
910 920 930 940 950
ESGDAPRPPP AATPPERPKR RPRPPGPDSP YANLGAFSAS LFAPSKPQRR
960 970 980 990 1000
KSPLVKQLQV EDAQERAALA VGSPGPGGGS FAREPSPTHR GPRPGGLDYG
1010 1020 1030 1040 1050
AGDGPGLAFG GPGPAKDRRL EERRRSTVFL SVGAIEGSAP GADLPSLQPS
1060 1070 1080 1090 1100
RSIDERLLGT GPTAGRDLLL PSPVSALKPL VSGPSLGPSG STFIHPLTGK
1110 1120 1130 1140 1150
PLDPSSPLAL ALAARERALA SQAPSRSPTP VHSPDADRPG PLFVDVQARD
1160 1170 1180 1190 1200
PERGSLASPA FSPRSPAWIP VPARREAEKV PREERKSPED KKSMILSVLD
1210 1220 1230 1240 1250
TSLQRPAGLI VVHATSNGQE PSRLGGAEEE RPGTPELAPA PMQSAAVAEP
1260 1270 1280 1290 1300
LPSPRAQPPG GTPADAGPGQ GSSEEEPELV FAVNLPPAQL SSSDEETREE
1310 1320 1330 1340 1350
LARIGLVPPP EEFANGVLLA TPLAGPGPSP TTVPSPASGK PSSEPPPAPE
1360 1370 1380 1390 1400
SAADSGVEEA DTRSSSDPHL ETTSTISTVS SMSTLSSESG ELTDTHTSFA
1410 1420 1430 1440 1450
DGHTFLLEKP PVPPKPKLKS PLGKGPVTFR DPLLKQSSDS ELMAQQHHAA
1460 1470 1480 1490 1500
SAGLASAAGP ARPRYLFQRR SKLWGDPVES RGLPGPEDDK PTVISELSSR
1510 1520 1530 1540 1550
LQQLNKDTRS LGEEPVGGLG SLLDPAKKSP IAAARLFSSL GELSSISAQR
1560 1570 1580 1590 1600
SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP
1610 1620 1630 1640 1650
FGLTPPTILK SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG
1660 1670 1680 1690 1700
PGAPGPRRPF QQKPLQLWSK FDVGDWLESI HLGEHRDRFE DHEIEGAHLP
1710 1720 1730
ALTKDDFVEL GVTRVGHRMN IERALRQLDG S

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

« Hide 'large scale' publications
  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 29, 2014
This is version 120 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