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Protein

SH3 and multiple ankyrin repeat domains protein 3

Gene

SHANK3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • adult behavior Source: BHF-UCL
  • AMPA glutamate receptor clustering Source: BHF-UCL
  • brain morphogenesis Source: BHF-UCL
  • dendritic spine morphogenesis Source: BHF-UCL
  • guanylate kinase-associated protein clustering Source: BHF-UCL
  • learning Source: BHF-UCL
  • MAPK cascade Source: BHF-UCL
  • memory Source: BHF-UCL
  • negative regulation of actin filament bundle assembly Source: BHF-UCL
  • negative regulation of cell volume Source: BHF-UCL
  • NMDA glutamate receptor clustering Source: BHF-UCL
  • positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: BHF-UCL
  • positive regulation of dendritic spine development Source: BHF-UCL
  • positive regulation of excitatory postsynaptic potential Source: BHF-UCL
  • positive regulation of glutamate receptor signaling pathway Source: BHF-UCL
  • positive regulation of long-term neuronal synaptic plasticity Source: BHF-UCL
  • positive regulation of long-term synaptic potentiation Source: BHF-UCL
  • positive regulation of synapse structural plasticity Source: BHF-UCL
  • positive regulation of synaptic transmission, glutamatergic Source: BHF-UCL
  • postsynaptic density assembly Source: BHF-UCL
  • regulation of dendritic spine morphogenesis Source: BHF-UCL
  • regulation of long term synaptic depression Source: BHF-UCL
  • regulation of long-term synaptic potentiation Source: BHF-UCL
  • social behavior Source: BHF-UCL
  • striatal medium spiny neuron differentiation Source: BHF-UCL
  • synapse assembly Source: BHF-UCL
  • vocalization behavior Source: BHF-UCL
  • vocal learning Source: BHF-UCL
Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099882-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
R-HSA-8853659. RET signaling.
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
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:14294. SHANK3.

Subcellular locationi

GO - Cellular componenti

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.

Phelan-McDermid syndrome (PHMDS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606232
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070259141P → A in PHMDS. 1 Publication1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Schizophrenia 15 (SCZD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065800536R → W in SCZD15. 1 Publication1

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Schizophrenia

Organism-specific databases

DisGeNETi85358.
MalaCardsiSHANK3.
MIMi606232. phenotype.
613950. phenotype.
OpenTargetsiENSG00000283243.
Orphaneti106. Autism.
48652. Monosomy 22q13.
3140. Schizophrenia.

Polymorphism and mutation databases

BioMutaiSHANK3.
DMDMi148887434.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001746751 – 1731SH3 and multiple ankyrin repeat domains protein 3Add BLAST1731

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei122PhosphotyrosineBy similarity1
Modified residuei373PhosphoserineBy similarity1
Modified residuei375PhosphoserineBy similarity1
Modified residuei388PhosphoserineBy similarity1
Modified residuei395PhosphoserineBy similarity1
Modified residuei483PhosphoserineBy similarity1
Modified residuei556PhosphotyrosineBy similarity1
Modified residuei695PhosphoserineBy similarity1
Modified residuei782PhosphoserineBy similarity1
Modified residuei791PhosphoserineBy similarity1
Modified residuei802PhosphoserineBy similarity1
Modified residuei891PhosphoserineBy similarity1
Modified residuei898PhosphoserineBy similarity1
Modified residuei913PhosphothreonineCombined sources1
Modified residuei931PhosphotyrosineBy similarity1
Modified residuei966Asymmetric dimethylarginineBy similarity1
Modified residuei1129PhosphothreonineBy similarity1
Modified residuei1133PhosphoserineBy similarity1
Modified residuei1158PhosphoserineCombined sources1
Modified residuei1162PhosphoserineCombined sources1
Modified residuei1165PhosphoserineBy similarity1
Modified residuei1234PhosphothreonineCombined sources1
Modified residuei1253PhosphoserineCombined sources1
Modified residuei1420PhosphoserineBy similarity1
Modified residuei1510PhosphoserineBy similarity1
Modified residuei1521PhosphoserineBy similarity1
Modified residuei1529PhosphoserineBy similarity1
Modified residuei1539PhosphoserineBy similarity1
Modified residuei1634PhosphoserineBy similarity1
Modified residuei1636PhosphoserineCombined sources1
Modified residuei1638PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ9BYB0.
PeptideAtlasiQ9BYB0.
PRIDEiQ9BYB0.

PTM databases

iPTMnetiQ9BYB0.
PhosphoSitePlusiQ9BYB0.

Expressioni

Tissue specificityi

Expressed in the cerebral cortex and the cerebellum.

Gene expression databases

CleanExiHS_SHANK3.

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124487. 16 interactors.
DIPiDIP-52267N.
IntActiQ9BYB0. 28 interactors.
MINTiMINT-4134553.
STRINGi9606.ENSP00000442518.

Structurei

3D structure databases

ProteinModelPortaliQ9BYB0.
SMRiQ9BYB0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati148 – 178ANK 1Add BLAST31
Repeati182 – 211ANK 2Add BLAST30
Repeati215 – 245ANK 3Add BLAST31
Repeati249 – 278ANK 4Add BLAST30
Repeati282 – 311ANK 5Add BLAST30
Repeati315 – 345ANK 6Add BLAST31
Domaini471 – 530SH3PROSITE-ProRule annotationAdd BLAST60
Domaini571 – 665PDZPROSITE-ProRule annotationAdd BLAST95
Domaini1668 – 1731SAMPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 75Intramolecular interaction with the ANK repeatsBy similarityAdd BLAST75
Regioni678 – 685Required for interaction with ABI1By similarity8

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1494 – 1514Sequence analysisAdd BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1410 – 1416SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi678 – 681Poly-Pro4
Compositional biasi719 – 722Poly-Ala4
Compositional biasi814 – 930Pro-richAdd BLAST117
Compositional biasi1232 – 1349Pro-richAdd BLAST118

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

eggNOGiKOG0504. Eukaryota.
KOG4375. Eukaryota.
COG0666. LUCA.
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.
IPR032425. FERM_f0.
IPR001478. PDZ.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF16511. FERM_f0. 1 hit.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03280412R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation. 1 Publication1
Natural variantiVAR_070259141P → A in PHMDS. 1 Publication1
Natural variantiVAR_032805198A → G.1 Publication1
Natural variantiVAR_032806224A → T.1 Publication1
Natural variantiVAR_032807245I → T.1 PublicationCorresponds to variant rs9616915dbSNPEnsembl.1
Natural variantiVAR_032808300R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation. 1 Publication1
Natural variantiVAR_070260321Q → R Found in a patient with neuropsychiatric disorders; unknown pathological significance; may disrupt transsynaptic signaling, spine maturation and axonal growth cone motility. 1 Publication1
Natural variantiVAR_070261341S → L Found in patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_065799493H → Q.1 Publication1
Natural variantiVAR_065800536R → W in SCZD15. 1 Publication1
Natural variantiVAR_065801720A → T.1 Publication1
Natural variantiVAR_065802952S → T.1 Publication1
Natural variantiVAR_070262963A → G.1 Publication1
Natural variantiVAR_070263970A → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0658031010G → V.1 Publication1
Natural variantiVAR_0702641011G → V.1 Publication1
Natural variantiVAR_0658041134P → H.1
Natural variantiVAR_0702651173A → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702661231R → H.1 Publication1
Natural variantiVAR_0702671263P → L Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0658051298R → K.1 Publication1
Natural variantiVAR_0658061333V → G.1 Publication1
Natural variantiVAR_0702681406L → V Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702691443M → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Natural variantiVAR_0658071546I → V.1 Publication1
Natural variantiVAR_0702711557G → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702721566S → G.1 Publication1
Natural variantiVAR_0658081645P → T.1 Publication1
Natural variantiVAR_0702731654P → T Found in patients with neuropsychiatric disorders; unknown pathological significance. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0536051 – 119Missing in isoform 2. CuratedAdd BLAST119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Alternative promoter usage, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9BYB0.
SMRiQ9BYB0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124487. 16 interactors.
DIPiDIP-52267N.
IntActiQ9BYB0. 28 interactors.
MINTiMINT-4134553.
STRINGi9606.ENSP00000442518.

PTM databases

iPTMnetiQ9BYB0.
PhosphoSitePlusiQ9BYB0.

Polymorphism and mutation databases

BioMutaiSHANK3.
DMDMi148887434.

Proteomic databases

PaxDbiQ9BYB0.
PeptideAtlasiQ9BYB0.
PRIDEiQ9BYB0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi85358.
KEGGihsa:85358.

Organism-specific databases

CTDi85358.
DisGeNETi85358.
GeneCardsiSHANK3.
GeneReviewsiSHANK3.
HGNCiHGNC:14294. SHANK3.
MalaCardsiSHANK3.
MIMi606230. gene.
606232. phenotype.
613950. phenotype.
neXtProtiNX_Q9BYB0.
OpenTargetsiENSG00000283243.
Orphaneti106. Autism.
48652. Monosomy 22q13.
3140. Schizophrenia.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
KOG4375. Eukaryota.
COG0666. LUCA.
HOVERGENiHBG054027.
InParanoidiQ9BYB0.
KOiK15009.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099882-MONOMER.
ReactomeiR-HSA-6794361. Interactions of neurexins and neuroligins at synapses.
R-HSA-8853659. RET signaling.
SignaLinkiQ9BYB0.

Miscellaneous databases

ChiTaRSiSHANK3. human.
GeneWikiiSHANK3.
GenomeRNAii85358.
PROiQ9BYB0.
SOURCEiSearch...

Gene expression databases

CleanExiHS_SHANK3.

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.
IPR032425. FERM_f0.
IPR001478. PDZ.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF16511. FERM_f0. 1 hit.
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]
ProtoNetiSearch...

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: November 2, 2016
This is version 136 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.