Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

SH3 and multiple ankyrin repeat domains protein 3

Gene

SHANK3

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

Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
R-HSA-8853659 RET signaling
SignaLinkiQ9BYB0

Protein family/group databases

TCDBi8.A.28.1.7 the ankyrin (ankyrin) family

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
MIMi606230 gene
neXtProtiNX_Q9BYB0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication
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 (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 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Schizophrenia

Organism-specific databases

DisGeNETi85358
GeneReviewsiSHANK3
MalaCardsiSHANK3
MIMi606232 phenotype
613950 phenotype
Orphaneti48652 Monosomy 22q13
106 NON RARE IN EUROPE: Autism

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
ProteomicsDBi79606

PTM databases

CarbonylDBiQ9BYB0
iPTMnetiQ9BYB0
PhosphoSitePlusiQ9BYB0

Expressioni

Tissue specificityi

Expressed in the cerebral cortex and the cerebellum.

Gene expression databases

CleanExiHS_SHANK3

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). Interacts with CAMK2A (PubMed:28130356).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124487, 16 interactors
CORUMiQ9BYB0
DIPiDIP-52267N
IntActiQ9BYB0, 29 interactors
MINTiQ9BYB0
STRINGi9606.ENSP00000442518

Structurei

Secondary structure

11731
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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

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

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR032425 FERM_f0
IPR001478 PDZ
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF16511 FERM_f0, 1 hit
PF00595 PDZ, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit

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.

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0U1RQS4A0A0U1RQS4_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
1,730Annotation score:
A0A0U1RR93A0A0U1RR93_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK3
1,724Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03280412R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 Publication1
Natural variantiVAR_070259141P → A in PHMDS. 1 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
Natural variantiVAR_032805198A → G1 Publication1
Natural variantiVAR_032806224A → T1 PublicationCorresponds to variant dbSNP:rs766856815Ensembl.1
Natural variantiVAR_032807245I → T1 PublicationCorresponds to variant dbSNP:rs9616915EnsemblClinVar.1
Natural variantiVAR_032808300R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 PublicationCorresponds to variant dbSNP:rs376862893Ensembl.1
Natural variantiVAR_070260321Q → R Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_070261341S → L Found in patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_065799493H → Q1 Publication1
Natural variantiVAR_065800536R → W in SCZD15. 1 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1
Natural variantiVAR_065801720A → T1 Publication1
Natural variantiVAR_065802952S → T1 Publication1
Natural variantiVAR_070262963A → G1 Publication1
Natural variantiVAR_070263970A → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs530255181EnsemblClinVar.1
Natural variantiVAR_0658031010G → V1 Publication1
Natural variantiVAR_0702641011G → V1 PublicationCorresponds to variant dbSNP:rs767058690Ensembl.1
Natural variantiVAR_0658041134P → H. Corresponds to variant dbSNP:rs769454362Ensembl.1
Natural variantiVAR_0702651173A → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139686326Ensembl.1
Natural variantiVAR_0702661231R → H1 PublicationCorresponds to variant dbSNP:rs750186589Ensembl.1
Natural variantiVAR_0702671263P → L Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757572910Ensembl.1
Natural variantiVAR_0658051298R → K1 PublicationCorresponds to variant dbSNP:rs201483867EnsemblClinVar.1
Natural variantiVAR_0658061333V → G1 PublicationCorresponds to variant dbSNP:rs200087210Ensembl.1
Natural variantiVAR_0702681406L → V Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201973139EnsemblClinVar.1
Natural variantiVAR_0702691443M → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773395828Ensembl.1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Natural variantiVAR_0658071546I → V1 Publication1
Natural variantiVAR_0702711557G → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702721566S → G1 Publication1
Natural variantiVAR_0658081645P → T1 Publication1
Natural variantiVAR_0702731654P → T Found in patients with neuropsychiatric disorders; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs749130556EnsemblClinVar.1

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

EnsembliENST00000635818; ENSP00000490818; ENSG00000283243 [Q9BYB0-1]
ENST00000645837; ENSP00000495774; ENSG00000283243 [Q9BYB0-1]
GeneIDi85358
KEGGihsa:85358

Keywords - Coding sequence diversityi

Alternative promoter usage, Chromosomal rearrangement, Polymorphism

Similar proteinsi

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CPKNMR-A471-530[»]
ProteinModelPortaliQ9BYB0
SMRiQ9BYB0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124487, 16 interactors
CORUMiQ9BYB0
DIPiDIP-52267N
IntActiQ9BYB0, 29 interactors
MINTiQ9BYB0
STRINGi9606.ENSP00000442518

Protein family/group databases

TCDBi8.A.28.1.7 the ankyrin (ankyrin) family

PTM databases

CarbonylDBiQ9BYB0
iPTMnetiQ9BYB0
PhosphoSitePlusiQ9BYB0

Polymorphism and mutation databases

BioMutaiSHANK3
DMDMi148887434

Proteomic databases

PaxDbiQ9BYB0
PeptideAtlasiQ9BYB0
PRIDEiQ9BYB0
ProteomicsDBi79606

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000635818; ENSP00000490818; ENSG00000283243 [Q9BYB0-1]
ENST00000645837; ENSP00000495774; ENSG00000283243 [Q9BYB0-1]
GeneIDi85358
KEGGihsa:85358

Organism-specific databases

CTDi85358
DisGeNETi85358
GeneCardsiSHANK3
GeneReviewsiSHANK3
HGNCiHGNC:14294 SHANK3
HPAiHPA003446
MalaCardsiSHANK3
MIMi606230 gene
606232 phenotype
613950 phenotype
neXtProtiNX_Q9BYB0
Orphaneti48652 Monosomy 22q13
106 NON RARE IN EUROPE: Autism
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA
HOVERGENiHBG054027
InParanoidiQ9BYB0
KOiK15009

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
R-HSA-8853659 RET signaling
SignaLinkiQ9BYB0

Miscellaneous databases

ChiTaRSiSHANK3 human
GeneWikiiSHANK3
GenomeRNAii85358
PROiPR:Q9BYB0
SOURCEiSearch...

Gene expression databases

CleanExiHS_SHANK3

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR032425 FERM_f0
IPR001478 PDZ
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF16511 FERM_f0, 1 hit
PF00595 PDZ, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSHAN3_HUMAN
AccessioniPrimary (citable) accession number: Q9BYB0
Secondary accession number(s): D7UT47, Q8TET3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: February 19, 2014
Last modified: November 7, 2018
This is version 150 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again