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UniProtKB - Q9Y566 (SHAN1_HUMAN)

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Protein

SH3 and multiple ankyrin repeat domains protein 1

Gene

SHANK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • adult behavior Source: BHF-UCL
  • associative learning Source: BHF-UCL
  • cytoskeletal anchoring at plasma membrane Source: UniProtKB
  • dendritic spine morphogenesis Source: BHF-UCL
  • determination of affect Source: BHF-UCL
  • habituation Source: Ensembl
  • long-term memory Source: BHF-UCL
  • negative regulation of actin filament bundle assembly Source: BHF-UCL
  • neuromuscular process controlling balance Source: BHF-UCL
  • olfactory behavior Source: Ensembl
  • positive regulation of dendritic spine development Source: BHF-UCL
  • positive regulation of excitatory postsynaptic potential Source: BHF-UCL
  • protein-containing complex assembly Source: BHF-UCL
  • protein localization to synapse Source: BHF-UCL
  • regulation of AMPA receptor activity Source: BHF-UCL
  • righting reflex Source: Ensembl
  • social behavior Source: BHF-UCL
  • synapse maturation Source: BHF-UCL
  • vocalization behavior Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 and multiple ankyrin repeat domains protein 1
Short name:
Shank1
Alternative name(s):
Somatostatin receptor-interacting protein
Short name:
SSTR-interacting protein
Short name:
SSTRIP
Gene namesi
Name:SHANK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000161681.15
HGNCiHGNC:15474 SHANK1
MIMi604999 gene
neXtProtiNX_Q9Y566

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, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi50944
OpenTargetsiENSG00000161681
PharmGKBiPA37965

Polymorphism and mutation databases

BioMutaiSHANK1
DMDMi229462779

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001746711 – 2161SH3 and multiple ankyrin repeat domains protein 1Add BLAST2161

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei186PhosphotyrosineBy similarity1
Modified residuei540PhosphoserineBy similarity1
Modified residuei544Omega-N-methylarginineBy similarity1
Modified residuei671PhosphoserineBy similarity1
Modified residuei791PhosphoserineBy similarity1
Modified residuei890PhosphoserineBy similarity1
Modified residuei950Omega-N-methylarginineBy similarity1
Modified residuei1051Omega-N-methylarginineBy similarity1
Modified residuei1090Omega-N-methylarginineBy similarity1
Modified residuei1101Omega-N-methylarginineBy similarity1
Modified residuei1253Asymmetric dimethylarginineBy similarity1
Modified residuei1287PhosphoserineBy similarity1
Modified residuei1423Omega-N-methylarginineBy similarity1
Modified residuei1436PhosphoserineBy similarity1
Modified residuei1895Omega-N-methylarginineBy similarity1
Modified residuei2016Omega-N-methylarginineBy similarity1
Modified residuei2036Omega-N-methylarginineBy similarity1
Modified residuei2074Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ9Y566
PeptideAtlasiQ9Y566
PRIDEiQ9Y566
ProteomicsDBi86293
86294 [Q9Y566-2]
86295 [Q9Y566-3]

PTM databases

iPTMnetiQ9Y566
PhosphoSitePlusiQ9Y566

Expressioni

Tissue specificityi

Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus. Isoform 2 seems to be expressed ubiquitously.

Gene expression databases

BgeeiENSG00000161681
CleanExiHS_SHANK1
ExpressionAtlasiQ9Y566 baseline and differential
GenevisibleiQ9Y566 HS

Organism-specific databases

HPAiHPA032129
HPA032130

Interactioni

Subunit structurei

May homomultimerize via its SAM domain (By similarity). Interacts with the C-terminus of SSTR2 via the PDZ domain. Interacts with IGSF9, SHARPIN, SPTAN1, HOMER1 and DLGAP1/GKAP isoforms 1 and 2 (By similarity). Part of a complex with DLG4/PSD-95 and DLGAP1/GKAP (By similarity). Interacts with BAIAP2. Interacts with HOMER1 and HOMER3 (By similarity).By similarity2 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi119171, 13 interactors
DIPiDIP-40834N
ELMiQ9Y566
IntActiQ9Y566, 6 interactors
MINTiQ9Y566
STRINGi9606.ENSP00000293441

Structurei

3D structure databases

ProteinModelPortaliQ9Y566
SMRiQ9Y566
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati212 – 245ANK 1Add BLAST34
Repeati246 – 278ANK 2Add BLAST33
Repeati279 – 312ANK 3Add BLAST34
Repeati313 – 345ANK 4Add BLAST33
Repeati346 – 378ANK 5Add BLAST33
Repeati379 – 395ANK 6Add BLAST17
Domaini554 – 613SH3PROSITE-ProRule annotationAdd BLAST60
Domaini663 – 757PDZPROSITE-ProRule annotationAdd BLAST95
Domaini2098 – 2161SAMPROSITE-ProRule annotationAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1002 – 1007Poly-His6
Compositional biasi1014 – 1019Poly-His6
Compositional biasi1189 – 1195Poly-Gly7
Compositional biasi1709 – 1717Poly-Gly9
Compositional biasi1844 – 1854Poly-ProAdd BLAST11
Compositional biasi1896 – 1902Poly-Gly7
Compositional biasi1970 – 1979Poly-Ser10

Sequence similaritiesi

Belongs to the SHANK family.Curated

Keywords - Domaini

ANK repeat, Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00510000046474
HOGENOMiHOG000293276
HOVERGENiHBG079186
InParanoidiQ9Y566
KOiK15009
PhylomeDBiQ9Y566
TreeFamiTF324593

Family and domain databases

CDDicd00204 ANK, 2 hits
cd11982 SH3_Shank1, 1 hit
Gene3Di1.25.40.20, 1 hit
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
IPR035735 Shank1_SH3
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, 6 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, 3 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y566-1) [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
MTHSPATSED EERHSASECP EGGSESDSSP DGPGRGPRGT RGQGSGAPGS 
        60         70         80         90        100
LASVRGLQGR SMSVPDDAHF SMMVFRIGIP DLHQTKCLRF NPDATIWTAK 
       110        120        130        140        150
QQVLCALSES LQDVLNYGLF QPATSGRDAN FLEEERLLRE YPQSFEKGVP 
       160        170        180        190        200
YLEFRYKTRV YKQTNLDEKQ LAKLHTKTGL KKFLEYVQLG TSDKVARLLD 
       210        220        230        240        250
KGLDPNYHDS DSGETPLTLA AQTEGSVEVI RTLCLGGAHI DFRARDGMTA 
       260        270        280        290        300
LHKAACARHC LALTALLDLG GSPNYKDRRG LTPLFHTAMV GGDPRCCELL 
       310        320        330        340        350
LFNRAQLGIA DENGWQEIHQ ACQRGHSQHL EHLLFYGAEP GAQNASGNTA 
       360        370        380        390        400
LHICALYNKE TCARILLYRG ADKDVKNNNG QTPFQVAVIA GNFELGELIR 
       410        420        430        440        450
NHREQDVVPF QESPKYAARR RGPPGTGLTV PPALLRANSD TSMALPDWMV 
       460        470        480        490        500
FSAPGAASSG APGPTSGSQG QSQPSAPTTK LSSGTLRSAS SPRGARARSP 
       510        520        530        540        550
SRGRHPEDAK RQPRGRPSSS GTPREGPAGG TGGSGGPGGS LGSRGRRRKL 
       560        570        580        590        600
YSAVPGRSFM AVKSYQAQAE GEISLSKGEK IKVLSIGEGG FWEGQVKGRV 
       610        620        630        640        650
GWFPSDCLEE VANRSQESKQ ESRSDKAKRL FRHYTVGSYD SFDAPSLMDG 
       660        670        680        690        700
IGPGSDYIIK EKTVLLQKKD SEGFGFVLRG AKAQTPIEEF TPTPAFPALQ 
       710        720        730        740        750
YLESVDEGGV AWRAGLRMGD FLIEVNGQNV VKVGHRQVVN MIRQGGNTLM 
       760        770        780        790        800
VKVVMVTRHP DMDEAVHKKA PQQAKRLPPP TISLRSKSMT SELEEMEYEQ 
       810        820        830        840        850
QPAPVPSMEK KRTVYQMALN KLDEILAAAQ QTISASESPG PGGLASLGKH 
       860        870        880        890        900
RPKGFFATES SFDPHHRAQP SYERPSFLPP GPGLMLRQKS IGAAEDDRPY 
       910        920        930        940        950
LAPPAMKFSR SLSVPGSEDI PPPPTTSPPE PPYSTPPVPS SSGRLTPSPR 
       960        970        980        990       1000
GGPFNPGSGG PLPASSPASF DGPSPPDTRV GSREKSLYHS GPLPPAHHHP 
      1010       1020       1030       1040       1050
PHHHHHHAPP PQPHHHHAHP PHPPEMETGG SPDDPPPRLA LGPQPSLRGW 
      1060       1070       1080       1090       1100
RGGGPSPTPG APSPSHHGSA GGGGGSSQGP ALRYFQLPPR AASAAMYVPA 
      1110       1120       1130       1140       1150
RSGRGRKGPL VKQTKVEGEP QKGGGLPPAP SPTSPASPQP PPAVAAPSEK 
      1160       1170       1180       1190       1200
NSIPIPTIII KAPSTSSSGR SSQGSSTEAE PPTQPEPTGG GGGGGSSPSP 
      1210       1220       1230       1240       1250
APAMSPVPPS PSPVPTPASP SGPATLDFTS QFGAALVGAA RREGGWQNEA 
      1260       1270       1280       1290       1300
RRRSTLFLST DAGDEDGGDG GLGTGAAPGP RLRHSKSIDE GMFSAEPYLR 
      1310       1320       1330       1340       1350
LESAGSGAGY GGYGAGSRAY GGGGGSSAFT SFLPPRPLVH PLTGKALDPA 
      1360       1370       1380       1390       1400
SPLGLALAAR ERALKESSEG GGAPQPPPRP PSPRYEAPPP TPHHHSPHAH 
      1410       1420       1430       1440       1450
HEPVLRLWGA SPPDPARREL GYRAGLGSQE KSLPASPPAA RRSLLHRLPP 
      1460       1470       1480       1490       1500
TAPGVGPLLL QLGTEPPAPH PGVSKPWRSA APEEPERLPL HVRFLENCQP 
      1510       1520       1530       1540       1550
RAPVTSGRGP PSEDGPGVPP PSPRRSVPPS PTSPRASEEN GLPLLVLPPP 
      1560       1570       1580       1590       1600
APSVDVEDGE FLFVEPLPPP LEFSNSFEKP ESPLTPGPPH PLPDTPAPAT 
      1610       1620       1630       1640       1650
PLPPVPPPAV AAAPPTLDST ASSLTSYDSE VATLTQGASA APGDPHPPGP 
      1660       1670       1680       1690       1700
PAPAAPAPAA PQPGPDPPPG TDSGIEEVDS RSSSDHPLET ISSASTLSSL 
      1710       1720       1730       1740       1750
SAEGGGSAGG GGGAGAGVAS GPELLDTYVA YLDGQAFGGS STPGPPYPPQ 
      1760       1770       1780       1790       1800
LMTPSKLRGR ALGASGGLRP GPSGGLRDPV TPTSPTVSVT GAGTDGLLAL 
      1810       1820       1830       1840       1850
RACSGPPTAG VAGGPVAVEP EVPPVPLPTA SSLPRKLLPW EEGPGPPPPP 
      1860       1870       1880       1890       1900
LPGPLAQPQA SALATVKASI ISELSSKLQQ FGGSSAAGGA LPWARGGSGG 
      1910       1920       1930       1940       1950
GGDSHHGGAS YVPERTSSLQ RQRLSDDSQS SLLSKPVSSL FQNWPKPPLP 
      1960       1970       1980       1990       2000
PLPTGTGVSP TAAAAPGATS PSASSSSTST RHLQGVEFEM RPPLLRRAPS 
      2010       2020       2030       2040       2050
PSLLPASEHK VSPAPRPSSL PILPSGPLYP GLFDIRGSPT GGAGGSADPF 
      2060       2070       2080       2090       2100
APVFVPPHPG ISGGLGGALS GASRSLSPTR LLSLPPDKPF GAKPLGFWTK 
      2110       2120       2130       2140       2150
FDVADWLEWL GLAEHRAQFL DHEIDGSHLP ALTKEDYVDL GVTRVGHRMN 
      2160 
IDRALKFFLE R
Length:2,161
Mass (Da):224,959
Last modified:May 5, 2009 - v2
Checksum:i94BDE56D3D5F319D
GO
Isoform 2 (identifier: Q9Y566-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-613: Missing.
     614-654: RSQESKQESR...PSLMDGIGPG → MQLMALEQRF...PPPHFSCLPA

Show »
Length:1,548
Mass (Da):158,792
Checksum:i450025F37316FBEF
GO
Isoform 3 (identifier: Q9Y566-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     646-654: Missing.

Show »
Length:2,152
Mass (Da):224,131
Checksum:i2BC1557113CF4DDF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti927S → Y in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti927S → Y in AAF35887 (PubMed:10551867).Curated1
Sequence conflicti937P → T in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti937P → T in AAF35887 (PubMed:10551867).Curated1
Sequence conflicti969S → T in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti969S → T in AAF35887 (PubMed:10551867).Curated1
Sequence conflicti1085F → I in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti1085F → I in AAF35887 (PubMed:10551867).Curated1
Sequence conflicti1133T → S in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti1133T → S in AAF35887 (PubMed:10551867).Curated1
Sequence conflicti1832S → C in AAD45121 (PubMed:10551867).Curated1
Sequence conflicti1832S → C in AAF35887 (PubMed:10551867).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0553186A → V. Corresponds to variant dbSNP:rs10423744Ensembl.1
Natural variantiVAR_036541569A → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0221231504V → A. Corresponds to variant dbSNP:rs3745521Ensembl.1
Natural variantiVAR_0365422026G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200040610Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0060691 – 613Missing in isoform 2. 1 PublicationAdd BLAST613
Alternative sequenceiVSP_006070614 – 654RSQES…GIGPG → MQLMALEQRFGSGLPGGGQP LCLMMSSPLPPPPPHFSCLP A in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_006071646 – 654Missing in isoform 3. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF163302 mRNA Translation: AAD45121.1
AF226728 mRNA Translation: AAF35887.1
AC008743 Genomic DNA No translation available.
AC010325 Genomic DNA No translation available.
CCDSiCCDS12799.1 [Q9Y566-1]
RefSeqiNP_057232.2, NM_016148.3 [Q9Y566-1]
XP_006723296.1, XM_006723233.3
XP_011525316.1, XM_011527014.2 [Q9Y566-3]
UniGeneiHs.274255
Hs.621823
Hs.626179
Hs.715488

Genome annotation databases

EnsembliENST00000293441; ENSP00000293441; ENSG00000161681 [Q9Y566-1]
ENST00000359082; ENSP00000351984; ENSG00000161681 [Q9Y566-3]
ENST00000391813; ENSP00000375689; ENSG00000161681 [Q9Y566-2]
GeneIDi50944
KEGGihsa:50944
UCSCiuc002psw.2 human [Q9Y566-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSHAN1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y566
Secondary accession number(s): A8MXP5, B7WNY6, Q9NYW9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 5, 2009
Last modified: June 20, 2018
This is version 171 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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