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UniProtKB - Q9Y566 (SHAN1_HUMAN)

Entry version 194 (07 Apr 2021)
Sequence version 2 (05 May 2009)
Previous versions | rss
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Protein

SH3 and multiple ankyrin repeat domains protein 1

Gene

SHANK1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y566

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6794361, Neurexins and neuroligins

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y566

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SHANK1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15474, SHANK1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604999, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y566

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000161681.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cytoplasm, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		50944

Open Targets

More...OpenTargetsi		ENSG00000161681

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37965

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y566, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SHANK1

Domain mapping of disease mutations (DMDM)

More...DMDMi		229462779

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001746711 – 2161SH3 and multiple ankyrin repeat domains protein 1Add BLAST2161

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y566

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y566

PeptideAtlas

More...PeptideAtlasi		Q9Y566

PRoteomics IDEntifications database

More...PRIDEi		Q9Y566

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86293 [Q9Y566-1]
86294 [Q9Y566-2]
86295 [Q9Y566-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y566

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y566

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000161681, Expressed in dorsolateral prefrontal cortex and 107 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y566, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y566, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000161681, Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119171, 23 interactors

Database of interacting proteins

More...DIPi		DIP-40834N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9Y566

Protein interaction database and analysis system

More...IntActi		Q9Y566, 21 interactors

Molecular INTeraction database

More...MINTi		Q9Y566

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000293441

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y566, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12161
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y566

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati212 – 245ANK 1Add BLAST34
Repeati246 – 278ANK 2Add BLAST33
Repeati279 – 312ANK 3Add BLAST34
Repeati313 – 345ANK 4Add BLAST33
Repeati346 – 378ANK 5Add BLAST33
Repeati379 – 395ANK 6Add BLAST17
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini554 – 613SH3PROSITE-ProRule annotationAdd BLAST60
Domaini663 – 757PDZPROSITE-ProRule annotationAdd BLAST95
Domaini2098 – 2161SAMPROSITE-ProRule annotationAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SHANK family.Curated

Keywords - Domaini

ANK repeat, Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0504, Eukaryota
KOG4375, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153561

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001824_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y566

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y566

TreeFam database of animal gene trees

More...TreeFami		TF324593

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.150.50, 1 hit
1.25.40.20, 1 hit
2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR001478, PDZ
IPR041489, PDZ_6
IPR036034, PDZ_sf
IPR001660, SAM
IPR013761, SAM/pointed_sf
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12796, Ank_2, 2 hits
PF17820, PDZ_6, 1 hit
PF00536, SAM_1, 1 hit
PF07653, SH3_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248, ANK, 6 hits
SM00228, PDZ, 1 hit
SM00454, SAM, 1 hit
SM00326, SH3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47769, SSF47769, 1 hit
SSF48403, SSF48403, 1 hit
SSF50044, SSF50044, 1 hit
SSF50156, SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y566-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H9KV90H9KV90_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK1
2,169Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYB5M0QYB5_HUMAN
SH3 and multiple ankyrin repeat dom...
SHANK1
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12799.1 [Q9Y566-1]

NCBI Reference Sequences

More...RefSeqi		NP_057232.2, NM_016148.3 [Q9Y566-1]
XP_006723296.1, XM_006723233.3
XP_011525316.1, XM_011527014.2 [Q9Y566-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000293441; ENSP00000293441; ENSG00000161681 [Q9Y566-1]
ENST00000359082; ENSP00000351984; ENSG00000161681 [Q9Y566-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		50944

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:50944

UCSC genome browser

More...UCSCi		uc002psw.2, human [Q9Y566-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CPINMR-A554-613[»]
SMRiQ9Y566
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119171, 23 interactors
DIPiDIP-40834N
ELMiQ9Y566
IntActiQ9Y566, 21 interactors
MINTiQ9Y566
STRINGi9606.ENSP00000293441

PTM databases

iPTMnetiQ9Y566
PhosphoSitePlusiQ9Y566

Genetic variation databases

BioMutaiSHANK1
DMDMi229462779

Proteomic databases

MassIVEiQ9Y566
PaxDbiQ9Y566
PeptideAtlasiQ9Y566
PRIDEiQ9Y566
ProteomicsDBi86293 [Q9Y566-1]
86294 [Q9Y566-2]
86295 [Q9Y566-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q9Y566, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18886, 225 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		50944
DisGeNETi50944

GeneCards: human genes, protein and diseases

More...GeneCardsi		SHANK1
HGNCiHGNC:15474, SHANK1
HPAiENSG00000161681, Tissue enriched (brain)
MIMi604999, gene
neXtProtiNX_Q9Y566
OpenTargetsiENSG00000161681
PharmGKBiPA37965
VEuPathDBiHostDB:ENSG00000161681.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0504, Eukaryota
KOG4375, Eukaryota
GeneTreeiENSGT00940000153561
HOGENOMiCLU_001824_1_0_1
InParanoidiQ9Y566
PhylomeDBiQ9Y566
TreeFamiTF324593

Enzyme and pathway databases

PathwayCommonsiQ9Y566
ReactomeiR-HSA-6794361, Neurexins and neuroligins
SIGNORiQ9Y566

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		50944, 1 hit in 988 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SHANK1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SHANK1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		50944
PharosiQ9Y566, Tbio

Protein Ontology

More...PROi		PR:Q9Y566
RNActiQ9Y566, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000161681, Expressed in dorsolateral prefrontal cortex and 107 other tissues
ExpressionAtlasiQ9Y566, baseline and differential
GenevisibleiQ9Y566, HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
1.25.40.20, 1 hit
2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR002110, Ankyrin_rpt
IPR020683, Ankyrin_rpt-contain_dom
IPR036770, Ankyrin_rpt-contain_sf
IPR001478, PDZ
IPR041489, PDZ_6
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
PF17820, PDZ_6, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSHAN1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y566
Secondary accession number(s): A8MXP5, B7WNY6, Q9NYW9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 5, 2009
Last modified: April 7, 2021
This is version 194 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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