Q9Y566 (SHAN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

SHANK1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2161 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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. Ref.1 Ref.4
Subcellular location	Cytoplasm By similarity. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density By similarity. Cell junction › synapse By similarity. Note: Postsynaptic density of neuronal cells By similarity.
Tissue specificity	Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus. Isoform 2 seems to be expressed ubiquitously.
Sequence similarities	Belongs to the SHANK family. Contains 6 ANK repeats. Contains 1 PDZ (DHR) domain. Contains 1 SAM (sterile alpha motif) domain. Contains 1 SH3 domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Cell junction Cell membrane Cytoplasm Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat SH3 domain
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	associative learning Inferred from sequence or structural similarity. Source: BHF-UCL cytoskeletal anchoring at plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB dendritic spine morphogenesis Inferred from sequence or structural similarity. Source: BHF-UCL determination of affect Inferred from mutant phenotype PubMed 22503632. Source: BHF-UCL habituation Inferred from electronic annotation. Source: Compara long-term memory Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of actin filament bundle assembly Inferred from electronic annotation. Source: Compara neuromuscular process controlling balance Inferred from sequence or structural similarity. Source: BHF-UCL olfactory behavior Inferred from electronic annotation. Source: Compara positive regulation of dendritic spine development Inferred from electronic annotation. Source: Compara positive regulation of excitatory postsynaptic membrane potential Inferred from sequence or structural similarity. Source: BHF-UCL protein complex assembly Inferred from sequence or structural similarity. Source: BHF-UCL protein localization to synapse Inferred from sequence or structural similarity. Source: BHF-UCL regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Inferred from sequence or structural similarity. Source: BHF-UCL righting reflex Inferred from electronic annotation. Source: Compara social behavior Inferred from mutant phenotype PubMed 22503632. Source: BHF-UCL synapse maturation Inferred from electronic annotation. Source: Compara vocalization behavior Inferred from mutant phenotype PubMed 22503632. Source: BHF-UCL
Cellular_component	N-methyl-D-aspartate selective glutamate receptor complex Inferred from electronic annotation. Source: Compara cell junction Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell excitatory synapse Inferred from sequence or structural similarity. Source: BHF-UCL plasma membrane Inferred from sequence or structural similarity. Source: BHF-UCL postsynaptic density Inferred from sequence or structural similarity. Source: BHF-UCL postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	GKAP/Homer scaffold activity Inferred from sequence or structural similarity. Source: BHF-UCL SH3 domain binding Inferred from sequence or structural similarity. Source: BHF-UCL ankyrin repeat binding Inferred from sequence or structural similarity. Source: BHF-UCL identical protein binding Inferred from sequence or structural similarity. Source: BHF-UCL ionotropic glutamate receptor binding Inferred from sequence or structural similarity. Source: BHF-UCL scaffold protein binding Inferred from sequence or structural similarity. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y566-1)

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.

Isoform 2 (identifier: Q9Y566-2)

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

Isoform 3 (identifier: Q9Y566-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2161	2161	SH3 and multiple ankyrin repeat domains protein 1		PRO_0000174671
Regions
	Repeat	212 – 245	34	ANK 1
	Repeat	246 – 278	33	ANK 2
	Repeat	279 – 312	34	ANK 3
	Repeat	313 – 345	33	ANK 4
	Repeat	346 – 378	33	ANK 5
	Repeat	379 – 395	17	ANK 6
	Domain	554 – 613	60	SH3
	Domain	663 – 757	95	PDZ
	Domain	2098 – 2161	64	SAM
	Compositional bias	1002 – 1007	6	Poly-His
	Compositional bias	1014 – 1019	6	Poly-His
	Compositional bias	1189 – 1195	7	Poly-Gly
	Compositional bias	1709 – 1717	9	Poly-Gly
	Compositional bias	1844 – 1854	11	Poly-Pro
	Compositional bias	1896 – 1902	7	Poly-Gly
	Compositional bias	1970 – 1979	10	Poly-Ser
Natural variations
	Alternative sequence	1 – 613	613	Missing in isoform 2.		VSP_006069
	Alternative sequence	614 – 654	41	RSQES…GIGPG → MQLMALEQRFGSGLPGGGQP LCLMMSSPLPPPPPHFSCLP A in isoform 2.		VSP_006070
	Alternative sequence	646 – 654	9	Missing in isoform 3.		VSP_006071
	Natural variant	6	1	A → V. Corresponds to variant rs10423744 [ dbSNP | Ensembl ].		VAR_055318
	Natural variant	569	1	A → D in a colorectal cancer sample; somatic mutation. Ref.5		VAR_036541
	Natural variant	1504	1	V → A. Corresponds to variant rs3745521 [ dbSNP | Ensembl ].		VAR_022123
	Natural variant	2026	1	G → R in a colorectal cancer sample; somatic mutation. Ref.5		VAR_036542
Experimental info
	Sequence conflict	927	1	S → Y in AAD45121. Ref.1
	Sequence conflict	927	1	S → Y in AAF35887. Ref.1
	Sequence conflict	937	1	P → T in AAD45121. Ref.1
	Sequence conflict	937	1	P → T in AAF35887. Ref.1
	Sequence conflict	969	1	S → T in AAD45121. Ref.1
	Sequence conflict	969	1	S → T in AAF35887. Ref.1
	Sequence conflict	1085	1	F → I in AAD45121. Ref.1
	Sequence conflict	1085	1	F → I in AAF35887. Ref.1
	Sequence conflict	1133	1	T → S in AAD45121. Ref.1
	Sequence conflict	1133	1	T → S in AAF35887. Ref.1
	Sequence conflict	1832	1	S → C in AAD45121. Ref.1
	Sequence conflict	1832	1	S → C in AAF35887. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified May 5, 2009. Version 2. Checksum: 94BDE56D3D5F319D	FASTA	2,161	224,959
	10 20 30 40 50 60 MTHSPATSED EERHSASECP EGGSESDSSP DGPGRGPRGT RGQGSGAPGS LASVRGLQGR 70 80 90 100 110 120 SMSVPDDAHF SMMVFRIGIP DLHQTKCLRF NPDATIWTAK QQVLCALSES LQDVLNYGLF 130 140 150 160 170 180 QPATSGRDAN FLEEERLLRE YPQSFEKGVP YLEFRYKTRV YKQTNLDEKQ LAKLHTKTGL 190 200 210 220 230 240 KKFLEYVQLG TSDKVARLLD KGLDPNYHDS DSGETPLTLA AQTEGSVEVI RTLCLGGAHI 250 260 270 280 290 300 DFRARDGMTA LHKAACARHC LALTALLDLG GSPNYKDRRG LTPLFHTAMV GGDPRCCELL 310 320 330 340 350 360 LFNRAQLGIA DENGWQEIHQ ACQRGHSQHL EHLLFYGAEP GAQNASGNTA LHICALYNKE 370 380 390 400 410 420 TCARILLYRG ADKDVKNNNG QTPFQVAVIA GNFELGELIR NHREQDVVPF QESPKYAARR 430 440 450 460 470 480 RGPPGTGLTV PPALLRANSD TSMALPDWMV FSAPGAASSG APGPTSGSQG QSQPSAPTTK 490 500 510 520 530 540 LSSGTLRSAS SPRGARARSP SRGRHPEDAK RQPRGRPSSS GTPREGPAGG TGGSGGPGGS 550 560 570 580 590 600 LGSRGRRRKL YSAVPGRSFM AVKSYQAQAE GEISLSKGEK IKVLSIGEGG FWEGQVKGRV 610 620 630 640 650 660 GWFPSDCLEE VANRSQESKQ ESRSDKAKRL FRHYTVGSYD SFDAPSLMDG IGPGSDYIIK 670 680 690 700 710 720 EKTVLLQKKD SEGFGFVLRG AKAQTPIEEF TPTPAFPALQ YLESVDEGGV AWRAGLRMGD 730 740 750 760 770 780 FLIEVNGQNV VKVGHRQVVN MIRQGGNTLM VKVVMVTRHP DMDEAVHKKA PQQAKRLPPP 790 800 810 820 830 840 TISLRSKSMT SELEEMEYEQ QPAPVPSMEK KRTVYQMALN KLDEILAAAQ QTISASESPG 850 860 870 880 890 900 PGGLASLGKH RPKGFFATES SFDPHHRAQP SYERPSFLPP GPGLMLRQKS IGAAEDDRPY 910 920 930 940 950 960 LAPPAMKFSR SLSVPGSEDI PPPPTTSPPE PPYSTPPVPS SSGRLTPSPR GGPFNPGSGG 970 980 990 1000 1010 1020 PLPASSPASF DGPSPPDTRV GSREKSLYHS GPLPPAHHHP PHHHHHHAPP PQPHHHHAHP 1030 1040 1050 1060 1070 1080 PHPPEMETGG SPDDPPPRLA LGPQPSLRGW RGGGPSPTPG APSPSHHGSA GGGGGSSQGP 1090 1100 1110 1120 1130 1140 ALRYFQLPPR AASAAMYVPA RSGRGRKGPL VKQTKVEGEP QKGGGLPPAP SPTSPASPQP 1150 1160 1170 1180 1190 1200 PPAVAAPSEK NSIPIPTIII KAPSTSSSGR SSQGSSTEAE PPTQPEPTGG GGGGGSSPSP 1210 1220 1230 1240 1250 1260 APAMSPVPPS PSPVPTPASP SGPATLDFTS QFGAALVGAA RREGGWQNEA RRRSTLFLST 1270 1280 1290 1300 1310 1320 DAGDEDGGDG GLGTGAAPGP RLRHSKSIDE GMFSAEPYLR LESAGSGAGY GGYGAGSRAY 1330 1340 1350 1360 1370 1380 GGGGGSSAFT SFLPPRPLVH PLTGKALDPA SPLGLALAAR ERALKESSEG GGAPQPPPRP 1390 1400 1410 1420 1430 1440 PSPRYEAPPP TPHHHSPHAH HEPVLRLWGA SPPDPARREL GYRAGLGSQE KSLPASPPAA 1450 1460 1470 1480 1490 1500 RRSLLHRLPP TAPGVGPLLL QLGTEPPAPH PGVSKPWRSA APEEPERLPL HVRFLENCQP 1510 1520 1530 1540 1550 1560 RAPVTSGRGP PSEDGPGVPP PSPRRSVPPS PTSPRASEEN GLPLLVLPPP APSVDVEDGE 1570 1580 1590 1600 1610 1620 FLFVEPLPPP LEFSNSFEKP ESPLTPGPPH PLPDTPAPAT PLPPVPPPAV AAAPPTLDST 1630 1640 1650 1660 1670 1680 ASSLTSYDSE VATLTQGASA APGDPHPPGP PAPAAPAPAA PQPGPDPPPG TDSGIEEVDS 1690 1700 1710 1720 1730 1740 RSSSDHPLET ISSASTLSSL SAEGGGSAGG GGGAGAGVAS GPELLDTYVA YLDGQAFGGS 1750 1760 1770 1780 1790 1800 STPGPPYPPQ LMTPSKLRGR ALGASGGLRP GPSGGLRDPV TPTSPTVSVT GAGTDGLLAL 1810 1820 1830 1840 1850 1860 RACSGPPTAG VAGGPVAVEP EVPPVPLPTA SSLPRKLLPW EEGPGPPPPP LPGPLAQPQA 1870 1880 1890 1900 1910 1920 SALATVKASI ISELSSKLQQ FGGSSAAGGA LPWARGGSGG GGDSHHGGAS YVPERTSSLQ 1930 1940 1950 1960 1970 1980 RQRLSDDSQS SLLSKPVSSL FQNWPKPPLP PLPTGTGVSP TAAAAPGATS PSASSSSTST 1990 2000 2010 2020 2030 2040 RHLQGVEFEM RPPLLRRAPS PSLLPASEHK VSPAPRPSSL PILPSGPLYP GLFDIRGSPT 2050 2060 2070 2080 2090 2100 GGAGGSADPF APVFVPPHPG ISGGLGGALS GASRSLSPTR LLSLPPDKPF GAKPLGFWTK 2110 2120 2130 2140 2150 2160 FDVADWLEWL GLAEHRAQFL DHEIDGSHLP ALTKEDYVDL GVTRVGHRMN IDRALKFFLE R
	Isoform 2 (B) [UniParc]. Checksum: 450025F37316FBEF	FASTA	1,548	158,792
	10 20 30 40 50 60 MQLMALEQRF GSGLPGGGQP LCLMMSSPLP PPPPHFSCLP ASDYIIKEKT VLLQKKDSEG 70 80 90 100 110 120 FGFVLRGAKA QTPIEEFTPT PAFPALQYLE SVDEGGVAWR AGLRMGDFLI EVNGQNVVKV 130 140 150 160 170 180 GHRQVVNMIR QGGNTLMVKV VMVTRHPDMD EAVHKKAPQQ AKRLPPPTIS LRSKSMTSEL 190 200 210 220 230 240 EEMEYEQQPA PVPSMEKKRT VYQMALNKLD EILAAAQQTI SASESPGPGG LASLGKHRPK 250 260 270 280 290 300 GFFATESSFD PHHRAQPSYE RPSFLPPGPG LMLRQKSIGA AEDDRPYLAP PAMKFSRSLS 310 320 330 340 350 360 VPGSEDIPPP PTTSPPEPPY STPPVPSSSG RLTPSPRGGP FNPGSGGPLP ASSPASFDGP 370 380 390 400 410 420 SPPDTRVGSR EKSLYHSGPL PPAHHHPPHH HHHHAPPPQP HHHHAHPPHP PEMETGGSPD 430 440 450 460 470 480 DPPPRLALGP QPSLRGWRGG GPSPTPGAPS PSHHGSAGGG GGSSQGPALR YFQLPPRAAS 490 500 510 520 530 540 AAMYVPARSG RGRKGPLVKQ TKVEGEPQKG GGLPPAPSPT SPASPQPPPA VAAPSEKNSI 550 560 570 580 590 600 PIPTIIIKAP STSSSGRSSQ GSSTEAEPPT QPEPTGGGGG GGSSPSPAPA MSPVPPSPSP 610 620 630 640 650 660 VPTPASPSGP ATLDFTSQFG AALVGAARRE GGWQNEARRR STLFLSTDAG DEDGGDGGLG 670 680 690 700 710 720 TGAAPGPRLR HSKSIDEGMF SAEPYLRLES AGSGAGYGGY GAGSRAYGGG GGSSAFTSFL 730 740 750 760 770 780 PPRPLVHPLT GKALDPASPL GLALAARERA LKESSEGGGA PQPPPRPPSP RYEAPPPTPH 790 800 810 820 830 840 HHSPHAHHEP VLRLWGASPP DPARRELGYR AGLGSQEKSL PASPPAARRS LLHRLPPTAP 850 860 870 880 890 900 GVGPLLLQLG TEPPAPHPGV SKPWRSAAPE EPERLPLHVR FLENCQPRAP VTSGRGPPSE 910 920 930 940 950 960 DGPGVPPPSP RRSVPPSPTS PRASEENGLP LLVLPPPAPS VDVEDGEFLF VEPLPPPLEF 970 980 990 1000 1010 1020 SNSFEKPESP LTPGPPHPLP DTPAPATPLP PVPPPAVAAA PPTLDSTASS LTSYDSEVAT 1030 1040 1050 1060 1070 1080 LTQGASAAPG DPHPPGPPAP AAPAPAAPQP GPDPPPGTDS GIEEVDSRSS SDHPLETISS 1090 1100 1110 1120 1130 1140 ASTLSSLSAE GGGSAGGGGG AGAGVASGPE LLDTYVAYLD GQAFGGSSTP GPPYPPQLMT 1150 1160 1170 1180 1190 1200 PSKLRGRALG ASGGLRPGPS GGLRDPVTPT SPTVSVTGAG TDGLLALRAC SGPPTAGVAG 1210 1220 1230 1240 1250 1260 GPVAVEPEVP PVPLPTASSL PRKLLPWEEG PGPPPPPLPG PLAQPQASAL ATVKASIISE 1270 1280 1290 1300 1310 1320 LSSKLQQFGG SSAAGGALPW ARGGSGGGGD SHHGGASYVP ERTSSLQRQR LSDDSQSSLL 1330 1340 1350 1360 1370 1380 SKPVSSLFQN WPKPPLPPLP TGTGVSPTAA AAPGATSPSA SSSSTSTRHL QGVEFEMRPP 1390 1400 1410 1420 1430 1440 LLRRAPSPSL LPASEHKVSP APRPSSLPIL PSGPLYPGLF DIRGSPTGGA GGSADPFAPV 1450 1460 1470 1480 1490 1500 FVPPHPGISG GLGGALSGAS RSLSPTRLLS LPPDKPFGAK PLGFWTKFDV ADWLEWLGLA 1510 1520 1530 1540 EHRAQFLDHE IDGSHLPALT KEDYVDLGVT RVGHRMNIDR ALKFFLER
	Isoform 3 [UniParc]. Checksum: 2BC1557113CF4DDF	FASTA	2,152	224,131
	10 20 30 40 50 60 MTHSPATSED EERHSASECP EGGSESDSSP DGPGRGPRGT RGQGSGAPGS LASVRGLQGR 70 80 90 100 110 120 SMSVPDDAHF SMMVFRIGIP DLHQTKCLRF NPDATIWTAK QQVLCALSES LQDVLNYGLF 130 140 150 160 170 180 QPATSGRDAN FLEEERLLRE YPQSFEKGVP YLEFRYKTRV YKQTNLDEKQ LAKLHTKTGL 190 200 210 220 230 240 KKFLEYVQLG TSDKVARLLD KGLDPNYHDS DSGETPLTLA AQTEGSVEVI RTLCLGGAHI 250 260 270 280 290 300 DFRARDGMTA LHKAACARHC LALTALLDLG GSPNYKDRRG LTPLFHTAMV GGDPRCCELL 310 320 330 340 350 360 LFNRAQLGIA DENGWQEIHQ ACQRGHSQHL EHLLFYGAEP GAQNASGNTA LHICALYNKE 370 380 390 400 410 420 TCARILLYRG ADKDVKNNNG QTPFQVAVIA GNFELGELIR NHREQDVVPF QESPKYAARR 430 440 450 460 470 480 RGPPGTGLTV PPALLRANSD TSMALPDWMV FSAPGAASSG APGPTSGSQG QSQPSAPTTK 490 500 510 520 530 540 LSSGTLRSAS SPRGARARSP SRGRHPEDAK RQPRGRPSSS GTPREGPAGG TGGSGGPGGS 550 560 570 580 590 600 LGSRGRRRKL YSAVPGRSFM AVKSYQAQAE GEISLSKGEK IKVLSIGEGG FWEGQVKGRV 610 620 630 640 650 660 GWFPSDCLEE VANRSQESKQ ESRSDKAKRL FRHYTVGSYD SFDAPSDYII KEKTVLLQKK 670 680 690 700 710 720 DSEGFGFVLR GAKAQTPIEE FTPTPAFPAL QYLESVDEGG VAWRAGLRMG DFLIEVNGQN 730 740 750 760 770 780 VVKVGHRQVV NMIRQGGNTL MVKVVMVTRH PDMDEAVHKK APQQAKRLPP PTISLRSKSM 790 800 810 820 830 840 TSELEEMEYE QQPAPVPSME KKRTVYQMAL NKLDEILAAA QQTISASESP GPGGLASLGK 850 860 870 880 890 900 HRPKGFFATE SSFDPHHRAQ PSYERPSFLP PGPGLMLRQK SIGAAEDDRP YLAPPAMKFS 910 920 930 940 950 960 RSLSVPGSED IPPPPTTSPP EPPYSTPPVP SSSGRLTPSP RGGPFNPGSG GPLPASSPAS 970 980 990 1000 1010 1020 FDGPSPPDTR VGSREKSLYH SGPLPPAHHH PPHHHHHHAP PPQPHHHHAH PPHPPEMETG 1030 1040 1050 1060 1070 1080 GSPDDPPPRL ALGPQPSLRG WRGGGPSPTP GAPSPSHHGS AGGGGGSSQG PALRYFQLPP 1090 1100 1110 1120 1130 1140 RAASAAMYVP ARSGRGRKGP LVKQTKVEGE PQKGGGLPPA PSPTSPASPQ PPPAVAAPSE 1150 1160 1170 1180 1190 1200 KNSIPIPTII IKAPSTSSSG RSSQGSSTEA EPPTQPEPTG GGGGGGSSPS PAPAMSPVPP 1210 1220 1230 1240 1250 1260 SPSPVPTPAS PSGPATLDFT SQFGAALVGA ARREGGWQNE ARRRSTLFLS TDAGDEDGGD 1270 1280 1290 1300 1310 1320 GGLGTGAAPG PRLRHSKSID EGMFSAEPYL RLESAGSGAG YGGYGAGSRA YGGGGGSSAF 1330 1340 1350 1360 1370 1380 TSFLPPRPLV HPLTGKALDP ASPLGLALAA RERALKESSE GGGAPQPPPR PPSPRYEAPP 1390 1400 1410 1420 1430 1440 PTPHHHSPHA HHEPVLRLWG ASPPDPARRE LGYRAGLGSQ EKSLPASPPA ARRSLLHRLP 1450 1460 1470 1480 1490 1500 PTAPGVGPLL LQLGTEPPAP HPGVSKPWRS AAPEEPERLP LHVRFLENCQ PRAPVTSGRG 1510 1520 1530 1540 1550 1560 PPSEDGPGVP PPSPRRSVPP SPTSPRASEE NGLPLLVLPP PAPSVDVEDG EFLFVEPLPP 1570 1580 1590 1600 1610 1620 PLEFSNSFEK PESPLTPGPP HPLPDTPAPA TPLPPVPPPA VAAAPPTLDS TASSLTSYDS 1630 1640 1650 1660 1670 1680 EVATLTQGAS AAPGDPHPPG PPAPAAPAPA APQPGPDPPP GTDSGIEEVD SRSSSDHPLE 1690 1700 1710 1720 1730 1740 TISSASTLSS LSAEGGGSAG GGGGAGAGVA SGPELLDTYV AYLDGQAFGG SSTPGPPYPP 1750 1760 1770 1780 1790 1800 QLMTPSKLRG RALGASGGLR PGPSGGLRDP VTPTSPTVSV TGAGTDGLLA LRACSGPPTA 1810 1820 1830 1840 1850 1860 GVAGGPVAVE PEVPPVPLPT ASSLPRKLLP WEEGPGPPPP PLPGPLAQPQ ASALATVKAS 1870 1880 1890 1900 1910 1920 IISELSSKLQ QFGGSSAAGG ALPWARGGSG GGGDSHHGGA SYVPERTSSL QRQRLSDDSQ 1930 1940 1950 1960 1970 1980 SSLLSKPVSS LFQNWPKPPL PPLPTGTGVS PTAAAAPGAT SPSASSSSTS TRHLQGVEFE 1990 2000 2010 2020 2030 2040 MRPPLLRRAP SPSLLPASEH KVSPAPRPSS LPILPSGPLY PGLFDIRGSP TGGAGGSADP 2050 2060 2070 2080 2090 2100 FAPVFVPPHP GISGGLGGAL SGASRSLSPT RLLSLPPDKP FGAKPLGFWT KFDVADWLEW 2110 2120 2130 2140 2150 LGLAEHRAQF LDHEIDGSHL PALTKEDYVD LGVTRVGHRM NIDRALKFFL ER

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain." Zitzer H., Hoenck H.-H., Baechner D., Richter D., Kreienkamp H.-J. J. Biol. Chem. 274:32997-33001(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), INTERACTION WITH SSTR2. Tissue: Fetal brain, Hippocampus and Thalamus.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The Shank family of scaffold proteins." Sheng M., Kim E. J. Cell Sci. 113:1851-1856(2000) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[4]	"The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42." Soltau M., Richter D., Kreienkamp H.-J. Mol. Cell. Neurosci. 21:575-583(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BAIAP2.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-569 AND ARG-2026.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF163302 mRNA. Translation: AAD45121.1. AF226728 mRNA. Translation: AAF35887.1. AC008743 Genomic DNA. No translation available. AC010325 Genomic DNA. No translation available.
IPI	IPI00007695. IPI00220164. IPI00220165.
RefSeq	NP_057232.2. NM_016148.2.
UniGene	Hs.274255.
3D structure databases
ProteinModelPortal	Q9Y566.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-40834N.
IntAct	Q9Y566. 1 interaction.
MINT	MINT-101428.
STRING	9606.ENSP00000293441.
PTM databases
PhosphoSite	Q9Y566.
Polymorphism databases
DMDM	229462779.
Proteomic databases
PaxDb	Q9Y566.
PRIDE	Q9Y566.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293441; ENSP00000293441; ENSG00000161681. ENST00000359082; ENSP00000351984; ENSG00000161681. ENST00000391813; ENSP00000375689; ENSG00000161681.
GeneID	50944.
KEGG	hsa:50944.
UCSC	uc002psw.1. human. uc002psx.1. human.
Organism-specific databases
CTD	50944.
GeneCards	GC19M051165.
H-InvDB	HIX0015364.
HGNC	HGNC:15474. SHANK1.
HPA	HPA032129.
MIM	604999. gene.
neXtProt	NX_Q9Y566.
PharmGKB	PA37965.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0666.
HOGENOM	HOG000293276.
HOVERGEN	HBG079186.
KO	K15009.
OrthoDB	EOG48PMJ9.
PhylomeDB	Q9Y566.
Gene expression databases
ArrayExpress	Q9Y566.
Bgee	Q9Y566.
CleanEx	HS_SHANK1.
Genevestigator	Q9Y566.
GermOnline	ENSG00000161681. Homo sapiens.
Family and domain databases
Gene3D	1.10.150.50. 1 hit. 1.25.40.20. 1 hit.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR001478. PDZ. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Pfam	PF12796. Ank_2. 2 hits. PF00595. PDZ. 1 hit. PF00536. SAM_1. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view]
SMART	SM00248. ANK. 6 hits. SM00228. PDZ. 1 hit. SM00454. SAM. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF50156. PDZ. 1 hit. SSF47769. SAM_homology. 1 hit. SSF50044. SH3. 1 hit.
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. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	50944.
NextBio	53409.
SOURCE	Search...

Entry information

Entry name

SHAN1_HUMAN

Accession

Primary (citable) accession number: Q9Y566
Secondary accession number(s): A8MXP5, B7WNY6, Q9NYW9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 26, 2002
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 125 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.