Reviewed, UniProtKB/Swiss-Prot Q9BYB0 (SHAN3_HUMAN)

Names and origin

Protein names

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 names

Name:	SHANK3
Synonyms:	KIAA1650, PSAP2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1741 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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. May play 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 DLGAP1/GKAP, MGLUR1A, MGLUR5 C-termini via its PDZ domain By similarity. Interacts with HOMER1, HOMER2, HOMER3 and CCTN/cortactin SH3 domain By similarity. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with DBNL By similarity. Interacts with BAIAP2.
Subcellular location	Cytoplasm By similarity. Cell junction › synapse By similarity. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density By similarity. Note: Postsynaptic density of neuronal cells By similarity.
Tissue specificity	Expressed in the cerebral cortex and the cerebellum.
Involvement in disease	A chromosomal aberration disrupting SHANK3/PSAP2 is responsible for the clinical features of chromosome 22q13.3 deletion syndrome [MIM:606232]. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B. The phenotype is characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior and minor dysmorphic features. Defects in SHANK3 are a cause of autism spectrum disorders (ASD). 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). Ref.7
Sequence similarities	Contains 6 ANK repeats. Contains 1 PDZ (DHR) domain. Contains 1 SAM (sterile alpha motif) domain. Contains 1 SH3 domain.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Cytoplasm Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Domain	ANK repeat Coiled coil Repeat SH3 domain SH3-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic density Inferred from electronic annotation. Source: UniProtKB-SubCell postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	SH3 domain binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ABL1	P00519	1	EBI-1752330,EBI-375543
CRK	P46108	1	EBI-1752330,EBI-886
FYN	P06241	1	EBI-1752330,EBI-515315
GRB2	P62993	1	EBI-1752330,EBI-401755
NCK1	P16333	1	EBI-1752330,EBI-389883
PIK3R1	P27986	1	EBI-1752330,EBI-79464
PLCG1	P19174	1	EBI-1752330,EBI-79387
SRC	P12931	1	EBI-1752330,EBI-621482

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BYB0-1)

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: Q9BYB0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1536-1544: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1741	1741	SH3 and multiple ankyrin repeat domains protein 3		PRO_0000174675
Regions
	Repeat	148 – 178	31	ANK 1
	Repeat	182 – 211	30	ANK 2
	Repeat	215 – 245	31	ANK 3
	Repeat	249 – 278	30	ANK 4
	Repeat	282 – 311	30	ANK 5
	Repeat	315 – 345	31	ANK 6
	Domain	472 – 531	60	SH3
	Domain	572 – 666	95	PDZ
	Domain	1678 – 1741	64	SAM
	Coiled coil	1495 – 1515	21	Potential
	Motif	1411 – 1417	7	SH3-binding Potential
	Compositional bias	679 – 682	4	Poly-Pro
	Compositional bias	720 – 723	4	Poly-Ala
	Compositional bias	815 – 931	117	Pro-rich
	Compositional bias	1233 – 1350	118	Pro-rich
Amino acid modifications
	Modified residue	122	1	Phosphotyrosine By similarity
	Modified residue	375	1	Phosphoserine By similarity
	Modified residue	557	1	Phosphotyrosine By similarity
	Modified residue	566	1	Phosphotyrosine By similarity
	Modified residue	783	1	Phosphoserine By similarity
	Modified residue	1159	1	Phosphoserine Ref.8
	Modified residue	1163	1	Phosphoserine Ref.8
	Modified residue	1644	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1536 – 1544	9	Missing in isoform 2.		VSP_026160
	Natural variant	12	1	R → C Ref.7		VAR_032804
	Natural variant	198	1	A → G Ref.7		VAR_032805
	Natural variant	224	1	A → T Ref.7		VAR_032806
	Natural variant	245	1	I → T: dbSNP rs9616915.		VAR_032807
	Natural variant	300	1	R → C Ref.7		VAR_032808

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 12, 2007. Version 2. Checksum: 0CC40F1F53E6F6D4	FASTA	1,741	186,295
	10 20 30 40 50 60 MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA LNYGLFQPPS 70 80 90 100 110 120 RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN LIDDKQFAKL HTKANLKKFM 130 140 150 160 170 180 DYVQLHSTDK VARLLDKGLD PNFHDPDSGE CPLSLAAQLD NATDLLKVLK NGGAHLDFRT 190 200 210 220 230 240 RDGLTAVHCA TRQRNAAALT TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH 250 260 270 280 290 300 AQLGITDENG WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 310 320 330 340 350 360 VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP SYAKRRRLAG 370 380 390 400 410 420 PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL LLQRLQEEKD RDRDADQESN 430 440 450 460 470 480 ISGPLAGRAG QSKISEPGAP RSCIRIRARF PAPPAPPAPP PRGPKRKLYS AVPGRKFIAV 490 500 510 520 530 540 KAHSPQGEGE IPLHRGEAVK VLSIGEGGFW EGTVKGRTGW FPADCVEEVQ MRQHDTRPET 550 560 570 580 590 600 REDRTKRLFR HYTVGSYDSL TSHSDYVIDD KVAVLQKRDH EGFGFVLRGA KAETPIEEFT 610 620 630 640 650 660 PTPAFPALQY LESVDVEGVA WRAGLRTGDF LIEVNGVNVV KVGHKQVVAL IRQGGNRLVM 670 680 690 700 710 720 KVVSVTRKPE EDGARRRAPP PPKRAPSTTL TLRSKSMTAE LEELASIRRR KGEKLDEMLA 730 740 750 760 770 780 AAAEPTLRPD IADADSRAAT VKQRPTSRRI TPAEISSLFE RQGLPGPEKL PGSLRKGIPR 790 800 810 820 830 840 TKSVGEDEKL ASLLEGRFPR STSMQDPVRE GRGIPPPPQT APPPPPAPYY FDSGPPPAFS 850 860 870 880 890 900 PPPPPGRAYD TVRSSFKPGL EARLGAGAAG LYEPGAALGP LPYPERQKRA RSMIILQDSA 910 920 930 940 950 960 PESGDAPRPP PAATPPERPK RRPRPPGPDS PYANLGAFSA SLFAPSKPQR RKSPLVKQLQ 970 980 990 1000 1010 1020 VEDAQERAAL AVGSPGPGGG SFAREPSPTH RGPRPGGLDY GAGDGPGLAF GGPGPAKDRR 1030 1040 1050 1060 1070 1080 LEERRRSTVF LSVGAIEGSA PGADLPSLQP SRSIDERLLG TGPTAGRDLL LPSPVSALKP 1090 1100 1110 1120 1130 1140 LVSGPSLGPS GSTFIHPLTG KPLDPSSPLA LALAARERAL ASQAPSRSPT PVHSPDADRP 1150 1160 1170 1180 1190 1200 GPLFVDVQAR DPERGSLASP AFSPRSPAWI PVPARREAEK VPREERKSPE DKKSMILSVL 1210 1220 1230 1240 1250 1260 DTSLQRPAGL IVVHATSNGQ EPSRLGGAEE ERPGTPELAP APMQSAAVAE PLPSPRAQPP 1270 1280 1290 1300 1310 1320 GGTPADAGPG QGSSEEEPEL VFAVNLPPAQ LSSSDEETRE ELARIGLVPP PEEFANGVLL 1330 1340 1350 1360 1370 1380 ATPLAGPGPS PTTVPSPASG KPSSEPPPAP ESAADSGVEE ADTRSSSDPH LETTSTISTV 1390 1400 1410 1420 1430 1440 SSMSTLSSES GELTDTHTSF ADGHTFLLEK PPVPPKPKLK SPLGKGPVTF RDPLLKQSSD 1450 1460 1470 1480 1490 1500 SELMAQQHHA ASAGLASAAG PARPRYLFQR RSKLWGDPVE SRGLPGPEDD KPTVISELSS 1510 1520 1530 1540 1550 1560 RLQQLNKDTR SLGEEPVGGL GSLLDPAKKS PIAAARCRSP MVGLRLFSSL GELSSISAQR 1570 1580 1590 1600 1610 1620 SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP FGLTPPTILK 1630 1640 1650 1660 1670 1680 SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG PGAPGPRRPF QQKPLQLWSK 1690 1700 1710 1720 1730 1740 FDVGDWLESI HLGEHRDRFE DHEIEGAHLP ALTKDDFVEL GVTRVGHRMN IERALRQLDG S
	Isoform 2. Checksum: E12CDA1DC84A9326	FASTA	1,732	185,295
	10 20 30 40 50 60 MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA LNYGLFQPPS 70 80 90 100 110 120 RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN LIDDKQFAKL HTKANLKKFM 130 140 150 160 170 180 DYVQLHSTDK VARLLDKGLD PNFHDPDSGE CPLSLAAQLD NATDLLKVLK NGGAHLDFRT 190 200 210 220 230 240 RDGLTAVHCA TRQRNAAALT TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH 250 260 270 280 290 300 AQLGITDENG WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 310 320 330 340 350 360 VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP SYAKRRRLAG 370 380 390 400 410 420 PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL LLQRLQEEKD RDRDADQESN 430 440 450 460 470 480 ISGPLAGRAG QSKISEPGAP RSCIRIRARF PAPPAPPAPP PRGPKRKLYS AVPGRKFIAV 490 500 510 520 530 540 KAHSPQGEGE IPLHRGEAVK VLSIGEGGFW EGTVKGRTGW FPADCVEEVQ MRQHDTRPET 550 560 570 580 590 600 REDRTKRLFR HYTVGSYDSL TSHSDYVIDD KVAVLQKRDH EGFGFVLRGA KAETPIEEFT 610 620 630 640 650 660 PTPAFPALQY LESVDVEGVA WRAGLRTGDF LIEVNGVNVV KVGHKQVVAL IRQGGNRLVM 670 680 690 700 710 720 KVVSVTRKPE EDGARRRAPP PPKRAPSTTL TLRSKSMTAE LEELASIRRR KGEKLDEMLA 730 740 750 760 770 780 AAAEPTLRPD IADADSRAAT VKQRPTSRRI TPAEISSLFE RQGLPGPEKL PGSLRKGIPR 790 800 810 820 830 840 TKSVGEDEKL ASLLEGRFPR STSMQDPVRE GRGIPPPPQT APPPPPAPYY FDSGPPPAFS 850 860 870 880 890 900 PPPPPGRAYD TVRSSFKPGL EARLGAGAAG LYEPGAALGP LPYPERQKRA RSMIILQDSA 910 920 930 940 950 960 PESGDAPRPP PAATPPERPK RRPRPPGPDS PYANLGAFSA SLFAPSKPQR RKSPLVKQLQ 970 980 990 1000 1010 1020 VEDAQERAAL AVGSPGPGGG SFAREPSPTH RGPRPGGLDY GAGDGPGLAF GGPGPAKDRR 1030 1040 1050 1060 1070 1080 LEERRRSTVF LSVGAIEGSA PGADLPSLQP SRSIDERLLG TGPTAGRDLL LPSPVSALKP 1090 1100 1110 1120 1130 1140 LVSGPSLGPS GSTFIHPLTG KPLDPSSPLA LALAARERAL ASQAPSRSPT PVHSPDADRP 1150 1160 1170 1180 1190 1200 GPLFVDVQAR DPERGSLASP AFSPRSPAWI PVPARREAEK VPREERKSPE DKKSMILSVL 1210 1220 1230 1240 1250 1260 DTSLQRPAGL IVVHATSNGQ EPSRLGGAEE ERPGTPELAP APMQSAAVAE PLPSPRAQPP 1270 1280 1290 1300 1310 1320 GGTPADAGPG QGSSEEEPEL VFAVNLPPAQ LSSSDEETRE ELARIGLVPP PEEFANGVLL 1330 1340 1350 1360 1370 1380 ATPLAGPGPS PTTVPSPASG KPSSEPPPAP ESAADSGVEE ADTRSSSDPH LETTSTISTV 1390 1400 1410 1420 1430 1440 SSMSTLSSES GELTDTHTSF ADGHTFLLEK PPVPPKPKLK SPLGKGPVTF RDPLLKQSSD 1450 1460 1470 1480 1490 1500 SELMAQQHHA ASAGLASAAG PARPRYLFQR RSKLWGDPVE SRGLPGPEDD KPTVISELSS 1510 1520 1530 1540 1550 1560 RLQQLNKDTR SLGEEPVGGL GSLLDPAKKS PIAAARLFSS LGELSSISAQ RSPGGPGGGA 1570 1580 1590 1600 1610 1620 SYSVRPSGRY PVARRAPSPV KPASLERVEG LGAGAGGAGR PFGLTPPTIL KSSSLSIPHE 1630 1640 1650 1660 1670 1680 PKEVRFVVRS VSARSRSPSP SPLPSPASGP GPGAPGPRRP FQQKPLQLWS KFDVGDWLES 1690 1700 1710 1720 1730 IHLGEHRDRF EDHEIEGAHL PALTKDDFVE LGVTRVGHRM NIERALRQLD GS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping." Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O. DNA Res. 8:1-9(2001) [PubMed: 11258795] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 936-1741 (ISOFORM 2).
[3]	"The nucleotide sequence of a long cDNA clone isolated from human spleen." Ohara O., Nagase T., Kikuno R., Okumura K. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 963-1741 (ISOFORM 2). Tissue: Spleen.
[4]	"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome." Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., Zuffardi O. Am. J. Hum. Genet. 69:261-268(2001) [PubMed: 11431708] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH APPL2.
[5]	"The Shank family of scaffold proteins." Sheng M., Kim E. J. Cell Sci. 113:1851-1856(2000) [PubMed: 10806096] [Abstract] Cited for: REVIEW.
[6]	"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: 12504591] [Abstract] Cited for: INTERACTION WITH BAIAP2.
[7]	"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders." Durand C.M., Betancur C., Boeckers T.M., Bockmann J., Chaste P., Fauchereau F., Nygren G., Rastam M., Gillberg I.C., Anckarsaeter H., Sponheim E., Goubran-Botros H., Delorme R., Chabane N., Mouren-Simeoni M.-C., de Mas P., Bieth E., Roge B. , Heron D., Burglen L., Gillberg C., Leboyer M., Bourgeron T. Nat. Genet. 39:25-27(2007) [PubMed: 17173049] [Abstract] Cited for: INVOLVEMENT IN ASD, VARIANTS CYS-12; GLY-198; THR-224 AND CYS-300.
[8]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1159 AND SER-1163, MASS SPECTROMETRY. Tissue: Platelet.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC000050 Genomic DNA. No translation available. AC000036 Genomic DNA. No translation available. AB051437 mRNA. Translation: BAB33320.1. AK074038 mRNA. Translation: BAB84864.1.
IPI	IPI00019794. IPI00847618.
UniGene	Hs.149035
3D structure databases
SMR	Q9BYB0. Positions 731-794.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BYB0. 8 interactions.
PTM databases
PhosphoSite	Q9BYB0.
Proteomic databases
PRIDE	Q9BYB0.
Genome annotation databases
Ensembl	ENSG00000099882. Homo sapiens. [Contig view]
Organism-specific databases
GeneCards	GC22P049402.
H-InvDB	HIX0016621.
HGNC	HGNC:14294. SHANK3.
HPA	HPA003446.
MIM	606230. gene. 606232. phenotype.
Orphanet	48652. Monosomy 22q13.
PharmGKB	PA37866.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9BYB0.
HOVERGEN	Q9BYB0.
Enzyme and pathway databases
Pathway_Interaction_DB	ret_pathway. Signaling events regulated by Ret tyrosine kinase.
Gene expression databases
ArrayExpress	Q9BYB0.
Bgee	Q9BYB0.
CleanEx	HS_SHANK3.
GermOnline	ENSG00000099882. Homo sapiens.
Family and domain databases
InterPro	IPR002110. ANK. IPR001478. PDZ/DHR/GLGF. IPR001660. SAM. IPR013761. SAM_type. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit. G3DSA:1.10.150.50. SAM_type. 1 hit.
Pfam	PF00023. Ank. 5 hits. PF00595. PDZ. 1 hit. PF00536. SAM_1. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view]
ProDom	PD000066. SH3. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00248. ANK. 5 hits. SM00228. PDZ. 1 hit. SM00454. SAM. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
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. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

SHAN3_HUMAN

Accession

Primary (citable) accession number: Q9BYB0
Secondary accession number(s): Q8TET3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 26, 2002
Last sequence update:	June 12, 2007
Last modified:	June 16, 2009
This is version 61 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)