[1]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/990031; PubMed=10591208 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 936-1741 (ISOFORM 2).
DOI=10.1093/dnares/8.1.1; PubMed=11258795 [NCBI, ExPASy, EBI, Israel, Japan]
Hirosawa M.,
Nagase T.,
Murahashi Y.,
Kikuno R.,
Ohara O.;
"Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.";
DNA Res. 8:1-9(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 963-1741 (ISOFORM 2).
TISSUE=Spleen;
Ohara O.,
Nagase T.,
Kikuno R.,
Okumura K.;
"The nucleotide sequence of a long cDNA clone isolated from human spleen.";
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
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[4]
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CHROMOSOMAL TRANSLOCATION WITH APPL2.
DOI=10.1086/321293; PubMed=11431708 [NCBI, ExPASy, EBI, Israel, Japan]
Bonaglia M.C.,
Giorda R.,
Borgatti R.,
Felisari G.,
Gagliardi C.,
Selicorni A.,
Zuffardi O.;
"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.";
Am. J. Hum. Genet. 69:261-268(2001).
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[5]
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REVIEW.
PubMed=10806096 [NCBI, ExPASy, EBI, Israel, Japan]
Sheng M.,
Kim E.;
"The Shank family of scaffold proteins.";
J. Cell Sci. 113:1851-1856(2000).
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[6]
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INTERACTION WITH BAIAP2.
DOI=10.1006/mcne.2002.1201; PubMed=12504591 [NCBI, ExPASy, EBI, Israel, Japan]
Soltau M.,
Richter D.,
Kreienkamp H.-J.;
"The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42.";
Mol. Cell. Neurosci. 21:575-583(2002).
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[7]
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INVOLVEMENT IN ASD, AND VARIANTS CYS-12; GLY-198; THR-224 AND CYS-300.
DOI=10.1038/ng1933; PubMed=17173049 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.";
Nat. Genet. 39:25-27(2007).
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[8]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1159 AND SER-1163, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P.,
Lewandrowski U.,
Wiesner J.,
Wortelkamp S.,
Moebius J.,
Schuetz C.,
Walter U.,
Gambaryan S.,
Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
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