[1]
|
PRELIMINARY PROTEIN SEQUENCE.
DOI=10.1016/0014-5793(75)80286-9; PubMed=817940 [NCBI, ExPASy, EBI, Israel, Japan]
de Jong W.W.,
Terwindt E.C.,
Bloemendal H.;
"The amino acid sequence of the A chain of human alpha-crystallin.";
FEBS Lett. 58:310-313(1975).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lens;
DOI=10.1007/BF00173170; PubMed=8587135 [NCBI, ExPASy, EBI, Israel, Japan]
Jaworski C.J.;
"A reassessment of mammalian alpha A-crystallin sequences using DNA sequencing: implications for anthropoid affinities of tarsier.";
J. Mol. Evol. 41:901-908(1995).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lens;
DOI=10.1074/jbc.271.50.31973; PubMed=8943244 [NCBI, ExPASy, EBI, Israel, Japan]
Andley U.P.,
Mathur S.,
Griest T.A.,
Petrash J.M.;
"Cloning, expression, and chaperone-like activity of human alphaA-crystallin.";
J. Biol. Chem. 271:31973-31980(1996).
|
[4]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/35012518; PubMed=10830953 [NCBI, ExPASy, EBI, Israel, Japan]
Hattori M.,
Fujiyama A.,
Taylor T.D.,
Watanabe H.,
Yada T.,
Park H.-S.,
Toyoda A.,
Ishii K.,
Totoki Y.,
Choi D.-K.,
Groner Y.,
Soeda E.,
Ohki M.,
Takagi T.,
Sakaki Y.,
Taudien S.,
Blechschmidt K.,
Polley A.,
Menzel U., ![]()
Delabar J.,
Kumpf K.,
Lehmann R.,
Patterson D.,
Reichwald K.,
Rump A.,
Schillhabel M.,
Schudy A.,
Zimmermann W.,
Rosenthal A.,
Kudoh J.,
Shibuya K.,
Kawasaki K.,
Asakawa S.,
Shintani A.,
Sasaki T.,
Nagamine K.,
Mitsuyama S.,
Antonarakis S.E.,
Minoshima S.,
Shimizu N.,
Nordsiek G.,
Hornischer K.,
Brandt P.,
Scharfe M.,
Schoen O.,
Desario A.,
Reichelt J.,
Kauer G.,
Bloecker H.,
Ramser J.,
Beck A.,
Klages S.,
Hennig S.,
Riesselmann L.,
Dagand E.,
Wehrmeyer S.,
Borzym K.,
Gardiner K.,
Nizetic D.,
Francis F.,
Lehrach H.,
Reinhardt R.,
Yaspo M.-L.;
"The DNA sequence of human chromosome 21.";
Nature 405:311-319(2000).
|
[5]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[6]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-104.
DOI=10.1038/337752a0; PubMed=2918909 [NCBI, ExPASy, EBI, Israel, Japan]
Jaworski C.J.,
Piatigorsky J.;
"A pseudo-exon in the functional human alpha A-crystallin gene.";
Nature 337:752-754(1989).
|
[7]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-63 AND 166-173.
TISSUE=Spleen;
DOI=10.1016/S0014-4835(86)80098-7; PubMed=3758227 [NCBI, ExPASy, EBI, Israel, Japan]
McDevitt D.S.,
Hawkins J.W.,
Jaworski C.J.,
Piatigorsky J.;
"Isolation and partial characterization of the human alpha A-crystallin gene.";
Exp. Eye Res. 43:285-291(1986).
|
[8]
|
PROTEIN SEQUENCE OF 13-21 AND 79-88.
DOI=10.1074/jbc.272.4.2268; PubMed=8999933 [NCBI, ExPASy, EBI, Israel, Japan]
Lampi K.J.,
Ma Z.,
Shih M.,
Shearer T.R.,
Smith J.B.,
Smith D.L.,
David L.L.;
"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.";
J. Biol. Chem. 272:2268-2275(1997).
|
[9]
|
STRUCTURE OF CARBOHYDRATE.
PubMed=1730617 [NCBI, ExPASy, EBI, Israel, Japan]
Roquemore E.P.,
Dell A.,
Morris H.R.,
Panico M.,
Reason A.J.,
Savoy L.-A.,
Wistow G.J.,
Zigler J.S. Jr.,
Earles B.J.,
Hart G.W.;
"Vertebrate lens alpha-crystallins are modified by O-linked N-acetylglucosamine.";
J. Biol. Chem. 267:555-563(1992).
|
[10]
|
PHOSPHORYLATION AT SER-122, DISULFIDE BOND, PROTEOLYTIC PROCESSING OF C-TERMINAL, DEAMIDATION AT ASN-101, AND MASS SPECTROMETRY.
PubMed=8175657 [NCBI, ExPASy, EBI, Israel, Japan]
Miesbauer L.R.,
Zhou X.,
Yang Z.,
Yang Z.,
Sun Y.,
Smith D.L.,
Smith J.B.;
"Post-translational modifications of water-soluble human lens crystallins from young adults.";
J. Biol. Chem. 269:12494-12502(1994).
|
[11]
|
PHOSPHORYLATION AT SER-122.
DOI=10.1006/exer.1996.0060; PubMed=8759518 [NCBI, ExPASy, EBI, Israel, Japan]
Takemoto L.J.;
"Differential phosphorylation of alpha-A crystallin in human lens of different age.";
Exp. Eye Res. 62:499-504(1996).
|
[12]
|
DEAMIDATION AT ASN-101.
DOI=10.1076/ceyr.17.3.247.5218; PubMed=9543632 [NCBI, ExPASy, EBI, Israel, Japan]
Takemoto L.J.;
"Quantitation of asparagine-101 deamidation from alpha-A crystallin during aging of the human lens.";
Curr. Eye Res. 17:247-250(1998).
|
[13]
|
PROTEOLYTIC PROCESSING OF C-TERMINAL, ACETYLATION AT LYS-70, PHOSPHORYLATION, DEAMIDATION AT ASN-101, AND MASS SPECTROMETRY.
PubMed=9655350 [NCBI, ExPASy, EBI, Israel, Japan]
Lin P.P.,
Barry R.C.,
Smith D.L.,
Smith J.B.;
"In vivo acetylation identified at lysine 70 of human lens alphaA-crystallin.";
Protein Sci. 7:1451-1457(1998).
|
[14]
|
PHOSPHORYLATION, SUSCEPTIBILITY TO OXIDATION, PROTEOLYTIC PROCESSING OF C-TERMINAL, AND MASS SPECTROMETRY.
DOI=10.1006/exer.2000.0868; PubMed=10930324 [NCBI, ExPASy, EBI, Israel, Japan]
Hanson S.R.A.,
Hasan A.,
Smith D.L.,
Smith J.B.;
"The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.";
Exp. Eye Res. 71:195-207(2000).
|
[15]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-13; SER-45; SER-122 AND THR-140, ACETYLATION AT LYS-70; LYS-78; LYS-88 AND LYS-145, METHYLATION AT ARG-21 AND LYS-88, SUSCEPTIBILITY TO OXIDATION, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.122231399; PubMed=12060738 [NCBI, ExPASy, EBI, Israel, Japan]
MacCoss M.J.,
McDonald W.H.,
Saraf A.,
Sadygov R.,
Clark J.M.,
Tasto J.J.,
Gould K.L.,
Wolters D.,
Washburn M.,
Weiss A.,
Clark J.I.,
Yates J.R. III;
"Shotgun identification of protein modifications from protein complexes and lens tissue.";
Proc. Natl. Acad. Sci. U.S.A. 99:7900-7905(2002).
|
[16]
|
VARIANT ZONULAR CENTRAL NUCLEAR CATARACT CYS-116.
DOI=10.1093/hmg/7.3.471; PubMed=9467006 [NCBI, ExPASy, EBI, Israel, Japan]
Litt M.,
Kramer P.,
la Morticella D.M.,
Murphey W.,
Lovrien E.W.,
Weleber R.G.;
"Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.";
Hum. Mol. Genet. 7:471-474(1998).
|
[17]
|
CHARACTERIZATION OF VARIANT ZONULAR CENTRAL NUCLEAR CATARACT CYS-116.
DOI=10.1021/bi001453j; PubMed=11123904 [NCBI, ExPASy, EBI, Israel, Japan]
Cobb B.A.,
Petrash J.M.;
"Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.";
Biochemistry 39:15791-15798(2000).
|
[18]
|
VARIANT NUCLEAR CATARACT CYS-49.
DOI=10.1038/sj.ejhg.5201046; PubMed=14512969 [NCBI, ExPASy, EBI, Israel, Japan]
Mackay D.S.,
Andley U.P.,
Shiels A.;
"Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.";
Eur. J. Hum. Genet. 11:784-793(2003).
|
[19]
|
VARIANT CONGENITAL CATARACT LEU-21.
DOI=10.1007/s00417-005-0234-x; PubMed=16453125 [NCBI, ExPASy, EBI, Israel, Japan]
Graw J.,
Klopp N.,
Illig T.,
Preising M.N.,
Lorenz B.;
"Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.";
Graefes Arch. Clin. Exp. Ophthalmol. 244:912-919(2006).
|
[20]
|
VARIANT [LARGE SCALE ANALYSIS] HIS-105.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
|
[21]
|
VARIANT CONGENITAL CATARACT HIS-116, AND CHARACTERIZATION OF VARIANT CONGENITAL CATARACT HIS-116.
DOI=10.1002/humu.20724; PubMed=18407550 [NCBI, ExPASy, EBI, Israel, Japan]
Gu F.,
Luo W.,
Li X.,
Wang Z.,
Lu S.,
Zhang M.,
Zhao B.,
Zhu S.,
Feng S.,
Yan Y.-B.,
Huang S.,
Ma X.;
"A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.";
Hum. Mutat. 29:769-769(2008).
|
|
ExPASy Home page
SIB Switzerland
