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General Information about the Entry |
| Entry name |
UniProt:CRYAB_HUMAN |
| Prim. accession # |
P02511 |
| Sec. accession # |
O43416; |
| Created |
Release 1, 21-JUL-1986 |
| Last sequence update |
Release 13, 1-JAN-1990 |
| Last annotation update |
Release 47, 10-MAY-2005 |
|
Description and Origin of the Protein |
| Keywords |
Acetylation; Cataract; Desmin-related myopathy; Direct protein sequencing; Disease mutation; Eye lens protein; Glycoprotein; Phosphorylation; Polymorphism; |
| Description |
alpha crystallin b chain (alpha(b)-crystallin) (rosenthal fiber
component) (heat-shock protein beta-5) (hspb5).
|
| Gene name(s) |
name=cryab; synonyms=crya2;
|
| Organism source |
Homo sapiens (Human).
|
| Organism classification |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
Homo.
|
| NCBI Taxonomy ID |
9606; |
|
References |
| 1. |
Kramps,J.A.; de Man,B.M.; de Jong,W.W.; The primary structure of the B2 chain of human alpha-crystallin. FEBS Lett. 74:82 (1977) |
| Medline |
77116204 |
| PubMed |
838078 |
| Digital Object Id |
10.1016/0014-5793(77)80757-6 |
| Position |
preliminary protein sequence.
|
| 2. |
Dubin,R.A.; Ally,A.H.; Chung,S.; Piatigorsky,J.; Human alpha B-crystallin gene and preferential promoter function in
lens. Genomics 7:594 (1990) |
| Medline |
90353958 |
| PubMed |
2387586 |
| Position |
nucleotide sequence.
|
| 3. |
Iwaki,A.; Iwaki,T.; Goldman,J.E.; Ogomori,K.; Tateishi,J.; Sakaki,Y.; Accumulation of alpha B-crystallin in brains of patients with
Alexander's disease is not due to an abnormality of the 5'-flanking
and coding sequence of the genomic DNA. Neurosci. Lett. 140:89 (1992) |
| Medline |
93025869 |
| PubMed |
1407707 |
| Digital Object Id |
10.1016/0304-3940(92)90689-5 |
| Position |
nucleotide sequence.
|
| 4. |
Yu,W.; Sarginson,J.; Gibbs,R.A.; Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases.
|
| Position |
nucleotide sequence.
|
| 5. |
Kalnine,N.; Chen,X.; Rolfs,A.; Halleck,A.; Hines,L.; Eisenstein,S.; Koundinya,M.; Raphael,J.; Moreira,D.; Kelley,T.; LaBaer,J.; Lin,Y.; Phelan,M.; Farmer,A.; Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
|
| Position |
nucleotide sequence [large scale mrna].
|
| 6. |
Strausberg,R.L.; Feingold,E.A.; Grouse,L.H.; Derge,J.G.; Klausner,R.D.; Collins,F.S.; Wagner,L.; Shenmen,C.M.; Schuler,G.D.; Altschul,S.F.; Zeeberg,B.; Buetow,K.H.; Schaefer,C.F.; Bhat,N.K.; Hopkins,R.F.; Jordan,H.; Moore,T.; Max,S.I.; Wang,J.; Hsieh,F.; Diatchenko,L.; Marusina,K.; Farmer,A.A.; Rubin,G.M.; Hong,L.; Stapleton,M.; Soares,M.B.; Bonaldo,M.F.; Casavant,T.L.; Scheetz,T.E.; Brownstein,M.J.; Usdin,T.B.; Toshiyuki,S.; Carninci,P.; Prange,C.; Raha,S.S.; Loquellano,N.A.; Peters,G.J.; Abramson,R.D.; Mullahy,S.J.; Bosak,S.A.; McEwan,P.J.; McKernan,K.J.; Malek,J.A.; Gunaratne,P.H.; Richards,S.; Worley,K.C.; Hale,S.; Garcia,A.M.; Gay,L.J.; Hulyk,S.W.; Villalon,D.K.; Muzny,D.M.; Sodergren,E.J.; Lu,X.; Gibbs,R.A.; Fahey,J.; Helton,E.; Ketteman,M.; Madan,A.; Rodrigues,S.; Sanchez,A.; Whiting,M.; Madan,A.; Young,A.C.; Shevchenko,Y.; Bouffard,G.G.; Blakesley,R.W.; Touchman,J.W.; Green,E.D.; Dickson,M.C.; Rodriguez,A.C.; Grimwood,J.; Schmutz,J.; Myers,R.M.; Butterfield,Y.S.N.; Krzywinski,M.I.; Skalska,U.; Smailus,D.E.; Schnerch,A.; Schein,J.E.; Jones,S.J.M.; Marra,M.A.; Generation and initial analysis of more than 15,000 full-length human
and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 99:16899 (2002) |
| Medline |
22388257 |
| PubMed |
12477932 |
| Digital Object Id |
10.1073/pnas.242603899 |
| Position |
nucleotide sequence [large scale mrna].
|
| Comment |
tissue=heart;
|
| 7. |
Iwaki,T.; Kume-Iwaki,A.; Liem,R.K.H.; Goldman,J.E.; Alpha B-crystallin is expressed in non-lenticular tissues and
accumulates in Alexander's disease brain. Cell 57:71 (1989) |
| Medline |
89195224 |
| PubMed |
2539261 |
| Digital Object Id |
10.1016/0092-8674(89)90173-6 |
| Position |
nucleotide sequence of 107-175.
|
| 8. |
Kovalyov,L.I.; Shishkin,S.S.; Efimochkin,A.S.; Kovalyova,M.A.; Ershova,E.S.; Egorov,T.A.; Musalyamov,A.K.; The major protein expression profile and two-dimensional protein
database of human heart. Electrophoresis 16:1160 (1995) |
| Medline |
96007936 |
| PubMed |
7498159 |
| Position |
protein sequence of 83-89 and 164-172.
|
| Comment |
tissue=heart;
|
| 9. |
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 (1997) |
| Medline |
97152999 |
| PubMed |
8999933 |
| Digital Object Id |
10.1074/jbc.272.4.2268 |
| Position |
protein sequence of 57-66.
|
| 10. |
Fujii,N.; Ishibashi,Y.; Satoh,K.; Fujino,M.; Harada,K.; Simultaneous racemization and isomerization at specific aspartic acid
residues in alpha B-crystallin from the aged human lens. Biochim. Biophys. Acta 1204:157 (1994) |
| Medline |
94190996 |
| PubMed |
8142454 |
| Digital Object Id |
10.1016/0167-4838(94)90003-5 |
| Position |
racemization and isomerization of specific asp.
|
| 11. |
Kato,K.; Inaguma,Y.; Ito,H.; Iida,K.; Iwamoto,I.; Kamei,K.; Ochi,N.; Ohta,H.; Kishikawa,M.; Ser-59 is the major phosphorylation site in alphaB-crystallin
accumulated in the brains of patients with Alexander's disease. J. Neurochem. 76:730 (2001) |
| Medline |
21103870 |
| PubMed |
11158243 |
| Position |
phosphorylation sites ser-45 and ser-59.
|
| 12. |
Selcen,D.; Engel,A.G.; Myofibrillar myopathy caused by novel dominant negative alpha B-
crystallin mutations. Ann. Neurol. 54:804 (2003) |
| PubMed |
14681890 |
| Digital Object Id |
10.1002/ana.10767 |
| Position |
involvement in alpha-b crystallinopathy.
|
| 13. |
Vicart,P.; Caron,A.; Guicheney,P.; Li,Z.; Prevost,M.-C.; Faure,A.; Chateau,D.; Chapon,F.; Tome,F.; Dupret,J.-M.; Paulin,D.; Fardeau,M.; A missense mutation in the alphaB-crystallin chaperone gene causes a
desmin-related myopathy. Nat. Genet. 20:92 (1998) |
| Medline |
98400266 |
| PubMed |
9731540 |
| Digital Object Id |
10.1038/1765 |
| Position |
variant alpha-b crystallinopathy gly-120.
|
| 14. |
Fu,L.; Liang,J.J.; Alteration of protein-protein interactions of congenital cataract
crystallin mutants. Invest. Ophthalmol. Vis. Sci. 44:1155 (2003) |
| PubMed |
12601044 |
| Position |
caracterization of variants alpha-b crystallinopathy gly-120.
|
|
Comments |
| function |
May contribute to the transparency and refractive index
of the lens.
|
| subunit |
Aggregates with homologous proteins, including CRYAA and
the small heat shock protein HSP28, to form large heteromeric
complexes.
|
| tissue specificity |
Lens as well as other tissues.
|
| disease |
Seen as Rosenthal fiber protein in the brain tissue of
patients with Alexander disease [MIM:203450].
|
| disease |
Defects in CRYAB are the cause of alpha-B
crystallinopathy [MIM:608810]. Alpha-B crystallinopathy is a an
autosomal dominant form of desmin-related myopathy (DRM) that
results in weakness of the proximal and distal limb muscle
(including neck, velopharynx, and trunk muscles), signs of
cardiomyopathy and cataract. Patients with progressive myopathy
characterized by myofibrillar degeneration that commences at the
Z-disk, have been described. Mutations truncate the essential C-
terminal domain of the protein required for the chaperone
function.
|
| similarity |
Belongs to the small heat shock protein (HSP20)
family.
|
|
Database Cross-references |
| EMBL |
M28638; AAA52104.1; -; Genomic_DNA.
S45630; AAB23453.1; -; mRNA.
AF007162; AAC19161.1; -; mRNA.
BT006770; AAP35416.1; -; mRNA.
BC007008; AAH07008.1; -; mRNA.
M24906; AAA60267.1; -; mRNA.
|
| PIR |
A35332; CYHUAB.
|
| GlycoSuiteDB |
P02511; -.
|
| SWISS-2DPAGE |
P02511; HUMAN.
|
| HSC-2DPAGE |
P02511; HUMAN.
|
| Ensembl |
ENSG00000109846; Homo sapiens.
|
| Genew |
HGNC:2389; CRYAB.
|
| H-InvDB |
HIX0010115; -.
|
| MIM |
123590; -.
203450; -.
608810; -.
|
| GO |
GO:0006936; P:muscle contraction; TAS.
GO:0006457; P:protein folding; NAS.
|
| InterPro |
IPR001436; Crystallin_alpha.
IPR003090; Crystallin_N.
IPR002068; Hsp20.
IPR008978; HSP20_chap.
|
| Pfam |
PF00525; Crystallin; 1.
PF00011; HSP20; 1.
|
| PIRSF |
PIRSF002280; Alpha-crystallin; 1.
|
| PRINTS |
PR00299; ACRYSTALLIN.
|
| ProDom |
PD001193; Crystallin_N; 1.
|
| PROSITE |
PS01031; HSP20; 1.
|
|
Features |
|
|
 |
|
|
|
| Key |
Begin |
End |
Length |
Description |
|
mod_res
|
1 |
1 |
1 |
n-acetylmethionine (probable). |
|
mod_res
|
19 |
19 |
1 |
phosphoserine (by similarity). |
|
mod_res
|
45 |
45 |
1 |
phosphoserine. |
|
mod_res
|
59 |
59 |
1 |
phosphoserine. |
|
carbohyd
|
170 |
170 |
1 |
o-linked (glcnac) (by similarity). |
|
variant
|
41 |
41 |
1 |
s -> y (in dbsnp:2234703). /ftid=var_014607. |
|
variant
|
51 |
51 |
1 |
p -> l (in dbsnp:2234704). /ftid=var_014608. |
|
variant
|
120 |
120 |
1 |
r -> g (in alpha-b crystallinopathy; decreased interactions with wildtype cryaa and cryab but increased interactions with wildtype crybb2 and crygc). /ftid=var_007899. |
|
conflict
|
165 |
165 |
1 |
e -> k (in ref. 4). |
|
conflict
|
175 |
175 |
1 |
k -> kkmpflelhflkqesfptse (in ref. 4). |
|
Sequence information |
| Characteristics |
Length: 175 aa, molecular weight: 20159 Da, CRC64 check sum: AE08BED46B7849CB |
| |
MDIAIHHPWI RRPFFPFHSP SRLFDQFFGE HLLESDLFPT STSLSPFYLR PPSFLRAPSW 60
FDTGLSEMRL EKDRFSVNLD VKHFSPEELK VKVLGDVIEV HGKHEERQDE HGFISREFHR 120
KYRIPADVDP LTITSSLSSD GVLTVNGPRK QVSGPERTIP ITREEKPAVT AAPKK 175
//
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