Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 6T1R | 9.8 | Pseudo-atomic model of a 16-mer assembly of reduced recombinant human alphaA-crystallin (non domain swapped configuration) |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0002088 | lens development in camera-type eye |
| Biological Process | GO:0043066 | negative regulation of apoptotic process |
| Biological Process | GO:0032387 | negative regulation of intracellular transport |
| Biological Process | GO:0050821 | protein stabilization |
| Biological Process | GO:0050896 | response to stimulus |
| Biological Process | GO:0007601 | visual perception |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0005212 | structural constituent of eye lens |
| Molecular Function | GO:0005198 | structural molecule activity |
| Molecular Function | GO:0051082 | unfolded protein binding |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0032991 | protein-containing complex |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:14512969 |
| Cytoplasm | ECO:0000269 | PubMed:19464326 |
| Cytoplasm | ECO:0000269 | PubMed:19503744 |
| Cytoplasm | ECO:0000269 | PubMed:26004348 |
| Cytoplasm | ECO:0000269 | PubMed:30340470 |
| Nucleus | ECO:0000269 | PubMed:19464326 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000482 | Microcornea |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000545 | Myopia |
| HP:0000568 | Microphthalmia |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0000646 | Amblyopia |
| HP:0001131 | Corneal dystrophy |
| HP:0007834 | Progressive cataract |
| HP:0007957 | Corneal opacity |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| eye | lens fiber cells | Medium | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| cataract 9 multiple types | MONDO:0011413 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:604219 | Orphanet:1377 |
| cataract 9 multiple types | MONDO:0011413 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:604219 | Orphanet:91492 |
| cataract 9 multiple types | MONDO:0011413 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:604219 | Orphanet:98991 |
| cataract 9 multiple types | MONDO:0011413 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:604219 | Orphanet:98995 |
| cataract - microcornea syndrome | MONDO:0015300 | Q13 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:1377 | |
| early-onset lamellar cataract | MONDO:0018611 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:441452 | |
| early-onset anterior polar cataract | MONDO:0020373 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98988 | |
| early-onset nuclear cataract | MONDO:0020376 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98991 | |
| total early-onset cataract | MONDO:0021548 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98994 |