| Type | Description |
|---|---|
| Definition | beaded filament structural protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-11 14:02:00 | The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. | 28935373 |
| 2014-07-26 12:45:00 | A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. | 24379646 |
| 2014-07-26 10:33:00 | The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. | 24319337 |
| 2010-01-21 00:00:00 | This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts. | 17225135 |
| Type | IDs |
|---|---|
| Synonymous | CP115, CP94, CTRCT33, LIFL-H |
| Gene |
UniProtKB-ID:
BFSP1_HUMAN,
B7Z999_HUMAN,
B7ZAD2_HUMAN
UniprotKB:
Q12934,
B7Z999,
B7ZAD2
UniParc:
UPI000007458F,
UPI00019153B4,
UPI00001268C7,
UPI0000E0649F,
UPI000191532C
EMBL:
AL031664,
Y16723,
U12622,
Y16718,
AF039655,
AH009849,
AK304673,
Y16717,
AL132765,
Y16719,
BC041483,
AK316247,
Y16720,
Y16722,
Y16721
Ensembl:
ENSG00000125864
KO:
hsa:631
|
| Nucleutide sequences |
EMBL-CDS:
AAG17186.1,
CAA76348.1,
AAB94939.1,
CAA76349.1,
AAA74423.1,
AAH41483.1,
BAH14235.1,
BAH14618.1
Ensembl_TRS:
ENST00000377868,
ENST00000536626,
ENST00000377873
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367099,
ENSP00000367104,
ENSP00000442522
RefSeq:
XP_016883494.1,
NP_001265536.1,
NP_001155177.1,
NP_001186.1,
NP_001265537.1,
NP_001265535.1
|
| Others |
UniRef100:
UniRef100_B7ZAD2,
UniRef100_B7Z999,
UniRef100_Q12934
UniRef90:
UniRef90_Q12934,
UniRef90_A0A2K6UBG8
UniRef50:
UniRef50_Q12934,
UniRef50_A0A1S3WEC1
UniGene:
Hs.129702
CCDS:
CCDS63229.1,
CCDS13126.1,
CCDS54448.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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