Type | Description |
---|---|
Definition | crumbs cell polarity complex component 1 |
Date | Results | Publications |
---|---|---|
2021-04-17 13:14:00 | Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. | 33342761 |
2021-02-06 13:56:00 | DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. | 29200130 |
2020-05-02 12:16:00 | Data show that crumbs homolog 2 protein (CRB2) protein precedes the expression of crumbs homologue 1 protein (CRB1) in the developing retina. | 30956116 |
2020-04-04 12:20:00 | Mutation in the CRB1 gene is associated with X-linked retinoschisis. | 30608181 |
2020-01-18 10:58:00 | This study reported two CRB1 mutations causing autosomal recessive retinitis pigmentosa (arRP) in two Chinese families, which expands the CRB1 mutation spectrum of RP in the Chinese population and emphasizes the causative role of CRB1 in RP. | 31322236 |
Type | IDs |
---|---|
Synonymous | LCA8, RP12 |
Gene |
UniProtKB-ID:
CRUM1_HUMAN,
A8K118_HUMAN,
F5H0L2_HUMAN,
B7Z826_HUMAN,
B7Z824_HUMAN
UniprotKB:
P82279,
A8K118,
F5H0L2,
B7Z826,
B7Z824
UniParc:
UPI00015DA5E8,
UPI0001914E87,
UPI00004B2BCD,
UPI0000001049,
UPI0002065031,
UPI0000551C70,
UPI00019150FA,
UPI0000073345,
UPI00019150FC
EMBL:
BX640729,
AF154671,
AY043325,
AK289733,
AL139136,
AL136322,
CH471067,
BC136271,
AY043323,
AK302826,
AL513325,
AK299368,
AJ748821,
AY043324,
AL356315,
AK302818
Ensembl:
ENSG00000134376
KO:
hsa:23418
|
Nucleutide sequences |
EMBL-CDS:
EAW91277.1,
BAH13018.1,
AAL10682.1,
AAL10681.1,
AAI36272.1,
CAG38658.1,
CAE45845.1,
AAF01361.1,
AAL10680.1,
BAF82422.1,
BAH13812.1,
BAH13810.1
Ensembl_TRS:
ENST00000484075,
ENST00000367399,
ENST00000538660,
ENST00000638467,
ENST00000367400,
ENST00000535699
|
Protein sequencees |
Ensembl_PRO:
ENSP00000356369,
ENSP00000433932,
ENSP00000438091,
ENSP00000356370,
ENSP00000491102,
ENSP00000438786
RefSeq:
XP_011507667.1,
XP_011507669.1,
NP_957705.1,
XP_016856341.1,
XP_016856340.1,
NP_001244895.1,
XP_011507671.1,
NP_001244894.1,
NP_001180569.1
|
Others |
UniRef100:
UniRef100_B7Z826,
UniRef100_P82279,
UniRef100_A8K118,
UniRef100_F5H0L2
UniRef90:
UniRef90_A0A2K6R3I6,
UniRef90_P82279
UniRef50:
UniRef50_P82279
UniGene:
Hs.126135
CCDS:
CCDS1390.1,
CCDS58052.1,
CCDS53454.1
|
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Refseq |
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