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23418 CRB1

23418

CRB1

crumbs cell polarity complex component 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition crumbs cell polarity complex component 1

研究结论

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

名称对应

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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