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9378 NRXN1

9378

NRXN1

neurexin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition neurexin 1

研究结论

Date Results Publications
2021-02-06 13:56:00 Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. 30873608
2020-10-10 12:58:00 A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. 30988517
2020-06-20 10:15:00 Bi-allelic NRXN1-alpha deletion is associated with impaired neuronal functionality. 31302032
2020-04-18 12:54:00 NRXN1-the first mutation, cytosine was replaced by thymine at position 1405 (c.1405C>T), presumably causing the replacement of proline by serine at P 469 (p.Pro469Ser) [rs7850316]; the second mutation, adenine was replaced by guanine at position 4053 (c.4053A>G), resulting in the replacement of alanine by alanine at the 1351 position (p.Ala1351Ala) [rs7997075]. Father was found carrier for c.1405C>T variant (p.Pro469Ser) 28343708
2020-04-04 10:38:00 Mutations in NRXN1 (c.2686C>T, p.Arg896Trp) and NRXN2 (c.3176G>A, p.Arg1059Gln) were found in a patient with early-onset epileptic encephalopathy and respiratory depression. 30709877

名称对应

Type IDs
Synonymous Hs.22998, PTHSL2, SCZD17
Gene
UniProtKB-ID: NRX1B_HUMAN, NRX1A_HUMAN, E7EQN4_HUMAN, A0A0D9SEQ7_HUMAN, A0A1D5RMU6_HUMAN, H7BYC7_HUMAN, A0A0D9SEM5_HUMAN, H0Y568_HUMAN, E7ERL8_HUMAN
UniprotKB: P58400, Q9ULB1, E7EQN4, A0A0D9SEQ7, A0A1D5RMU6, H7BYC7, A0A0D9SEM5, H0Y568, E7ERL8
UniParc: UPI000053E942, UPI00029DBCAE, UPI0005C1226A, UPI0000D6CC75, UPI000173A4FD, UPI00005A7E22, UPI0005C1219A, UPI0001D3BDA0, UPI00005A60C2, UPI0005C12190, UPI000013D941, UPI0000130A9D, UPI00015A218A
EMBL: AC068725, BX647616, AF064842, AC068715, AB035356, AC069550, AC009234, AC078994, AC007462, AC010721, AC007682, AB011150, EF539882, AC007680, AC007560
Ensembl: ENSG00000179915
KO: hsa:9378
Nucleutide sequences
EMBL-CDS: BAA25504.2, AAG38120.1, BAA87821.1, ABS86974.1, AAY14894.1, AAK06387.1, CAI46085.1, AAG59602.1, AAF03536.1, AAY14944.1, AAG59642.1
Ensembl_TRS: ENST00000342183, ENST00000401710, ENST00000625672, ENST00000406316, ENST00000404971, ENST00000405581, ENST00000626899, ENST00000630543, ENST00000378262, ENST00000628364, ENST00000412315, ENST00000401669
Protein sequencees
Ensembl_PRO: ENSP00000341184, ENSP00000385580, ENSP00000385142, ENSP00000384311, ENSP00000485887, ENSP00000385310, ENSP00000485912, ENSP00000486879, ENSP00000367510, ENSP00000485815, ENSP00000396738, ENSP00000385017
RefSeq: NP_001317017.1, NP_001317010.1, NP_001317024.1, NP_001317015.1, NP_001317008.1, NP_001317021.1, NP_001317026.1, NP_001317020.1, NP_001317018.1, NP_001317025.1, NP_001317023.1, NP_001307086.1, NP_001317012.1, NP_620072.1, NP_001317007.1, NP_001317013.1, NP_001317019.1, NP_001317006.1, NP_001317011.1, NP_001129131.1, NP_001307085.1, NP_001317016.1, NP_001317022.1, NP_004792.1, NP_001317014.1
Others
UniRef100: UniRef100_A0A1D5RMU6, UniRef100_H7BYC7, UniRef100_P58400, UniRef100_E7ERL8, UniRef100_Q9ULB1, UniRef100_A0A0D9SEM5, UniRef100_H0Y568, UniRef100_A0A0D9SEQ7, UniRef100_E7EQN4
UniRef90: UniRef90_Q9CS84, UniRef90_A0A1D5QP55, UniRef90_Q28142-2, UniRef90_E7EQN4, UniRef90_A0A2K6FGI9, UniRef90_A0A0D9SEQ7, UniRef90_Q9ULB1, UniRef90_P0DI97
UniRef50: UniRef50_F6XEN8, UniRef50_Q63373-3, UniRef50_Q9ULB1, UniRef50_E7EQN4, UniRef50_P0DI97, UniRef50_A0A2K6FGI9, UniRef50_Q9CS84
UniGene: Hs.637685
CCDS: CCDS1845.1, CCDS82446.1, CCDS82445.1, CCDS82450.1, CCDS46282.1, CCDS54360.1

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