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123606 NIPA1

123606

NIPA1

NIPA magnesium transporter 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NIPA magnesium transporter 1

研究结论

Date Results Publications
2020-05-02 11:52:00 No role of NIPA1 repeat length as a modifier of the C9orf72 ALS disease risk. 31286297
2019-11-30 12:26:00 There is an evidence for an association of an expanded polyalanine repeat in NIPA1 and ALS. 30342764
2018-10-13 12:18:00 we employed an shRNA-encoding lentivirus system to inhibit SPG6 expression in AML cells including NB4 and MV4-11cells. Knockdown expression of SPG6 resulted in decreased cell growth and elevated apoptosis of these leukemia cells. Notably, SPG6 deficiency resulted in higher BMPR2 expression indicating that BMPR2 signaling contributes to AML pathogenesis. 29715457
2017-01-14 11:52:00 This study showed that the mutations of were detected in SPG11, ATL1, NIPA1, and ABCD1 in patient with hereditary spastic paraplegia. 27084228
2016-12-17 10:51:00 NIPA1 repeat expansion in the context of a C9orf72 repeat expansion would drive toward a motor neuron disease phenotype. 26777436

名称对应

Type IDs
Synonymous FSP3, SLC57A1, SPG6
Gene
UniProtKB-ID: NIPA1_HUMAN, A0A024R344_HUMAN, Q8TAY1_HUMAN
UniprotKB: Q7RTP0, A0A024R344, Q8TAY1
UniParc: UPI00001D9756, UPI0000374FB8, UPI0000070399
EMBL: BC025678, BX648722, BK001020, CH471258, BX537997, AK314073, AB089319, CR614719
Ensembl: ENSG00000288478, ENSG00000170113
KO: hsa:123606
Nucleutide sequences
EMBL-CDS: DAA01477.1, CAI45979.2, BAC67707.1, CAD97953.1, EAW65549.1, BAG36773.1, EAW65551.1, AAH25678.2
Gene_ORFName: hCG_1735858
Ensembl_TRS: ENST00000337435, ENST00000437912, ENST00000673341, ENST00000673033, ENST00000561183
Protein sequencees
Ensembl_PRO: ENSP00000453722, ENSP00000393962, ENSP00000500344, ENSP00000337452, ENSP00000500129
RefSeq: NP_653200.2, NP_001135747.1
Others
UniRef100: UniRef100_Q7RTP0, UniRef100_Q8TAY1, UniRef100_A0A024R344
UniRef90: UniRef90_I3M3E8, UniRef90_G1KMN9, UniRef90_Q7RTP0
UniRef50: UniRef50_Q7RTP0
UniGene: Hs.511797
CCDS: CCDS73691.1, CCDS73692.1

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