Type | Description |
---|---|
Definition | NIPA magnesium transporter 1 |
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 |
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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Refseq |
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