Type | Description |
---|---|
Definition | atlastin GTPase 1 |
Date | Results | Publications |
---|---|---|
2020-11-21 13:12:00 | Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. | 31594988 |
2020-05-02 12:38:00 | The proposed mechanism ensures coordinated actions of ATL and Lnp in generating and maintaining three-way junctions. | 30498943 |
2020-04-04 11:07:00 | ATL deletion drastically reduces the number of junctions in the ER, very likely reducing membrane tension. Even when the network is transiently disrupted by the addition of purified cytATL1, a similar impact can be achieved. Interestingly, an ATL mutant, R77A, which is tethering competent but fusion deficient, is able to rescue lateral mobility defects and COPII formation. | 31239341 |
2019-09-28 11:58:00 | that GTP binding induces an atlastin conformational change that favors crossover dimerization for fusion and that the input of energy from nucleotide hydrolysis promotes complex disassembly for subunit recycling. | 30249723 |
2019-04-06 11:40:00 | This study was conducted to elucidate the genetic etiology of patients with the pure type autosomal dominant-hereditary spastic paraparesis diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In ATL1, 6 patients have previously reported c.776C > A mutation and 6 patients have novel c.470 T > C mutation. | 29907907 |
Type | IDs |
---|---|
Synonymous | AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1 |
Gene |
UniProtKB-ID:
ATLA1_HUMAN,
Q53F53_HUMAN,
A0A0S2Z5A2_HUMAN,
A0A0S2Z5B0_HUMAN
UniprotKB:
Q8WXF7,
Q53F53,
A0A0S2Z5A2,
A0A0S2Z5B0
UniParc:
UPI0000073893,
UPI000050A9B9,
UPI00001417B5
EMBL:
AL833591,
AK223436,
AL118556,
KU178621,
KU178622,
CH471078,
AF131801,
AL606834,
AK290185,
AY032844,
AF444143,
BC010708
Ensembl:
ENSG00000198513
KO:
hsa:51062
|
Nucleutide sequences |
EMBL-CDS:
EAW65705.1,
AAH10708.2,
AAK51160.1,
EAW65706.1,
CAH10392.1,
AAD20047.1,
BAF82874.1,
AAL37898.1,
BAD97156.1,
ALQ34080.1,
ALQ34079.1
Ensembl_TRS:
ENST00000441560,
ENST00000358385
|
Protein sequencees |
Ensembl_PRO:
ENSP00000413675,
ENSP00000351155
RefSeq:
NP_853629.2,
NP_056999.2,
NP_001121185.1
|
Others |
UniRef100:
UniRef100_A0A2J8WKG9,
UniRef100_Q8WXF7,
UniRef100_Q53F53
UniRef90:
UniRef90_Q8WXF7,
UniRef90_A0A452G5J9
UniRef50:
UniRef50_Q8WXF7
UniGene:
Hs.584905
CCDS:
CCDS9700.1,
CCDS32077.1
|
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Refseq |
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