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51062 ATL1

51062

ATL1

atlastin GTPase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition atlastin GTPase 1

研究结论

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

名称对应

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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