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9907 AP5Z1

9907

AP5Z1

adaptor related protein complex 5 subunit zeta 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition adaptor related protein complex 5 subunit zeta 1

研究结论

Date Results Publications
2019-03-16 10:49:00 Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of hereditary spastic paraplegia (HSP) , SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. 29726929

名称对应

Type IDs
Synonymous KIAA0415, SPG48, zeta
Gene
UniProtKB-ID: AP5Z1_HUMAN
UniprotKB: O43299
UniParc: UPI00001C1E75, UPI00003E5903, UPI000006F5B4
EMBL: AB007875, AC092610, BC037399, BC008841
Ensembl: ENSG00000242802
KO: hsa:9907
Nucleutide sequences
EMBL-CDS: BAA24845.1, AAH08841.2, AAH37399.1
Ensembl_TRS: ENST00000648925, ENST00000649063
Protein sequencees
Ensembl_PRO: ENSP00000497815, ENSP00000496830
RefSeq: NP_055670.1, NP_001351787.1
Others
UniRef100: UniRef100_O43299
UniRef90: UniRef90_O43299
UniRef50: UniRef50_O43299
UniGene: Hs.558440
CCDS: CCDS47528.1

全选

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