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22917 ZP1

22917

ZP1

zona pellucida glycoprotein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition zona pellucida glycoprotein 1

研究结论

Date Results Publications
2021-03-27 14:40:00 Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. 32244758
2020-10-03 12:52:00 ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report. 31734689
2019-10-26 11:22:00 Study report a characterization of ZP1 proteins carrying mutations from infertile patients, which suggests that, in human, filament cross-linking by ZP1 is crucial to form a stable zona pellucida (ZP) and map the function of ZP1 to its ZP-N1 domain and determine crystal structures of ZP-N1 homodimers from a chicken homolog of ZP1. 31300655
2019-08-31 12:40:00 Our findings presented compound heterozygous mutations in ZP1 associated with Empty follicle syndrome (EFS) and abnormal oocytes and provided further new evidence for the genetic basis of EFS and support for the genetic diagnosis of infertile individuals 30778819
2019-05-25 10:10:00 Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility. 30810869

名称对应

Type IDs
Synonymous HEL163, OOMD, OOMD1
Gene
UniProtKB-ID: ZP1_HUMAN, V9HWI9_HUMAN
UniprotKB: P60852, V9HWI9
UniParc: UPI0000351AA0
EMBL: AC004126, EU794684
Ensembl: ENSG00000149506
KO: hsa:22917
Nucleutide sequences
EMBL-CDS: ACJ13738.1
Ensembl_TRS: ENST00000278853
Protein sequencees
Ensembl_PRO: ENSP00000278853
RefSeq: XP_011543154.1, XP_011543155.1, NP_997224.2
Others
UniRef100: UniRef100_P60852
UniRef90: UniRef90_P60852
UniRef50: UniRef50_P60852
UniGene: Hs.172130
CCDS: CCDS31572.1

全选

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