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93426 SYCE1

93426

SYCE1

synaptonemal complex central element protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition synaptonemal complex central element protein 1

研究结论

Date Results Publications
2020-12-12 13:21:00 Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency. 31925770
2020-12-05 13:04:00 The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. 31916078
2020-05-23 10:47:00 Structural core of SYCE1 is formed by amino acids 25-179, within N-terminal half of protein, which mediates SYCE1 dimerization. This alpha-helical core adopts curved coiled-coil structure of 20-nm length in which two chains are arranged in anti-parallel configuration. Structure is retained within full-length SYCE1, in which long C-termini adopt extended conformations to achieve an elongated molecule of over 50nm in length 30607510
2016-05-07 11:06:00 A mutation in SYCE1 is associated with non-obstructive azoospermia. 25899990
2015-01-24 11:52:00 Given the known function of the SYCE1 gene, we suggest that the nonsense mutation identified accounts for the primary ovarian insufficiency phenotype. 25062452

名称对应

Type IDs
Synonymous C10orf94, CT76, POF12, SPGF15
Gene
UniProtKB-ID: SYCE1_HUMAN, A0A0B4J1R9_HUMAN
UniprotKB: Q8N0S2, A0A0B4J1R9
UniParc: UPI000013F901, UPI000006F08E, UPI000003AEA3, UPI00000710F3
EMBL: AK314978, AY027808, AY027807, AY028079, BC034821, AL161645, CH471211
Ensembl: ENSG00000171772
KO: hsa:93426
Nucleutide sequences
EMBL-CDS: AAH34821.1, AAK14797.1, AAK21976.1, BAG37477.1, AAK14796.1, EAW61359.1
Ensembl_TRS: ENST00000343131, ENST00000368517, ENST00000303903
Protein sequencees
Ensembl_PRO: ENSP00000357503, ENSP00000341282, ENSP00000303978
RefSeq: NP_001137236.1, NP_001137235.1, NP_570140.1
Others
UniRef100: UniRef100_A0A0B4J1R9, UniRef100_Q8N0S2
UniRef90: UniRef90_Q8N0S2, UniRef90_Q4R7J8
UniRef50: UniRef50_Q8N0S2
UniGene: Hs.553795
CCDS: CCDS7687.1

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