• Gene id: 93426

Gene Summary

• Gene Symbol: SYCE1   Gene   UCSC   Ensembl
• Aliases: C10orf94, CT76, POF12, SPGF15
• Gene name: synaptonemal complex central element protein 1
• Alternate names: synaptonemal complex central element protein 1, cancer/testis antigen 76,
• Gene location: 10q26.3 (133568274: 133553899)     Exons: 14     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central regio
• OMIM: 611486

SNPs

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

Protein Summary

• Protein general information: Q8N0S2  
  • Name: Synaptonemal complex central element protein 1 (Cancer/testis antigen 76) (CT76)
  • Length: 351  
  • Mass: 39,699
• Sequence:

  MAGRSLTSKAEPTAGAVDRAEKAGGQDTSSQKIEDLMEMVQKLQKVGSLEPRVEVLINRINEVQQAKKKANKDLG
  EARTICEALQKELDSLHGEKVHLKEILSKKQETLRILRLHCQEKESEAHRKHTMLQECKERISALNLQIEEEKNK
  QRQLRLAFEEQLEDLMGQHKDLWDFHMPERLAKEICALDSSKEQLLKEEKLVKATLEDVKHQLCSLCGAEGPSTL
  DEGLFLRSQEAAATVQLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQRLKEELEKHGMQVPAQAQSTQEEE
  AGPGDVASPKPLKGERPGAAHQAGPDVLIGQEDTLHPDLSPRGFQEIKELF

• Structural information:
  • Interpro: IPR026676  
  • STRING: ENSP00000341282
• Other Databases: GeneCards:  SYCE1  Malacards:  SYCE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000801	central element	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007130	synaptonemal complex assembly	IC	biological process
GO:0051301	cell division	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000801	central element	IEA	cellular component
GO:0000801	central element	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007130	synaptonemal complex assembly	IC	biological process
GO:0051301	cell division	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0070193	synaptonemal complex organization	IEA	biological process
GO:0000801	central element	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007130	synaptonemal complex assembly	IC	biological process

Diseases

Associated diseases	References
Premature ovarian insufficiency (POI)	INFBASE: 25062452
Premature ovarian failure (POF)	INFBASE: 27301361
Non obstructive azoospermia	MIK: 25899990
Cryptorchidism	MIK: 28606200
Non-obstructive azoospermia	MIK: 25899990
Sertoli cell-only syndrome	MIK: 30478911
Male infertility	MIK: 30478911
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25899990	Non-obstructive azoospermia		Iranian jewish	2 patients with non-obstructive azoospermia	Male infertility
30478911	Sertoli cell-only syndrome, Male infertility			39 Sertoli cell-only syndrome infertile patients	Male infertility	HOXD9 SYCE1 COL1A1 H19 and KCNQ1
29713536	Sperm number defects	c.197-2 A?>?G (splice)			Male infertility	NGS
31916078	Nonobstructive azoospermia	c.375-2A?>?G		4 male infertility	Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray