SYCE1 (synaptonemal complex central element protein 1)

Gene

• Entrez ID: 93426
• Gene name: Synaptonemal complex central element protein 1
• Gene symbol: SYCE1
• Synonyms (NCBI Gene): C10orf94, CT76, POF12, SPGF15
• Chromosome: 10
• Chromosome location: 10q26.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774225566	T>C	Pathogenic	Splice acceptor variant
rs875989885	G>A	Pathogenic	Stop gained, coding sequence variant
rs1589966038	CT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038278	hsa-miR-26a-2-3p	CLASH	23622248
MIRT1405072	hsa-miR-23a	CLIP-seq
MIRT1405073	hsa-miR-23b	CLIP-seq
MIRT1405074	hsa-miR-23c	CLIP-seq
MIRT1405075	hsa-miR-3130-3p	CLIP-seq
MIRT1405076	hsa-miR-3185	CLIP-seq
MIRT1405077	hsa-miR-4325	CLIP-seq
MIRT1405078	hsa-miR-4474-5p	CLIP-seq
MIRT1405079	hsa-miR-4659a-5p	CLIP-seq
MIRT1405080	hsa-miR-4659b-5p	CLIP-seq
MIRT1405081	hsa-miR-4716-5p	CLIP-seq
MIRT1405082	hsa-miR-4717-3p	CLIP-seq
MIRT1405083	hsa-miR-4776-3p	CLIP-seq
MIRT1405084	hsa-miR-4793-3p	CLIP-seq
MIRT1405085	hsa-miR-5096	CLIP-seq
MIRT1405086	hsa-miR-544	CLIP-seq
MIRT1405087	hsa-miR-4704-3p	CLIP-seq
MIRT1405088	hsa-miR-4705	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000795	Component	Synaptonemal complex	IBA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000801	Component	Central element	IEA
GO:0000801	Component	Central element	ISS	15944401
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 26871637, 27107012, 31515488, 32296183, 33961781, 36217029
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0007130	Process	Synaptonemal complex assembly	IC	15944401
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070193	Process	Synaptonemal complex organization	IEA

Other IDs

• MIM: 611486
• HGNC: 28852
• e!Ensembl: ENSG00000171772

Protein

• UniProt ID: Q8N0S2
• Protein name: Synaptonemal complex central element protein 1 (Cancer/testis antigen 76) (CT76)
• Protein function: Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synapto
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15233	SYCE1	47 → 198	Synaptonemal complex central element protein 1	Coiled-coil

• Sequence:

  MAGRSLTSKAEPTAGAVDRAEKAGGQDTSSQKIEDLMEMVQKLQKVGSLEPRVEVLINRI
  NEVQQAKKKANKDLGEARTICEALQKELDSLHGEKVHLKEILSKKQETLRILRLHCQEKE
  SEAHRKHTMLQECKERISALNLQIEEEKNKQRQLRLAFEEQLEDLMGQHKDLWDFHMPER
  LAKEICALDSSKEQLLKEEKLVKATLEDVKHQLCSLCGAEGPSTLDEGLFLRSQEAAATV
  QLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQRLKEELEKHGMQVPAQAQSTQEEE
  AGPGDVASPKPLKGERPGAAHQAGPDVLIGQEDTLHPDLSPRGFQEIKELF

• Sequence length: 351

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Premature ovarian failure 12	Pathogenic	rs875989885	RCV000211464
Spermatogenic failure 15	Pathogenic	rs774225566	RCV000211704

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SYCE1-related disorder	Likely benign	rs374007149, rs150064711, rs1564854550, rs181747128, rs372342069	RCV003981444 RCV003977076 RCV003977135 RCV003939734 RCV003951519

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	24970476
Arrest of spermatogenesis	Associate	35413094
Azoospermia	Associate	25899990, 33728612, 35023261, 35366911, 35413094, 35718780
Colorectal Neoplasms	Associate	39208330
Down Syndrome	Associate	35718780
Genomic Instability	Associate	26203179
Infertility	Associate	33823999
Infertility Male	Associate	34954426, 35023261, 35718780
Nasopharyngeal Carcinoma	Associate	19805575
Neoplasms	Associate	39445568
Ovarian Dysgenesis 2	Associate	21256485
Primary Ovarian Insufficiency	Associate	21256485
Testicular Diseases	Associate	33728612
Testicular Neoplasms	Associate	39208330