Synaptonemal complex central element protein 1

SYCE1
Identifiers
Aliases	SYCE1, C10orf94, CT76, synaptonemal complex central element protein 1, POF12, SPGF15
External IDs	OMIM: 611486; MGI: 1921325; HomoloGene: 77044; GeneCards: SYCE1; OMA:SYCE1 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	133,569,835 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	140,367,765 bp
RNA expression pattern
	Top expressed in
	right testis; ; left testis; ; gonad; ; right hemisphere of cerebellum; ; right frontal lobe; ; testicle; ; anterior cingulate cortex; ; Brodmann area 9; ; prefrontal cortex; ; nucleus accumbens;
	Top expressed in
	seminiferous tubule; ; spermatocyte; ; spermatid; ; embryo; ; morula; ; embryo; ; zygote; ; ovary; ; Gonadal ridge; ; epiblast;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	synaptonemal complex; central element; nucleus; chromosome;
Biological process	cell cycle; meiosis; synaptonemal complex organization; synaptonemal complex assembly; cell division;
	Sources:Amigo / QuickGO
Orthologs
	93426
	74075
	ENSG00000171772
	ENSMUSG00000025480
	Q8N0S2
	Q9D495
	NM_201564; NM_001143763; NM_001143764; NM_130784
	NM_001143765
	NP_001137235; NP_570140; NP_001137236
	NP_001137237
	Wikidata
View/Edit Human	View/Edit Mouse

Synaptonemal complex central element protein 1 is a protein that in humans is encoded by the SYCE1 gene. ^[5]

Primary ovarian insufficiency can be caused by mutations in genes involved in essential steps in chromosome synapsis and recombination during meiosis. Mutation in the autosomal gene SYCE1 that encodes synaptonemal complex element 1 protein causes a primary ovarian insufficiency phenotype in humans.^[6] This finding highlights the importance of the synaptonemal complex and meiosis for ovarian function.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171772 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025480 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Synaptonemal complex central element protein 1". Retrieved 2017-01-21.
^ de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (October 2014). "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol. Metab. 99 (10): E2129–32. doi:10.1210/jc.2014-1268. PMID 25062452.