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SYCE1 (synaptonemal complex central element protein 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93426
Gene nameGene Name - the full gene name approved by the HGNC.
Synaptonemal complex central element protein 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SYCE1
SynonymsGene synonyms aliases
C10orf94, CT76, POF12, SPGF15
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000795 Component Synaptonemal complex IBA 21873635
GO:0000801 Component Central element ISS 15944401
GO:0005515 Function Protein binding IPI 25416956, 25910212, 26871637, 27107012, 31515488, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005694 Component Chromosome ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959
Age-related macular degeneration Age related macular degeneration rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475
Male infertility Male infertility with azoospermia or oligozoospermia due to single gene mutation rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Microphthalmos Microphthalmos rs794726862, rs1329285216
Unknown
Disease name Disease term dbSNP ID References
Physiologic amenorrhea Primary physiologic amenorrhea
Ovarian failure NON RARE IN EUROPE: Primary ovarian failure

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