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 name Gene Name - the full gene name approved by the HGNC.
Synaptonemal complex central element protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SYCE1
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf94, CT76, POF12, SPGF15
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
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
Show/Hide all(13)
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
Other IDs Other 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
611486 28852 ENSG00000171772
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 Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Premature Ovarian Failure premature ovarian failure 12 rs875989885 N/A
Spermatogenic Failure spermatogenic failure 15 rs774225566 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
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