Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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

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
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

Show/Hide all(9)

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
GO:0005829	Component	Cytosol	IDA
GO:0007130	Process	Synaptonemal complex assembly	IC	15944401
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
611486	28852	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

Interactions

View interactions

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)
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
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia	Obstructive azoospermia	rs121909016, rs121908805, rs144055758, rs397508761
Premature ovarian failure	PREMATURE OVARIAN FAILURE 12	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269 View all (40 more)
Spermatogenic failure	SPERMATOGENIC FAILURE 15	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs778145751, rs387906690, rs201095702, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424 View all (104 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Premature Ovarian Failure	premature ovarian failure 12	GenCC
Spermatogenic Failure	spermatogenic failure 15	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
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

SYCE1 (synaptonemal complex central element protein 1)