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SYCE1 synaptonemal complex central element protein 1 [ Homo sapiens (human) ]

Gene ID: 93426, updated on 31-Mar-2024

Summary

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Official Symbol
SYCE1provided by HGNC
Official Full Name
synaptonemal complex central element protein 1provided by HGNC
Primary source
HGNC:HGNC:28852
See related
Ensembl:ENSG00000171772 MIM:611486; AllianceGenome:HGNC:28852
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT76; POF12; SPGF15; C10orf94
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 region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Expression
Biased expression in testis (RPKM 31.6), placenta (RPKM 4.3) and 1 other tissue See more
Orthologs
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Genomic context

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See SYCE1 in Genome Data Viewer
Location:
10q26.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133553899..133568291, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134505424..134519736, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135367403..135381795, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378575 Neighboring gene CYP2E1 5' regulatory region Neighboring gene uncharacterized LOC124902569 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:135344892-135346091 Neighboring gene cytochrome P450 family 2 subfamily E member 1 Neighboring gene shadow of prion protein pseudogene 1 Neighboring gene olfactory receptor family 6 subfamily L member 1 pseudogene Neighboring gene FSHD region gene 2 family member B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia. Huang Y, et al. BMC Med Genomics, 2022 Jun 19. PMID 35718780, Free PMC Article
  2. Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency. Zhe J, et al. Reprod Sci, 2020 Feb. PMID 31925770
  3. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. Pashaei M, et al. J Assist Reprod Genet, 2020 Feb. PMID 31916078, Free PMC Article
  4. Molecular structure of human synaptonemal complex protein SYCE1. Dunne OM, et al. Chromosoma, 2019 Sep. PMID 30607510, Free PMC Article
  5. Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. Maor-Sagie E, et al. J Assist Reprod Genet, 2015 Jun. PMID 25899990, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.
    Title: Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.
  2. Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.
    Title: Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.
  3. Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
    Title: Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
  4. Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency.
    Title: Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency.
  5. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
    Title: The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
  6. Structural core of SYCE1 is formed by amino acids 25-179, within N-terminal half of protein, which mediates SYCE1 dimerization. This alpha-helical core adopts curved coiled-coil structure of 20-nm length in which two chains are arranged in anti-parallel configuration. Structure is retained within full-length SYCE1, in which long C-termini adopt extended conformations to achieve an elongated molecule of over 50nm in length
    Title: Molecular structure of human synaptonemal complex protein SYCE1.
  7. A mutation in SYCE1 is associated with non-obstructive azoospermia.
    Title: Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
  8. Given the known function of the SYCE1 gene, we suggest that the nonsense mutation identified accounts for the primary ovarian insufficiency phenotype.
    Title: Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Premature ovarian failure 12
MedGen: C4310782 OMIM: 616947 GeneReviews: Not available
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Spermatogenic failure 15
MedGen: C4310779 OMIM: 616950 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CYP2E1

Homology

Clone Names

  • FLJ99976

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptonemal complex assembly IC
Inferred by Curator
more info
 PubMed 
Component Evidence Code Pubs
located_in central element ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in chromosome ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in synaptonemal complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
synaptonemal complex central element protein 1
Names
cancer/testis antigen 76
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052008.1 RefSeqGene

    Range
    7693..18429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143763.2 → NP_001137235.1  synaptonemal complex central element protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001137235.1

    Status: REVIEWED

    Source sequence(s)
    AK314978, AL161645, DB053356, DB336153
    Consensus CDS
    CCDS44500.1
    UniProtKB/TrEMBL
    A0A0B4J1R9, A0A384NQ41
    Related
    ENSP00000303978.5, ENST00000303903.10
    Conserved Domains (1) summary
    pfam15233
    Location:52 → 198
    SYCE1; Synaptonemal complex central element protein 1

  2. NM_001143764.3 → NP_001137236.1  synaptonemal complex central element protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001137236.1

    Status: REVIEWED

    Source sequence(s)
    AK314978, AL161645, BC034821, DB053356
    UniProtKB/Swiss-Prot
    B2RC80, Q8N0S2, Q9BWU3, Q9BWU4
    UniProtKB/TrEMBL
    A0A384NQ41
    Related
    ENSP00000341282.5, ENST00000343131.7
    Conserved Domains (1) summary
    pfam15233
    Location:52 → 198
    SYCE1; Synaptonemal complex central element protein 1

  3. NM_130784.4 → NP_570140.1  synaptonemal complex central element protein 1 isoform 1

    See identical proteins and their annotated locations for NP_570140.1

    Status: REVIEWED

    Source sequence(s)
    AL161645, AY027807, DB336153
    Consensus CDS
    CCDS7687.1
    UniProtKB/TrEMBL
    A0A384NQ41
    Related
    ENSP00000357503.3, ENST00000368517.7
    Conserved Domains (1) summary
    pfam15233
    Location:16 → 162
    SYCE1; Synaptonemal complex central element protein 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    133553899..133568291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    134505424..134519736 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_201564.1: Suppressed sequence

    Description
    NM_201564.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N0S2.2 GenPept UniProtKB/Swiss-Prot:Q8N0S2

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