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

    Gene ID: 93426, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133553899..133568291, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134505424..134519736, complement)
    RS_2024_09 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. 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
    2. 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
    3. 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
    4. 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
    5. Molecular structure of human synaptonemal complex protein SYCE1. Dunne OM, et al. Chromosoma, 2019 Sep. PMID 30607510, Free PMC Article

    See all (32) 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.
    Submit: New GeneRIF Correction

    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
    		Compare labs
    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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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