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Protein

Synaptonemal complex central element protein 1

Gene

SYCE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 synaptonemal complex assembly, stabilization and recombination (By similarity).By similarity

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • synaptonemal complex assembly Source: BHF-UCL
Complete GO annotation...

Keywordsi

Biological processCell cycle, Cell division, Meiosis

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.

Names & Taxonomyi

Protein namesi
Recommended name:
Synaptonemal complex central element protein 1
Alternative name(s):
Cancer/testis antigen 76
Short name:
CT76
Gene namesi
Name:SYCE1
Synonyms:C10orf94
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:28852. SYCE1.

Subcellular locationi

  • Nucleus
  • Chromosome

  • Note: Associates with chromatin. In prophase I stage of meiosis, localizes in the transverse central elements of the central region between lateral elements of the synaptonemal complexes. Found only where the chromosome cores are synapsed. Colocalizes with SYCE2 in the central elements (By similarity).By similarity

GO - Cellular componenti

  • central element Source: HGNC

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 12 (POF12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
See also OMIM:616947
Spermatogenic failure, 15 (SPGF15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder caused by spermatogenesis defects and characterized by non-obstructive azoospermia due to complete meiotic maturation arrest. SPGF15 inheritance is autosomal recessive.
See also OMIM:616950

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

DisGeNETi93426.
MIMi616947. phenotype.
616950. phenotype.
OpenTargetsiENSG00000171772.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA134876767.

Polymorphism and mutation databases

BioMutaiSYCE1.
DMDMi118573896.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002614261 – 351Synaptonemal complex central element protein 1Add BLAST351

Proteomic databases

EPDiQ8N0S2.
MaxQBiQ8N0S2.
PaxDbiQ8N0S2.
PeptideAtlasiQ8N0S2.
PRIDEiQ8N0S2.

PTM databases

iPTMnetiQ8N0S2.
PhosphoSitePlusiQ8N0S2.

Expressioni

Gene expression databases

BgeeiENSG00000171772.
CleanExiHS_SYCE1.
ExpressionAtlasiQ8N0S2. baseline and differential.
GenevisibleiQ8N0S2. HS.

Organism-specific databases

HPAiHPA040208.

Interactioni

Subunit structurei

Homodimer. Found in a complex with SYCP1 and SYCE2. Interacts with SYCP1, SYCE2 and SYCE3 (By similarity).By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi125023. 30 interactors.
IntActiQ8N0S2. 41 interactors.
STRINGi9606.ENSP00000341282.

Structurei

3D structure databases

ProteinModelPortaliQ8N0S2.
SMRiQ8N0S2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili52 – 290Sequence analysisAdd BLAST239

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi259 – 297Gln-richAdd BLAST39

Sequence similaritiesi

Belongs to the SYCE family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJFM. Eukaryota.
ENOG410YHCQ. LUCA.
GeneTreeiENSGT00390000017352.
HOGENOMiHOG000059636.
HOVERGENiHBG094011.
InParanoidiQ8N0S2.
KOiK19534.
OMAiGMQVPAQ.
OrthoDBiEOG091G0JAZ.
PhylomeDBiQ8N0S2.
TreeFamiTF337303.

Family and domain databases

InterProiIPR026676. SYCE1.
[Graphical view]
PANTHERiPTHR21731. PTHR21731. 1 hit.
PfamiPF15233. SYCE1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N0S2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAGRSLTSKA EPTAGAVDRA EKAGGQDTSS QKIEDLMEMV QKLQKVGSLE
60 70 80 90 100
PRVEVLINRI NEVQQAKKKA NKDLGEARTI CEALQKELDS LHGEKVHLKE
110 120 130 140 150
ILSKKQETLR ILRLHCQEKE SEAHRKHTML QECKERISAL NLQIEEEKNK
160 170 180 190 200
QRQLRLAFEE QLEDLMGQHK DLWDFHMPER LAKEICALDS SKEQLLKEEK
210 220 230 240 250
LVKATLEDVK HQLCSLCGAE GPSTLDEGLF LRSQEAAATV QLFQEEHRKA
260 270 280 290 300
EELLAAAAQR HQQLQQKCQQ QQQKRQRLKE ELEKHGMQVP AQAQSTQEEE
310 320 330 340 350
AGPGDVASPK PLKGERPGAA HQAGPDVLIG QEDTLHPDLS PRGFQEIKEL

F
Length:351
Mass (Da):39,699
Last modified:November 28, 2006 - v2
Checksum:i12E45FF6696080F8
GO
Isoform 2 (identifier: Q8N0S2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     308-351: SPKPLKGERPGAAHQAGPDVLIGQEDTLHPDLSPRGFQEIKELF → PRPGRPVTWWS

Show »
Length:282
Mass (Da):32,601
Checksum:iB0D483BF27BB31C7
GO
Isoform 3 (identifier: Q8N0S2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.
     308-351: SPKPLKGERPGAAHQAGPDVLIGQEDTLHPDLSPRGFQEIKELF → PRPGRPVTWWS

Note: No experimental confirmation available.
Show »
Length:190
Mass (Da):21,902
Checksum:iC888D4B18C59550B
GO

Sequence cautioni

The sequence AAH34821 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti321H → R in AAH34821 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029385132E → D. Corresponds to variant dbSNP:rs81813571 PublicationEnsembl.1
Natural variantiVAR_029386183K → R. Corresponds to variant dbSNP:rs37478811 PublicationEnsembl.1
Natural variantiVAR_029387317P → A. Corresponds to variant dbSNP:rs11101822Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0216901 – 128Missing in isoform 3. 1 PublicationAdd BLAST128
Alternative sequenceiVSP_0216911 – 36Missing in isoform 2. 2 PublicationsAdd BLAST36
Alternative sequenceiVSP_021692308 – 351SPKPL…IKELF → PRPGRPVTWWS in isoform 2 and isoform 3. 2 PublicationsAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY027807 mRNA. Translation: AAK14796.1.
AY027808 mRNA. Translation: AAK14797.1.
AY028079 Genomic DNA. Translation: AAK21976.1.
AK314978 mRNA. Translation: BAG37477.1.
AL161645 Genomic DNA. Translation: CAH70048.1.
CH471211 Genomic DNA. Translation: EAW61359.1.
BC034821 mRNA. Translation: AAH34821.1. Different initiation.
CCDSiCCDS7687.1. [Q8N0S2-2]
RefSeqiNP_001137235.1. NM_001143763.1.
NP_570140.1. NM_130784.3. [Q8N0S2-2]
UniGeneiHs.553795.

Genome annotation databases

EnsembliENST00000343131; ENSP00000341282; ENSG00000171772. [Q8N0S2-1]
ENST00000368517; ENSP00000357503; ENSG00000171772. [Q8N0S2-2]
GeneIDi93426.
KEGGihsa:93426.
UCSCiuc001lno.2. human. [Q8N0S2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY027807 mRNA. Translation: AAK14796.1.
AY027808 mRNA. Translation: AAK14797.1.
AY028079 Genomic DNA. Translation: AAK21976.1.
AK314978 mRNA. Translation: BAG37477.1.
AL161645 Genomic DNA. Translation: CAH70048.1.
CH471211 Genomic DNA. Translation: EAW61359.1.
BC034821 mRNA. Translation: AAH34821.1. Different initiation.
CCDSiCCDS7687.1. [Q8N0S2-2]
RefSeqiNP_001137235.1. NM_001143763.1.
NP_570140.1. NM_130784.3. [Q8N0S2-2]
UniGeneiHs.553795.

3D structure databases

ProteinModelPortaliQ8N0S2.
SMRiQ8N0S2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125023. 30 interactors.
IntActiQ8N0S2. 41 interactors.
STRINGi9606.ENSP00000341282.

PTM databases

iPTMnetiQ8N0S2.
PhosphoSitePlusiQ8N0S2.

Polymorphism and mutation databases

BioMutaiSYCE1.
DMDMi118573896.

Proteomic databases

EPDiQ8N0S2.
MaxQBiQ8N0S2.
PaxDbiQ8N0S2.
PeptideAtlasiQ8N0S2.
PRIDEiQ8N0S2.

Protocols and materials databases

DNASUi93426.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343131; ENSP00000341282; ENSG00000171772. [Q8N0S2-1]
ENST00000368517; ENSP00000357503; ENSG00000171772. [Q8N0S2-2]
GeneIDi93426.
KEGGihsa:93426.
UCSCiuc001lno.2. human. [Q8N0S2-1]

Organism-specific databases

CTDi93426.
DisGeNETi93426.
GeneCardsiSYCE1.
HGNCiHGNC:28852. SYCE1.
HPAiHPA040208.
MIMi611486. gene.
616947. phenotype.
616950. phenotype.
neXtProtiNX_Q8N0S2.
OpenTargetsiENSG00000171772.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA134876767.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJFM. Eukaryota.
ENOG410YHCQ. LUCA.
GeneTreeiENSGT00390000017352.
HOGENOMiHOG000059636.
HOVERGENiHBG094011.
InParanoidiQ8N0S2.
KOiK19534.
OMAiGMQVPAQ.
OrthoDBiEOG091G0JAZ.
PhylomeDBiQ8N0S2.
TreeFamiTF337303.

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.

Miscellaneous databases

GenomeRNAii93426.
PROiQ8N0S2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171772.
CleanExiHS_SYCE1.
ExpressionAtlasiQ8N0S2. baseline and differential.
GenevisibleiQ8N0S2. HS.

Family and domain databases

InterProiIPR026676. SYCE1.
[Graphical view]
PANTHERiPTHR21731. PTHR21731. 1 hit.
PfamiPF15233. SYCE1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSYCE1_HUMAN
AccessioniPrimary (citable) accession number: Q8N0S2
Secondary accession number(s): B2RC80, Q9BWU3, Q9BWU4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: January 18, 2017
This is version 112 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.