• Gene id: 81493

Gene Summary

• Gene Symbol: SYNC   Gene   UCSC   Ensembl
• Aliases: SYNC1, SYNCOILIN
• Gene name: syncoilin, intermediate filament protein
• Alternate names: syncoilin, intermediate filament protein syncoilin, syncoilin intermediate filament 1, syncoilin-1,
• Gene location: 1p35.1 (32703595: 32679905)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein link
• OMIM: 139111

Protein Summary

• Protein general information: Q9H7C4  
  • Name: Syncoilin (Syncoilin intermediate filament 1) (Syncoilin 1)
  • Length: 482  
  • Mass: 55299
• Sequence:

  MASPEPRRGGDGAAQAARKTRVEANSPLPKNSGSLNEAEALNPEVTLSSEGSLNLEDILYLEDTGDLDETLYVQE
  TEKAEEALYIEEAMQPDEALHVEEPGNPEETVCVEETTEPDRIQFVEGPVEPGKPTSPEHVVYEGETVTRAEKSN
  PEESLRAEQSPSMEENLSIEDLELLEGRFQQCVQAVAQLEEERDQLIHELVLLREPALQEVQQVHQDILAAYKLH
  AQAELERDGLREEIRLVKQKLFKVTKECVAYQYQLECRQQDVAQFADFREVLTTRATQLSEELAQLRDAYQKQKE
  QLRQQLEAPPSQRDGHFLQESRRLSAQFENLMAESRQDLEEEYEPQFLRLLERKEAGTKALQRTQAEIQEMKEAL
  RPLQAEARQLRLQNRNLEDQIALVRQKRDEEVQQYREQLEEMEERQRQLRNGVQLQQQKNKEMEQLRLSLAEELS
  TYKAMLLPKSLEQADAPTSQAGGMETQSQGAV

• Structural information:
  • Protein Domains: (168..46-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR039008  IPR027702  
  • Prosite: PS51842
  • STRING: ENSP00000386439
• Other Databases: GeneCards:  SYNC  Malacards:  SYNC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0045103	intermediate filament-based process	IBA	biological process
GO:0042383	sarcolemma	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045103	intermediate filament-based process	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq