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Aliases for SYNC Gene

Aliases for SYNC Gene

  • Syncoilin, Intermediate Filament Protein 2 3
  • SYNC1 3 4 6
  • Syncoilin, Intermediate Filament 1 2 3
  • Syncoilin Intermediate Filament 1 3 4
  • Syncoilin-1 3 4
  • Intermediate Filament Protein Syncoilin 3
  • SYNCOILIN 3

External Ids for SYNC Gene

Previous HGNC Symbols for SYNC Gene

  • SYNC1

Previous GeneCards Identifiers for SYNC Gene

  • GC01M032919
  • GC01M033145
  • GC01M031260

Summaries for SYNC Gene

Entrez Gene Summary for SYNC Gene

  • 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 links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

GeneCards Summary for SYNC Gene

SYNC (Syncoilin, Intermediate Filament Protein) is a Protein Coding gene. Diseases associated with SYNC include intermediate charcot-marie-tooth neuropathy. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for SYNC Gene

  • Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNC Gene

Genomics for SYNC Gene

Regulatory Elements for SYNC Gene

Genomic Location for SYNC Gene

Start:
32,679,906 bp from pter
End:
32,703,596 bp from pter
Size:
23,691 bases
Orientation:
Minus strand

Genomic View for SYNC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SYNC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNC Gene

Proteins for SYNC Gene

  • Protein details for SYNC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7C4-SYNCI_HUMAN
    Recommended name:
    Syncoilin
    Protein Accession:
    Q9H7C4
    Secondary Accessions:
    • B4DNK8
    • B4DY58
    • C9IY41

    Protein attributes for SYNC Gene

    Size:
    482 amino acids
    Molecular mass:
    55299 Da
    Quaternary structure:
    • May link the dystrophin-associated glycoprotein complex (DAPC) to intracellular desmin (DES) filaments. Interacts with DES and DTNA.
    SequenceCaution:
    • Sequence=AAI19701.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI19702.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14970.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SYNC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNC Gene

Proteomics data for SYNC Gene at MOPED

Post-translational modifications for SYNC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SYNC Gene

No data available for DME Specific Peptides for SYNC Gene

Domains for SYNC Gene

Gene Families for SYNC Gene

HGNC:
  • IFF3 :Intermediate filaments type III

Protein Domains for SYNC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SYNC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H7C4

UniProtKB/Swiss-Prot:

SYNCI_HUMAN :
  • Q9H7C4
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with SYNC: view

Function for SYNC Gene

Molecular function for SYNC Gene

UniProtKB/Swiss-Prot Function: Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins.
UniProtKB/Swiss-Prot Induction: Up-regulated at the sarcolemma in individuals with various forms of neuromuscular disease.

Gene Ontology (GO) - Molecular Function for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SYNC: view

Phenotypes for SYNC Gene

genes like me logo Genes that share phenotypes with SYNC: view

Animal Models for SYNC Gene

MGI Knock Outs for SYNC:

miRNA for SYNC Gene

miRTarBase miRNAs that target SYNC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SYNC Gene

Localization for SYNC Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNC Gene

Cytoplasm, perinuclear region. Note=In skeletal muscle, colocalizes with DES and DTNA, and is localized at the myotendinous and neuromuscular junctions, sarcolemma and Z-lines. In myotubes, detected in a punctate cytoplasmic pattern (By similarity). {ECO:0000250 UniProtKB:Q9EPM5}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNC Gene COMPARTMENTS Subcellular localization image for SYNC gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
plasma membrane 2
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
GO:0005882 intermediate filament IEA --
GO:0030018 Z disc IEA --
GO:0031594 neuromuscular junction IEA --
genes like me logo Genes that share ontologies with SYNC: view

Pathways for SYNC Gene

SuperPathways for SYNC Gene

No Data Available

Interacting Proteins for SYNC Gene

Gene Ontology (GO) - Biological Process for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045103 intermediate filament-based process IEA --
genes like me logo Genes that share ontologies with SYNC: view

No data available for Pathways by source for SYNC Gene

Compounds for SYNC Gene

(1) Novoseek inferred chemical compound relationships for SYNC Gene

Compound -log(P) Hits PubMed IDs
dapc 93 3
genes like me logo Genes that share compounds with SYNC: view

Transcripts for SYNC Gene

mRNA/cDNA for SYNC Gene

(12) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SYNC Gene

Syncoilin, intermediate filament protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SYNC Gene

No ASD Table

Relevant External Links for SYNC Gene

GeneLoc Exon Structure for
SYNC
ECgene alternative splicing isoforms for
SYNC

Expression for SYNC Gene

mRNA expression in normal human tissues for SYNC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYNC Gene

This gene is overexpressed in Muscle - Skeletal (11.2) and Esophagus - Muscularis (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SYNC Gene

SOURCE GeneReport for Unigene cluster for SYNC Gene Hs.712631

genes like me logo Genes that share expressions with SYNC: view

No data available for mRNA Expression by UniProt/SwissProt for SYNC Gene

Orthologs for SYNC Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNC 35
  • 98.96 (n)
  • 98.34 (a)
SYNC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYNC 35
  • 85.08 (n)
  • 80.96 (a)
SYNC 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNC 35
  • 85.66 (n)
  • 83.62 (a)
SYNC 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sync 35
  • 81.17 (n)
  • 79.1 (a)
Sync 16
Sync 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYNC 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sync 35
  • 80.57 (n)
  • 78.51 (a)
chicken
(Gallus gallus)
Aves SYNC 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNC 36
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sync 35
  • 48.4 (n)
  • 34.06 (a)
sync 36
  • 26 (a)
OneToOne
Species with no ortholog for SYNC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYNC Gene

ENSEMBL:
Gene Tree for SYNC (if available)
TreeFam:
Gene Tree for SYNC (if available)

Paralogs for SYNC Gene

No data available for Paralogs for SYNC Gene

Variants for SYNC Gene

Sequence variations from dbSNP and Humsavar for SYNC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs191701 -- 32,692,125(-) cctcc(C/T)gagta intron-variant
rs191702 -- 32,691,196(-) ctgtc(A/G)cccag intron-variant
rs360028 -- 32,692,241(-) atgat(G/T)atTAT intron-variant
rs360029 -- 32,692,094(-) ccacc(A/G)cacca intron-variant
rs360030 -- 32,692,028(-) gtctc(C/G)atctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYNC Gene

Variant ID Type Subtype PubMed ID
nsv461039 CNV Loss 19166990
nsv519188 CNV Loss 19592680
esv2746530 CNV Deletion 23290073
esv2746541 CNV Deletion 23290073
esv2661423 CNV Deletion 23128226
nsv509158 CNV Insertion 20534489

Relevant External Links for SYNC Gene

HapMap Linkage Disequilibrium report
SYNC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNC Gene

Disorders for SYNC Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SYNC Gene including...

Search for SYNC Gene in MalaCards »

(5) Novoseek inferred disease relationships for SYNC Gene

Disease -log(P) Hits PubMed IDs
desmin-related myopathy 92.7 2
muscular dystrophies 78.2 3
neuromuscular diseases 72.5 3
muscular dystrophy becker 68.2 1
myopathy 61 1
genes like me logo Genes that share disorders with SYNC: view

No data available for UniProtKB/Swiss-Prot for SYNC Gene

Publications for SYNC Gene

  1. Syncoilin upregulation in muscle of patients with neuromuscular disease. (PMID: 16124004) Brown S.C. … Muntoni F. (Muscle Nerve 2005) 3 4 23
  2. Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. (PMID: 11694502) Poon E. … Davies K.E. (J. Biol. Chem. 2002) 3 23
  3. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. (PMID: 11053421) Newey S.E. … Blake D.J. (J. Biol. Chem. 2001) 2 3
  4. Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles. (PMID: 20199207) Wakayama Y. … Masaki H. (Int. J. Neurosci. 2010) 3 23
  5. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PMID: 7566098) Adams M.D. … White O. (Nature 1995) 3

Products for SYNC Gene

Sources for SYNC Gene

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