This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively splic... See more...

Aliases for SYNE1 Gene

Aliases for SYNE1 Gene

  • Spectrin Repeat Containing Nuclear Envelope Protein 1 2 3 5
  • Myocyte Nuclear Envelope Protein 1 2 3 4
  • Nesprin-1 2 3 4
  • Enaptin 2 3 4
  • MYNE1 2 3 4
  • Spectrin Repeat Containing, Nuclear Envelope 1 2 3
  • Synaptic Nuclear Envelope Protein 1 3 4
  • KASH Domain-Containing Protein 1 3 4
  • DJ45H2.2 2 3
  • KIAA0796 2 4
  • C6orf98 3 4
  • ARCA1 2 3
  • KASH1 3 4
  • Nesp1 2 3
  • SCAR8 2 3
  • CPG2 2 3
  • 8B 2 3
  • Nuclear Envelope Spectrin Repeat Protein 1 4
  • Nuclear Envelope Spectrin Repeat-1 2
  • Chromosome 6 Open Reading Frame 98 2
  • Synaptic Nuclei Expressed Gene 1 3
  • CPG2 Full Length 3
  • EC 4.2.1.49 51
  • EC 4.3.1.3 51
  • Nesprin 1 3
  • KIAA1262 4
  • KIAA1756 4
  • SYNE-1B 2
  • Myne-1 4
  • Syne-1 4
  • EDMD4 3
  • SYNE1 5
  • AMCM 3

External Ids for SYNE1 Gene

Previous HGNC Symbols for SYNE1 Gene

  • C6orf98

Previous GeneCards Identifiers for SYNE1 Gene

  • GC06M152338
  • GC06M152473
  • GC06M152534
  • GC06M152485
  • GC06M150004
  • GC06M152442

Summaries for SYNE1 Gene

Entrez Gene Summary for SYNE1 Gene

  • This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SYNE1 Gene

SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) is a Protein Coding gene. Diseases associated with SYNE1 include Spinocerebellar Ataxia, Autosomal Recessive 8 and Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is SYNE2.

UniProtKB/Swiss-Prot Summary for SYNE1 Gene

  • Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNE1 Gene

Genomics for SYNE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYNE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J152377 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.1 +257.7 257687 4.6 GATAD2A PRDM10 REST RFX1 NFKBIZ RCOR2 PRDM1 POLR2A RXRB SP1 SYNE1-AS1 SYNE1 RF00017-5882 RF00017-5880 ESR1
GH06J152300 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600 +336.2 336241 2.7 CEBPG GATAD2A CTCF ZNF629 PRDM10 TFE3 ZNF692 POLR2A RCOR2 ZHX2 SYNE1 RF00001-292 RF00017-5880 ESR1
GH06J152634 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.6 1600 3.2 PRDM10 ZIC2 ZNF600 ZNF341 SCRT2 KLF9 SP2 EZH2 OSR2 ZBTB48 SYNE1 NANOGP11 lnc-MYCT1-2 ESR1
GH06J152313 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 609.8 +321.7 321734 5.9 SOX13 SP1 SCRT2 ZXDB CEBPB ELF1 FOXP1 ZNF792 BHLHE40 BATF SYNE1 SYNE1-AS1 RF00017-5880 RF00001-292 ESR1
GH06J152472 Promoter 0.8 EPDnew Ensembl 600.1 +166.0 165987 1.6 POLR2A TRIM28 SYNE1 RF00001-293 RNA5SP223 NANOGP11 lnc-MYCT1-2 ESR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNE1

Top Transcription factor binding sites by QIAGEN in the SYNE1 gene promoter:
  • COMP1
  • GATA-2
  • HNF-4alpha2
  • NF-1
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4

Genomic Locations for SYNE1 Gene

Genomic Locations for SYNE1 Gene
chr6:152,121,684-152,637,801
(GRCh38/hg38)
Size:
516,118 bases
Orientation:
Minus strand
chr6:152,442,819-152,958,936
(GRCh37/hg19)
Size:
516,118 bases
Orientation:
Minus strand

Genomic View for SYNE1 Gene

Genes around SYNE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNE1 Gene

Proteins for SYNE1 Gene

  • Protein details for SYNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NF91-SYNE1_HUMAN
    Recommended name:
    Nesprin-1
    Protein Accession:
    Q8NF91
    Secondary Accessions:
    • B3W695
    • E7EQI5
    • H0Y4C0
    • O94890
    • Q3ZCV0
    • Q5JV19
    • Q5JV22
    • Q8N9P7
    • Q8TCP1
    • Q8WWW6
    • Q8WWW7
    • Q8WXF6
    • Q96N17
    • Q9C0A7
    • Q9H525
    • Q9H526
    • Q9NS36
    • Q9NU50
    • Q9UJ06
    • Q9UJ07
    • Q9ULF8

    Protein attributes for SYNE1 Gene

    Size:
    8797 amino acids
    Molecular mass:
    1011086 Da
    Quaternary structure:
    • Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents can give rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE1/KASH1 LINC complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE1/KASH1 peptides bind at the interface of adjacent SUN domains. Self-associates. Interacts with SYNE3. Interacts with SPAG4/SUN4. May interact with MUSK. Interacts with F-actin via its N-terminal domain. Interacts with EMD and LMNA in vitro.
    SequenceCaution:
    • Sequence=AAC02992.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH39121.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAM95335.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin.; Evidence={ECO:0000305}; Sequence=BAB71097.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC04284.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD28486.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 10]: Lost in uterus, cervix, kidney, lung, thyroid and pancreas carcinomas, already at early tumor stages.
    • [Isoform 11]: Muscle-specific.
    • [Isoform GSRP-56]: Interacts with TRPV2.

    Three dimensional structures from OCA and Proteopedia for SYNE1 Gene

    Alternative splice isoforms for SYNE1 Gene

neXtProt entry for SYNE1 Gene

Selected DME Specific Peptides for SYNE1 Gene

Q8NF91:
  • PASVDSI
  • KGFKIDI

Post-translational modifications for SYNE1 Gene

  • The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SYNE1 Gene

Gene Families for SYNE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SYNE1 Gene

InterPro:
Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
ProtoNet:

Suggested Antigen Peptide Sequences for SYNE1 Gene

GenScript: Design optimal peptide antigens:
  • SYNE1 protein (A7E2D5_HUMAN)
  • Spectrin repeat containing, nuclear envelope 1 (B7ZBC3_HUMAN)
  • Spectrin repeat containing, nuclear envelope 1 (B7ZBC4_HUMAN)
  • Spectrin repeat containing, nuclear envelope 1 (B7ZBD0_HUMAN)
  • SYNE1 protein (Q3ZCV0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NF91

UniProtKB/Swiss-Prot:

SYNE1_HUMAN :
  • The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
  • Belongs to the nesprin family.
Domain:
  • The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
Family:
  • Belongs to the nesprin family.
genes like me logo Genes that share domains with SYNE1: view

Function for SYNE1 Gene

Molecular function for SYNE1 Gene

UniProtKB/Swiss-Prot Function:
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.

Enzyme Numbers (IUBMB) for SYNE1 Gene

Phenotypes From GWAS Catalog for SYNE1 Gene

Gene Ontology (GO) - Molecular Function for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA,IDA 12408964
GO:0005515 protein binding IEA,IPI 18396275
GO:0005521 lamin binding IPI 11801724
GO:0019899 enzyme binding IPI 24862572
genes like me logo Genes that share ontologies with SYNE1: view
genes like me logo Genes that share phenotypes with SYNE1: view

Human Phenotype Ontology for SYNE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYNE1 Gene

MGI Knock Outs for SYNE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNE1

No data available for Transcription Factor Targets and HOMER Transcription for SYNE1 Gene

Localization for SYNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNE1 Gene

Nucleus outer membrane. Single-pass type IV membrane protein. Cytoplasmic side. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.
[Isoform GSRP-56]: Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNE1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
golgi apparatus 5
cytosol 4
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA 24862572
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,HDA 21630459
GO:0005635 nuclear envelope IEA,IDA 11792814
GO:0005640 nuclear outer membrane IEA --
genes like me logo Genes that share ontologies with SYNE1: view

Pathways & Interactions for SYNE1 Gene

PathCards logo

SuperPathways for SYNE1 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with SYNE1: view

Pathways by source for SYNE1 Gene

3 Reactome pathways for SYNE1 Gene

SIGNOR curated interactions for SYNE1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization NAS 11792814
GO:0007030 Golgi organization IDA 12808039
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0042692 muscle cell differentiation IDA 11792814
genes like me logo Genes that share ontologies with SYNE1: view

Drugs & Compounds for SYNE1 Gene

(4) Drugs for SYNE1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SYNE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SYNE1: view

Transcripts for SYNE1 Gene

mRNA/cDNA for SYNE1 Gene

8 REFSEQ mRNAs :
49 NCBI additional mRNA sequence :
48 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNE1

Alternative Splicing Database (ASD) splice patterns (SP) for SYNE1 Gene

No ASD Table

Relevant External Links for SYNE1 Gene

GeneLoc Exon Structure for
SYNE1

Expression for SYNE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYNE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SYNE1 Gene

This gene is overexpressed in Islet of Langerhans (17.5), Peripheral blood mononuclear cells (8.7), and CD8 Tcells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYNE1 Gene



Protein tissue co-expression partners for SYNE1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNE1

SOURCE GeneReport for Unigene cluster for SYNE1 Gene:

Hs.12967

mRNA Expression by UniProt/SwissProt for SYNE1 Gene:

Q8NF91-SYNE1_HUMAN
Tissue specificity: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for SYNE1 Gene

  • Heart(5)
  • Nervous system(4.9)
  • Muscle(4.6)
  • Kidney(4.5)
  • Liver(4.5)
  • Spleen(4.5)
  • Adrenal gland(4.5)
  • Blood(4.2)
  • Eye(4.1)
  • Skin(2.8)
  • Intestine(2.6)
  • Lymph node(2.3)
  • Lung(2.3)
  • Bone marrow(2.3)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • neck
Thorax:
  • heart
  • heart valve
  • lung
  • scapula
Abdomen:
  • kidney
Limb:
  • arm
  • elbow
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SYNE1: view

No data available for mRNA differential expression in normal tissues for SYNE1 Gene

Orthologs for SYNE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYNE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SYNE1 30 31
  • 98.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNE1 31
  • 90 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNE1 30 31
  • 89.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Syne1 30 17 31 31
  • 84.41 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SYNE1 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Syne1 30
  • 82.79 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SYNE1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYNE1 30 31
  • 73.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SYNE1 31
  • 72 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii syne1b 30 31
  • 61.7 (n)
OneToMany
SYNE1 (2 of 2) 31
  • 30 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Msp-300 31
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea anc-1 31
  • 16 (a)
OneToMany
Species where no ortholog for SYNE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for SYNE1 Gene

ENSEMBL:
Gene Tree for SYNE1 (if available)
TreeFam:
Gene Tree for SYNE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYNE1: view image

Paralogs for SYNE1 Gene

(44) SIMAP similar genes for SYNE1 Gene using alignment to 27 proteins:

  • SYNE1_HUMAN
  • A7E2D5_HUMAN
  • E7ENN3_HUMAN
  • E9PEL9_HUMAN
  • F5GXQ8_HUMAN
  • F5GYQ7_HUMAN
  • F5GZ83_HUMAN
  • F5H422_HUMAN
  • F5H4Q0_HUMAN
  • F5H6R8_HUMAN
  • F8WAI0_HUMAN
  • H0Y325_HUMAN
  • H0Y326_HUMAN
  • H0Y4C0_HUMAN
  • H0YFT4_HUMAN
  • H0YGD3_HUMAN
  • I6WNA2_HUMAN
  • I6WZ08_HUMAN
  • I6WZ14_HUMAN
  • I6XKI8_HUMAN
  • I6XKJ3_HUMAN
  • I6XTI3_HUMAN
  • I6XXQ1_HUMAN
  • Q3ZCV0_HUMAN
  • Q5BKU8_HUMAN
  • Q5JV20_HUMAN
  • Q7RTM4_HUMAN
genes like me logo Genes that share paralogs with SYNE1: view

Variants for SYNE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNE1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
2335 Pathogenic: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE 152,151,692(-) T/C SPLICE_ACCEPTOR_VARIANT
635784 Pathogenic: Spinocerebellar ataxia, autosomal recessive 8 152,220,962(-) G/T NONSENSE
635787 Pathogenic: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE 152,122,594(-) G/A NONSENSE,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
638313 Uncertain Significance: not specified 152,330,857(-) C/G MISSENSE_VARIANT
638338 Pathogenic: Emery-Dreifuss muscular dystrophy 4, autosomal dominant 152,176,561(-) C/T SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for SYNE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SYNE1 Gene

Variant ID Type Subtype PubMed ID
esv1005915 CNV insertion 20482838
esv1098429 CNV insertion 17803354
esv22532 CNV loss 19812545
esv2537738 CNV deletion 19546169
esv2673379 CNV deletion 23128226
esv2732905 CNV deletion 23290073
esv2732907 CNV deletion 23290073
esv2732908 CNV deletion 23290073
esv2732909 CNV deletion 23290073
esv3571483 CNV loss 25503493
esv3611282 CNV gain 21293372
esv3611284 CNV loss 21293372
esv991344 CNV deletion 20482838
nsv1015648 CNV loss 25217958
nsv1029193 CNV gain 25217958
nsv1029227 CNV gain 25217958
nsv1032029 CNV loss 25217958
nsv1148096 CNV deletion 26484159
nsv349055 CNV deletion 16902084
nsv464082 CNV gain 19166990
nsv473659 CNV novel sequence insertion 20440878
nsv474437 CNV novel sequence insertion 20440878
nsv477451 CNV novel sequence insertion 20440878
nsv478853 CNV novel sequence insertion 20440878
nsv507369 OTHER sequence alteration 20534489
nsv508434 CNV deletion 20534489
nsv518810 CNV loss 19592680
nsv5542 CNV insertion 18451855
nsv5544 CNV insertion 18451855
nsv5545 CNV insertion 18451855
nsv604912 CNV loss 21841781
nsv604913 CNV gain 21841781
nsv818461 CNV gain 17921354
nsv830846 CNV loss 17160897
nsv958379 CNV deletion 24416366

Variation tolerance for SYNE1 Gene

Residual Variation Intolerance Score: 7.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.01; 99.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYNE1 Gene

Human Gene Mutation Database (HGMD)
SYNE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNE1 Gene

Disorders for SYNE1 Gene

MalaCards: The human disease database

(38) MalaCards diseases for SYNE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

SYNE1_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. {ECO:0000269 PubMed:17159980}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis multiplex congenita, myogenic type (AMCM) [MIM:618484]: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMCM is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints. {ECO:0000269 PubMed:19542096, ECO:0000269 PubMed:24319099, ECO:0000269 PubMed:27782104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SYNE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SYNE1: view

No data available for Genatlas for SYNE1 Gene

Publications for SYNE1 Gene

  1. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. (PMID: 19542096) Attali R … Melki J (Human molecular genetics 2009) 3 4 23
  2. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PMID: 18396275) Stewart-Hutchinson PJ … Hodzic D (Experimental cell research 2008) 3 4 23
  3. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (PMID: 17761684) Zhang Q … Shanahan CM (Human molecular genetics 2007) 3 4 23
  4. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. (PMID: 15093733) Padmakumar VC … Korenbaum E (Experimental cell research 2004) 3 4 23
  5. Golgi localization of Syne-1. (PMID: 12808039) Gough LL … Beck KA (Molecular biology of the cell 2003) 3 4 23

Products for SYNE1 Gene

Sources for SYNE1 Gene