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SYNE1 (spectrin repeat containing, nuclear envelope 1)

Identity

Other names8B
ARCA1
C6orf98
CPG2
EDMD4
MYNE1
Nesp1
SCAR8
dJ45H2.2
HGNC (Hugo) SYNE1
LocusID (NCBI) 23345
Location 6q25.1
Location_base_pair Starts at 152442819 and ends at 152957986 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SYNE1   17089
Cards
Entrez_Gene (NCBI)SYNE1  23345  spectrin repeat containing, nuclear envelope 1
GeneCards (Weizmann)SYNE1
Ensembl (Hinxton)ENSG00000131018 [Gene_View]  chr6:152442819-152957986 [Contig_View]  SYNE1 [Vega]
ICGC DataPortalENSG00000131018
cBioPortalSYNE1
AceView (NCBI)SYNE1
Genatlas (Paris)SYNE1
WikiGenes23345
SOURCE (Princeton)NM_001099267 NM_001134379 NM_015293 NM_033071 NM_133650 NM_182961
Genomic and cartography
GoldenPath (UCSC)SYNE1  -  6q25.1   chr6:152442819-152957986 -  6q25.1   [Description]    (hg19-Feb_2009)
EnsemblSYNE1 - 6q25.1 [CytoView]
Mapping of homologs : NCBISYNE1 [Mapview]
OMIM608441   610743   612998   
Gene and transcription
Genbank (Entrez)AB018339 AB033088 AB051543 AF043290 AF444779
RefSeq transcript (Entrez)NM_001099267 NM_001134379 NM_015293 NM_033071 NM_133650 NM_182961
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_012855 NT_025741 NW_001838990 NW_004929328
Consensus coding sequences : CCDS (NCBI)SYNE1
Cluster EST : UnigeneHs.12967 [ NCBI ]
CGAP (NCI)Hs.12967
Alternative Splicing : Fast-db (Paris)GSHG0027005
Alternative Splicing GalleryENSG00000131018
Gene ExpressionSYNE1 [ NCBI-GEO ]     SYNE1 [ SEEK ]   SYNE1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NF91 (Uniprot)
NextProtQ8NF91  [Medical]
With graphics : InterProQ8NF91
Splice isoforms : SwissVarQ8NF91 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    KASH (PS51049)   
Domains : Interpro (EBI)Actinin_actin-bd_CS [organisation]   CH-domain [organisation]   KASH [organisation]   Spectrin/alpha-actinin [organisation]   Spectrin_repeat [organisation]  
Related proteins : CluSTrQ8NF91
Domain families : Pfam (Sanger)CH (PF00307)    KASH (PF10541)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam10541    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  SPEC (SM00150)  
DMDM Disease mutations23345
Blocks (Seattle)Q8NF91
PDB (SRS)4DXR   
PDB (PDBSum)4DXR   
PDB (IMB)4DXR   
PDB (RSDB)4DXR   
Human Protein AtlasENSG00000131018 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ8NF91
HPRD09762
IPIIPI00386444   IPI00943590   IPI00170463   IPI00247295   IPI00247296   IPI00396977   IPI00940636   IPI00247300   IPI00748856   IPI00647370   IPI01019087   IPI01015487   IPI00917644   IPI01014069   IPI01013675   IPI00642043   IPI01012299   IPI01012718   IPI01009568   
Protein Interaction databases
DIP (DOE-UCLA)Q8NF91
IntAct (EBI)Q8NF91
FunCoupENSG00000131018
BioGRIDSYNE1
InParanoidQ8NF91
Interologous Interaction database Q8NF91
IntegromeDBSYNE1
STRING (EMBL)SYNE1
Ontologies - Pathways
Ontology : AmiGOactin binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear outer membrane  nucleolus  cytoplasm  Golgi apparatus  cytoskeleton  nucleus organization  Golgi organization  cell death  integral to membrane  sarcomere  nuclear membrane  SUN-KASH complex  muscle cell differentiation  protein homodimerization activity  postsynaptic membrane  cytoskeletal anchoring at nuclear membrane  nuclear matrix anchoring at nuclear membrane  
Ontology : EGO-EBIactin binding  protein binding  lamin binding  nucleus  nuclear envelope  nuclear outer membrane  nucleolus  cytoplasm  Golgi apparatus  cytoskeleton  nucleus organization  Golgi organization  cell death  integral to membrane  sarcomere  nuclear membrane  SUN-KASH complex  muscle cell differentiation  protein homodimerization activity  postsynaptic membrane  cytoskeletal anchoring at nuclear membrane  nuclear matrix anchoring at nuclear membrane  
Protein Interaction DatabaseSYNE1
Wikipedia pathwaysSYNE1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SYNE1
snp3D : Map Gene to Disease23345
SNP (GeneSNP Utah)SYNE1
SNP : HGBaseSYNE1
Genetic variants : HAPMAPSYNE1
Exome VariantSYNE1
1000_GenomesSYNE1 
ICGC programENSG00000131018 
Somatic Mutations in Cancer : COSMICSYNE1 
CONAN: Copy Number AnalysisSYNE1 
Mutations and Diseases : HGMDSYNE1
Genomic VariantsSYNE1  SYNE1 [DGVbeta]
dbVarSYNE1
ClinVarSYNE1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM608441    610743    612998   
MedgenSYNE1
GENETestsSYNE1
Disease Genetic AssociationSYNE1
Huge Navigator SYNE1 [HugePedia]  SYNE1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSYNE1
Homology/Alignments : Family Browser (UCSC)SYNE1
Phylogenetic Trees/Animal Genes : TreeFamSYNE1
Chemical/Protein Interactions : CTD23345
Chemical/Pharm GKB GenePA134975331
Clinical trialSYNE1
Cancer Resource (Charite)ENSG00000131018
Other databases
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
CoreMineSYNE1
iHOPSYNE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:21:51 CEST 2014

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