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    SYNE1 spectrin repeat containing, nuclear envelope 1 [ Homo sapiens (human) ]

    Gene ID: 23345, updated on 22-May-2013
    Official Symbol
    SYNE1provided by HGNC
    Official Full Name
    spectrin repeat containing, nuclear envelope 1provided by HGNC
    Primary source
    HGNC:17089
    Locus tag
    RP1-130E4.2
    See related
    Ensembl:ENSG00000131018; HPRD:09762; MIM:608441; Vega:OTTHUMG00000015841
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    8B; CPG2; ARCA1; EDMD4; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
    Summary
    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]
    Location :
    6q25
    Sequence :
    Chromosome: 6; NC_000006.11 (152442819..152958534, complement)
    See SYNE1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 170 Neighboring gene estrogen receptor 1 Neighboring gene SYNE1 antisense RNA 1 Neighboring gene Nanog homeobox pseudogene 11 Neighboring gene heat shock 60kDa protein 1 (chaperonin) pseudogene 16 Neighboring gene myc target 1 Neighboring gene vasoactive intestinal peptide

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Spinocerebellar ataxia, autosomal recessive 8

    Summary from GeneReviews: SYNE1-Related Autosomal Recessive Cerebellar Ataxia Go to GeneReviews

    Disease Characteristics
    SYNE1-related autosomal recessive cerebellar ataxia (also known as autosomal recessive cerebellar ataxia type 1 or ARCA1) is characterized by onset of cerebellar ataxia and/or dysarthria at a mean age of 31 years (range 17-46 years). Over time, all affected individuals develop significant dysarthria and ataxia. Other associated features can include dysmetria, brisk lower-extremity tendon reflexes, and minor abnormalities in ocular saccades and pursuit. Disease progression is slow, resulting in moderate disability. Life expectancy appears to be normal.
    Diagnosis Testing
    Diagnosis is based on clinical findings and magnetic resonance imaging (MRI) which invariably shows (at the time of diagnosis) marked diffuse cerebellar atrophy with no other abnormalities. SYNE1 is the only gene in which mutation is currently known to cause ARCA1. Molecular genetic testing is available.
    Genetic Counseling
    ARCA1 is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal testing is available for pregnancies at increased risk in families in which the disease-causing mutations have been identified.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    NP_056108.1 NP_005177.2 CAPN1    BIND  PubMed CAPN1 interacts with SYNE1. 
    Q8NF91 P68032 ACTC1    HPRD  PubMed  
    Q8NF91 P07384 CAPN1    HPRD  PubMed  
    Q8NF91 Q9NRI5 DISC1    HPRD  PubMed  
    Q8NF91 P50402 EMD    HPRD  PubMed  
    Q8NF91 P02545 LMNA    HPRD  PubMed  
    Q8NF91 O15146 MUSK    HPRD  PubMed  
    Q8NF91 Q8NF91 SYNE1    HPRD  PubMed  
    BioGRID:116928 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:107433 CDC42    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:107424 CDC5L    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:123200 CEP63    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:118061 DISC1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:116928 BioGRID:123857 DTNBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:108325 EMD    BioGRID  PubMed Reconstituted Complex 
    BioGRID:116928 BioGRID:108403 ESR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116928 BioGRID:116966 KIAA0368    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:110186 LMNA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:116928 BioGRID:110679 MUSK    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:116928 BioGRID:123527 NDEL1    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:212013 Nde1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116928 BioGRID:114853 SH3BP5    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:116935 SUN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116928 BioGRID:117312 SUN2    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure 
    BioGRID:116928 BioGRID:116928 SYNE1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:116928 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116928 BioGRID:116682 TNIK    BioGRID  PubMed Two-hybrid 
    BioGRID:116928 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116928 BioGRID:971434 US3    BioGRID  PubMed Affinity Capture-MS 
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic Synapsis, organism-specific biosystem (from REACTOME)
      Meiotic Synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...

    Markers

    Homology

    Clone Names

    • FLJ30878, FLJ41140, KIAA0796, KIAA1262, KIAA1756, DKFZp781J13156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    Golgi organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell death IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeletal anchoring at nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix anchoring at nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SUN-KASH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    nesprin-1
    Names
    nesprin-1
    enaptin
    nesprin 1
    synaptic nuclei expressed gene 1
    myocyte nuclear envelope protein 1
    nuclear envelope spectrin repeat-1
    synaptic nuclear envelope protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012855.1 RefSeqGene

      Range
      5001..520716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033071.3NP_149062.1  nesprin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. This results in a shorter protein (isoform 2 which has also been referred to as the longer isoform), compared to isoform 1.
      Source sequence(s)
      AF535142, AL078582
      Consensus CDS
      CCDS5235.1
      UniProtKB/Swiss-Prot
      Q8NF91
      Related
      ENSP00000396024, OTTHUMP00000017440, ENST00000423061, OTTHUMT00000042732
      Conserved Domains (6) summary
      cd00014
      Location:28141
      Blast Score: 174
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:79298139
      Blast Score: 195
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      COG0419
      Location:37334302
      Blast Score: 110
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
      COG1196
      Location:14232276
      Blast Score: 174
      Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
      TIGR02168
      Location:40854923
      Blast Score: 100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:87198748
      Blast Score: 164
      KASH; Nuclear envelope localisation domain
    2. NM_182961.3NP_892006.3  nesprin-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1 which has also been referred to as the longest isoform).
      Source sequence(s)
      AF495910, AL078582, AL136079, AL138832, AL357081, AL589963
      Consensus CDS
      CCDS5236.2
      UniProtKB/Swiss-Prot
      Q8NF91
      Related
      ENSP00000356224, OTTHUMP00000205471, ENST00000367255, OTTHUMT00000334755
      Conserved Domains (5) summary
      cd00014
      Location:28134
      Blast Score: 192
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:80008210
      Blast Score: 194
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      COG1196
      Location:14162269
      Blast Score: 173
      Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]
      TIGR02168
      Location:41564994
      Blast Score: 100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10541
      Location:87678796
      Blast Score: 164
      KASH; Nuclear envelope localisation domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      152442819..152958534, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      150004601..150521666, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      152441487..152957767, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099267.1: Suppressed sequence

      Description
      NM_001099267.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_001134379.1: Suppressed sequence

      Description
      NM_001134379.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    3. NM_015293.2: Suppressed sequence

      Description
      NM_015293.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    4. NM_133650.2: Suppressed sequence

      Description
      NM_133650.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

      Supplemental Content

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