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

    Gene ID: 23345, updated on 23-May-2012

    Summary

    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; SCAR8; C6orf98; dJ45H2.2; FLJ30878; FLJ41140; KIAA0796; KIAA1262; KIAA1756; DKFZp781J13156
    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]

    Genomic context

    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 uncharacterized LOC100505475 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

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    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: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: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 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    lamin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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:7541007
      Blast Score: 109
      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/TrEMBL
      E7EQI5
      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:7471000
      Blast Score: 109
      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 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)

    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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL049548.6 CAI42743.1
      CAX11912.1
      CAX11913.1
    genomic AL078582.13 CAI42282.1
      CAI42283.1
      CAI42284.1
      CAX15013.1
      CAX15014.1
    genomic AL136079.21 (2000..76413) None
    genomic AL138832.10 CAI42784.1
      CAI42785.1
      CAI42786.1
    genomic AL357081.26 CAI41322.1
      CAX14996.1
      CAX14997.1
      CAX14998.1
    genomic AL357081.26 CAI41322.1
      CAX14996.1
      CAX14997.1
      CAX14998.1
    genomic AL450401.12 CAI40727.1
      CAI40728.1
      CAI40729.1
      CAX11976.1
      CAX11977.1
    genomic AL589963.7 CAX14977.1
      CAX14978.1
    genomic AL591507.6 CAI39952.1
      CAX14914.1
      CAX14915.1
    genomic AL591507.6 CAI39952.1
      CAX14914.1
      CAX14915.1
    genomic CH471051.2 EAW47727.1
      EAW47728.1
      EAW47729.1
      EAW47730.1
      EAW47731.1
      EAW47732.1
      EAW47733.1
      EAW47734.1
      EAW47735.1
      EAW47736.1
      EAW47737.1
      EAW47738.1
      EAW47739.1
    mRNA AB018339.2 BAA34516.2
    mRNA AB033088.1 BAA86576.1
    mRNA AB051543.1 BAB21847.1
    mRNA AF043290.2 AAC02992.2
    mRNA AF444779.1 AAL38031.1
    mRNA AF495910.1 AAN60442.1
    mRNA AF535142.1 AAN03486.1
    mRNA AK055440.1 None
    mRNA AK056122.1 BAB71097.1
    mRNA AK057959.1 None
    mRNA AK091651.1 None
    mRNA AK094094.1 BAC04284.1
    mRNA AK122691.1 BAG53670.1
    mRNA AK123135.1 None
    mRNA AK127076.1 None
    mRNA AK304825.1 BAG65573.1
    mRNA AK308717.1 None
    mRNA AK310977.1 None
    mRNA AK316101.1 BAH14472.1
    mRNA AL713682.1 CAD28486.2
    mRNA AL833542.1 None
    mRNA AL833657.1 None
    mRNA AY061755.1 AAL33798.1
    mRNA AY061756.1 AAL33799.1
    mRNA AY135172.1 AAM95335.1
    mRNA AY183142.1 AAO23669.1
    mRNA AY184203.1 AAO27771.1
    mRNA AY184206.1 AAO27774.1
    mRNA BC028616.1 None
    mRNA BC039121.1 AAH39121.1
    mRNA BC090927.1 AAH90927.1
    mRNA BC150289.1 AAI50290.1
    mRNA BK000543.1 DAA01060.1
    mRNA BX537517.1 CAD97770.1
    mRNA BX537837.1 CAD97849.1
    mRNA BX647837.1 None
    mRNA CR933676.1 CAI45971.1
    mRNA FM162565.1 CAQ57272.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCV0 GenPept UniProtKB/TrEMBL:Q3ZCV0
    Q5BKU8 GenPept UniProtKB/TrEMBL:Q5BKU8
    Q5H9Q3 GenPept UniProtKB/TrEMBL:Q5H9Q3
    Q5JRD9 GenPept UniProtKB/TrEMBL:Q5JRD9
    Q5JV20 GenPept UniProtKB/TrEMBL:Q5JV20
    Q5JV23 GenPept UniProtKB/TrEMBL:Q5JV23
    Q5VUI5 GenPept UniProtKB/TrEMBL:Q5VUI5
    Q7RTM4 GenPept UniProtKB/TrEMBL:Q7RTM4
    Q7Z3K4 GenPept UniProtKB/TrEMBL:Q7Z3K4
    Q7Z3R1 GenPept UniProtKB/TrEMBL:Q7Z3R1
    Q8NF91.3 GenPept UniProtKB/Swiss-Prot:Q8NF91

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