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    SYNC syncoilin, intermediate filament protein [ Homo sapiens (human) ]

    Gene ID: 81493, updated on 5-Mar-2024

    Summary

    Official Symbol
    SYNCprovided by HGNC
    Official Full Name
    syncoilin, intermediate filament proteinprovided by HGNC
    Primary source
    HGNC:HGNC:28897
    See related
    Ensembl:ENSG00000162520 MIM:611750; AllianceGenome:HGNC:28897
    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
    SYNC1; SYNCOILIN
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 20.2), appendix (RPKM 15.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SYNC in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32679906..32703593, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32539693..32563413, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33145507..33168371, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723870 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:33077607-33078108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 694 Neighboring gene zinc finger and BTB domain containing 8 opposite strand Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33107487-33108246 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33108247-33109005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 695 Neighboring gene hESC enhancers GRCh37_chr1:33116021-33116608 and GRCh37_chr1:33116609-33117197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 696 Neighboring gene RB binding protein 4, chromatin remodeling factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33154443-33154943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33160284-33161022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33167839-33168604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33168605-33169370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 607 Neighboring gene Sharpr-MPRA regulatory region 2185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33183271-33184026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33189892-33190720 Neighboring gene Sharpr-MPRA regulatory region 8469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33200787-33201312 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33201837-33202361 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33202362-33202885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 608 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:33219766-33220279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33225004-33225886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33225887-33226770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:33227405-33227625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33231243-33232135 Neighboring gene NHS like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33232136-33233029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33235076-33235991 Neighboring gene Sharpr-MPRA regulatory region 15696 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6796 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:33251929-33253128 Neighboring gene tyrosyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 697 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33269619-33270293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33270294-33270967 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33275934-33276570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33276571-33277206 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33282071-33282572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:33282573-33283072 Neighboring gene S100P binding protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC149625, MGC149626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intermediate filament-based process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    syncoilin
    Names
    intermediate filament protein syncoilin
    syncoilin intermediate filament 1
    syncoilin-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012421.2 RefSeqGene

      Range
      5823..28687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161708.2NP_001155180.2  syncoilin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC114489
      Consensus CDS
      CCDS53294.1
      Related
      ENSP00000362583.3, ENST00000373484.4
      Conserved Domains (1) summary
      pfam00038
      Location:170457
      Filament; Intermediate filament protein
    2. NM_030786.3NP_110413.3  syncoilin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC114489
      Consensus CDS
      CCDS367.2
      UniProtKB/Swiss-Prot
      B4DNK8, B4DY58, C9IY41, Q9H7C4
      Related
      ENSP00000386439.3, ENST00000409190.8
      Conserved Domains (1) summary
      pfam00038
      Location:170456
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      32679906..32703593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431210.1XP_047287166.1  syncoilin isoform X3

    2. XM_047431230.1XP_047287186.1  syncoilin isoform X3

    3. XM_047431221.1XP_047287177.1  syncoilin isoform X3

    4. XM_024450013.2XP_024305781.1  syncoilin isoform X2

      Conserved Domains (1) summary
      pfam00038
      Location:82368
      Filament; Intermediate filament protein
    5. XM_024450010.2XP_024305778.1  syncoilin isoform X1

      Conserved Domains (1) summary
      pfam00038
      Location:170456
      Filament; Intermediate filament protein
    6. XM_024450011.2XP_024305779.1  syncoilin isoform X2

      Conserved Domains (1) summary
      pfam00038
      Location:82368
      Filament; Intermediate filament protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      32539693..32563413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338892.1XP_054194867.1  syncoilin isoform X3

    2. XM_054338894.1XP_054194869.1  syncoilin isoform X3

    3. XM_054338893.1XP_054194868.1  syncoilin isoform X3

    4. XM_054338890.1XP_054194865.1  syncoilin isoform X2

    5. XM_054338889.1XP_054194864.1  syncoilin isoform X1

    6. XM_054338891.1XP_054194866.1  syncoilin isoform X2