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

Gene ID: 81493, updated on 6-Sep-2021

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
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
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Genomic context

See SYNC in Genome Data Viewer
Location:
1p35.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (32679906..32703596, complement)
105.20201022 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 zinc finger and BTB domain containing 8 opposite strand Neighboring gene RB binding protein 4, chromatin remodeling factor Neighboring gene Sharpr-MPRA regulatory region 8469 Neighboring gene KIAA1522

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

Homology

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
PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_012421.1 RefSeqGene

    Range
    5001..27855
    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
    Related
    ENSP00000386439.3, ENST00000409190.8
    Conserved Domains (1) summary
    pfam00038
    Location:170456
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    32679906..32703596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450012.1XP_024305780.1  syncoilin isoform X2

    Conserved Domains (1) summary
    pfam00038
    Location:82368
    Filament; Intermediate filament protein
  2. XM_024450013.1XP_024305781.1  syncoilin isoform X2

    Conserved Domains (1) summary
    pfam00038
    Location:82368
    Filament; Intermediate filament protein
  3. XM_024450014.1XP_024305782.1  syncoilin isoform X2

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

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

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