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Synm synemin, intermediate filament protein [ Mus musculus (house mouse) ]

Gene ID: 233335, updated on 5-Mar-2024

Summary

Official Symbol
Synmprovided by MGI
Official Full Name
synemin, intermediate filament proteinprovided by MGI
Primary source
MGI:MGI:2661187
See related
Ensembl:ENSMUSG00000030554 AllianceGenome:MGI:2661187
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Dmn; Syn; Synemin; E130104F11; 4930412K21Rik
Summary
Enables intermediate filament binding activity. Acts upstream of or within fast-twitch skeletal muscle fiber contraction. Located in neurofilament cytoskeleton and sarcolemma. Is expressed in several structures, including adipose tissue; genitourinary system; gut; musculature; and nervous system. Orthologous to human SYNM (synemin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in bladder adult (RPKM 111.2), colon adult (RPKM 14.6) and 4 other tissues See more
Orthologs
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Genomic context

Location:
7 C; 7 37.12 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (67379909..67409490, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (67730161..67759742, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 28 Neighboring gene STARR-seq mESC enhancer starr_19098 Neighboring gene predicted gene, 32983 Neighboring gene STARR-seq mESC enhancer starr_19100 Neighboring gene STARR-seq mESC enhancer starr_19102 Neighboring gene STARR-positive B cell enhancer ABC_E550 Neighboring gene tetratricopeptide repeat domain 23 Neighboring gene predicted gene, 34140 Neighboring gene RIKEN cDNA 4833412C05 gene Neighboring gene predicted gene, 34350 Neighboring gene STARR-seq mESC enhancer starr_19103 Neighboring gene predicted gene, 39027

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC56976

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables intermediate filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables intermediate filament binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
enables structural constituent of cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
 
enables structural constituent of muscle ISO
Inferred from Sequence Orthology
more info
 
enables vinculin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables vinculin binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Z disc ISO
Inferred from Sequence Orthology
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in costamere IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in costamere ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in intermediate filament ISO
Inferred from Sequence Orthology
more info
 
located_in intermediate filament cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neurofilament cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neurofilament cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

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.

mRNA and Protein(s)

  1. NM_183312.3NP_899135.3  synemin isoform L

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frameshift and early stop codon, compared to variant 1. The encoded protein (isoform L) has a shorter and distinct C-terminus, compared to isoform H.
    Source sequence(s)
    AC158296, AK143019
    Consensus CDS
    CCDS85316.1
    UniProtKB/TrEMBL
    A0A140LJ61
    Related
    ENSMUSP00000147089.2, ENSMUST00000208231.2
    Conserved Domains (1) summary
    pfam00038
    Location:10318
    Filament; Intermediate filament protein
  2. NM_201639.2NP_964001.2  synemin isoform H

    See identical proteins and their annotated locations for NP_964001.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (H).
    Source sequence(s)
    AC158296, AK143019
    Consensus CDS
    CCDS39982.1
    UniProtKB/Swiss-Prot
    Q3UPZ4, Q6A081, Q70IV3, Q70IV4, Q70IV5
    Related
    ENSMUSP00000073855.5, ENSMUST00000074233.12
    Conserved Domains (2) summary
    pfam00038
    Location:10318
    Filament; Intermediate filament protein
    pfam13801
    Location:79157
    Metal_resist; Heavy-metal resistance
  3. NM_207663.3NP_997546.2  synemin isoform M

    See identical proteins and their annotated locations for NP_997546.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a shorter protein (isoform M), compared to isoform H.
    Source sequence(s)
    AC158296, AK143019
    Consensus CDS
    CCDS39983.1
    UniProtKB/Swiss-Prot
    Q70IV5
    Related
    ENSMUSP00000050987.9, ENSMUST00000051389.10
    Conserved Domains (2) summary
    pfam00038
    Location:10318
    Filament; Intermediate filament protein
    pfam13801
    Location:79157
    Metal_resist; Heavy-metal resistance

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    67379909..67409490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)