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SYNM synemin [ Homo sapiens (human) ]

Gene ID: 23336, updated on 4-Jul-2021

Summary

Official Symbol
SYNMprovided by HGNC
Official Full Name
syneminprovided by HGNC
Primary source
HGNC:HGNC:24466
See related
Ensembl:ENSG00000182253 MIM:606087
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
DMN; SYN
Summary
The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in esophagus (RPKM 95.9), prostate (RPKM 82.3) and 15 other tissues See more
Orthologs
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Genomic context

See SYNM in Genome Data Viewer
Location:
15q26.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (99105069..99136586)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99645286..99675798)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene pyroglutamyl-peptidase I like Neighboring gene uncharacterized LOC105371013 Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1 Neighboring gene SYNM antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 23 Neighboring gene heat shock protein 90 beta family member 2, pseudogene Neighboring gene leucine rich repeat containing 28 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 62

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

  • KIAA0353

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables intermediate filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intermediate filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural constituent of cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural constituent of muscle IDA
Inferred from Direct Assay
more info
PubMed 
enables vinculin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables vinculin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in fast-twitch skeletal muscle fiber contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intermediate filament cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in costamere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in costamere IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in intermediate filament NAS
Non-traceable Author Statement
more info
PubMed 
located_in intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
is_active_in neurofilament cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neurofilament cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
synemin
Names
desmuslin
synemin alpha
synemin beta
synemin, intermediate filament protein

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_008210.2 RefSeqGene

    Range
    11867..42382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_415

mRNA and Protein(s)

  1. NM_015286.6NP_056101.5  synemin isoform B

    See identical proteins and their annotated locations for NP_056101.5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) lacks an internal segment of the coding region, compared to variant A. It maintains the reading frame and encodes a shorter isoform (B), compared to isoform A.
    Source sequence(s)
    AB002351, AC036108, AW292788
    Consensus CDS
    CCDS73786.1
    UniProtKB/Swiss-Prot
    O15061
    UniProtKB/TrEMBL
    A0A075B7B1
    Related
    ENSP00000472953.1, ENST00000594047.2
    Conserved Domains (2) summary
    pfam00038
    Location:11318
    Filament; Intermediate filament protein
    cl00514
    Location:59169
    Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...
  2. NM_145728.3NP_663780.2  synemin isoform A

    See identical proteins and their annotated locations for NP_663780.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) encodes the longer isoform (A).
    Source sequence(s)
    AB002351, AC036108, AW292788
    Consensus CDS
    CCDS73787.1
    UniProtKB/Swiss-Prot
    O15061
    Related
    ENSP00000336775.7, ENST00000336292.11
    Conserved Domains (2) summary
    pfam00038
    Location:11318
    Filament; Intermediate filament protein
    cl00514
    Location:59169
    Nitro_FMN_reductase; Proteins of this family catalyze the reduction of flavin or nitrocompounds using NAD(P)H as electron donor in a obligatory two-electron transfer, utilizing FMN or FAD as cofactor. They are often found to be homodimers. Enzymes of this family are ...

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_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    99105069..99136586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022035.1XP_016877524.1  synemin isoform X1

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