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0DESM_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameDES
DescriptionDesmin.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005882 intermediate filament (TAS)
0005200 structural constituent of cytoskeleton (TAS)
0007010 cytoskeleton organization and biogenesis (TAS)
0006936 muscle contraction (TAS)
0008016 regulation of heart contraction rate (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Intermediate filaments (IF) are proteins which are primordial components of the cytoskeleton and the nuclear envelope. They generally form filamentous structures 8 to 14 nm wide.IF proteins are members of a very large multigene family of proteins which has been subdivided in five major subgroups:Type I: Acidic cytokeratins.Type II: Basic cytokeratins.Type III: Vimentin.esmin.lial fibrillary acidic protein (GFAP).eripherin.nd plasticin.Type IV: Neurofilaments L. and M.lpha-internexin and nestin.Type V: Nuclear lamins A.1.2 and C.All IF proteins are structurally similar in that they consist of: a central rod domain comprising some 300 to 350 residues which is arranged in coiled-coiled alpha-helices.ith at least two short characteristic interruptions; a N-terminal non-helical domain (head) of variable length; and a C-terminal domain (tail) which is also non-helical.nd which shows extreme length variation between different IF proteins.While IF proteins are evolutionary and structurally related.hey have limited sequence homologies except in several regions of the rod domain.
  IPR001664:Intermediate filament protein
This domain represents the N-terminal head region of intermediate filaments. Intermediate filament heads bind DNA . Vimentin heads are able to alter nuclear architecture and chromatin distribution.nd the liberation of heads by HIV-1 protease liberates may play an important role in HIV-1 associated cytopathogenesis and carcinogenesis . Phosphorylation of the head region can affect filament stability . The head has been shown to interaction with the rod domain of the same protein .
  IPR006821:Intermediate filament, DNA-binding region
This domain consists of several insect apolipoprotein-III sequences. Exchangeable apolipoproteins constitute a functionally important family of proteins that play critical roles in lipid transport and lipoprotein metabolism. Apolipophorin III (apoLp-III) is a prototypical exchangeable apolipoprotein found in many insect species that functions in transport of diacylglycerol (DAG) from the fat body lipid storage depot to flight muscles in the adult life stage .The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011000:Apolipophorin III-like
IPR001664:Filament 
Evalue:-181.292434692383 
Location:106-414IPR006821:Filament_head 
Evalue:-39.9586067199707 
Location:8-105
SequencesProtein: DESM_HUMAN (469 aa)
mRNA: AY125465 NM_001927
Local Annotation
Synapse Ontology
intermediate filaments of the presynaptic compartments. Both microtubles and intermediate filaments represent the main structural scaffold of axons.
sdb:0086 intermediate filaments  (Evidence:keywords)
KO assignmentK07610
  Level 3 annotation:
    desmin
  Level 2 annotation:
    Membrane and intracellular structural molecules
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 222 residues, 219991342-219992006Exon2: 22 residues, 219993060-219993121Exon3: 34 residues, 219993216-219993312Exon4: 56 residues, 219993460-219993622Exon5: 44 residues, 219993793-219993919Exon6: 75 residues, 219994305-219994526Exon7: 16 residues, 219996742-219996786Exon8: 29 residues, 219998628-219998711Exon9: 265 residues, 219998914-219999703Exon10: 2 residues, -Jump to DESM_HUMANExon1: 193 residues, 219991428-219992006Exon2: 22 residues, 219993060-219993121Exon3: 34 residues, 219993216-219993312Exon4: 56 residues, 219993460-219993622Exon5: 44 residues, 219993793-219993920Exon6: 75 residues, 219994306-219994526Exon7: 16 residues, 219996742-219996786Exon8: 29 residues, 219998628-219998711Exon9: 21 residues, 219998914-219998971Exon10: 2 residues, -Jump to DESM_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3213 219232701-219236409 ~-4K 22084(BCS1L)(+)Loci: 3214 219354948-219388259 ~-33K 22089(CYP27A1)(+)Loci: 3215 219532641-219535120 ~-2K 22095(CDK5R2)(+)Loci: 4494 219782737-219791916 ~-9K 22116(ABCB6)(-)Loci: 3216 219991342-219999703 ~-8K 22140(DES)(+)Loci: 3217 220087295-220111732 ~-24K 22148(ACCN4)(+)Loci: 3218 220145197-220148671 ~-3K 22154(INHA)(+)Loci: 4493 219210885-219232599 ~-22K 22082(ZNF142)(-)Link out to UCSC