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1Q6UXY1_HUMAN*   Trembl (?) | Description Local Annotation Link Reference
General Information
DescriptionApem9336 (otthump00000028513).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The N-terminal predicted helical stretch of the insulin receptor tyrosine kinase substrate p53 (IRSp53) is an evolutionary conserved F-actin bundling domain involved in filopodium formation. The domain has been named IMD after the IRSp53 and missing in metastasis (MIM) proteins in which it occurs. Filopodium-inducing IMD activity is regulated by Cdc42 and Rac1 and is SH3-independent .
  IPR013606:IRSp53/MIM homology domain
SH3 (Src homology 3) domains are often indicative of a protein involved in signal transduction related to cytoskeletal organisation. These were first described in the Src cytoplasmic tyrosine kinase . The structure is a partly opened beta barrel.
  IPR011511:Variant SH3
SH3 (src Homology-3) domains are small protein modules containing approximately 50 amino acid residues . They are found in a great variety of intracellular or membrane-associated proteins for example.n a variety of proteins with enzymatic activity.n adaptor proteins that lack catalytic sequences and in cytoskeletal proteins.uch as fodrin and yeast actin binding protein ABP-1. The SH3 domain has a characteristic fold which consists of five or six beta-strands arranged as two tightly packed anti-parallel beta sheets. The linker regions may contain short helices . The surface of the SH2-domain bears a flat.ydrophobic ligand-binding pocket which consists of three shallow grooves defined by conservative aromatic residues in which the ligand adopts an extended left-handed helical arrangement. The ligand binds with low affinity but this may be enhanced by multiple interactions.The region bound by the SH3 domain is in all cases proline-rich and contains PXXP as a core-conserved binding motif. The function of the SH3 domain is not well understood but they may mediate many diverse processes such as increasing local concentration of proteins.ltering their subcellular location and mediating the assembly of large multiprotein complexes .
  IPR001452:Src homology-3
SequencesProtein: Q6UXY1_HUMAN (529 aa)
mRNA: AY358164
Local Annotation
Synapse Ontology
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 158 residues, 36810855-36811328Exon2: 17 residues, 36811638-36811685Exon3: 71 residues, 36812194-36812402Exon4: 49 residues, 36813076-36813217Exon5: 74 residues, 36814700-36814917Exon6: 47 residues, 36815048-36815184Exon7: 53 residues, 36815474-36815627Exon8: 51 residues, 36822984-36823131Exon9: 41 residues, 36824015-36824132Exon10: 26 residues, 36824363-36824435Exon11: 22 residues, 36833804-36833866Exon12: 31 residues, 36834207-36834294Exon13: 27 residues, 36835085-36835161Exon14: 67 residues, 36836427-36836622Exon15: 2 residues, -Jump to Q6UXY1_HUMAN  
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Loci Cluster (Details)Loci: 3313 36334448-36359516 ~-25K 24689(GGA1)(+)Loci: 3314 36365427-36392885 ~-27K 24693(+)Loci: 3315 36533890-36543129 ~-9K 24705(GCAT)(+)Loci: 3316 36549334-36551448 ~-2K 24707(GALR3)(+)Loci: 3317 36783348-36801653 ~-18K 24722(PRKCABP)(+)Loci: 4568 36810855-36836622 ~-26K 24725(-)Loci: 4569 37152280-37181149 ~-29K 24733(KCNJ4)(-)Loci: 4570 37209390-37232262 ~-23K 24737(DDX17)(-)Loci: 4571 37460680-37481928 ~-21K 24750(UNC84B)(-)Loci: 4567 35932191-35938299 ~-6K 24676(SSTR3)(-)Link out to UCSC