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1Q7RTU8_HUMAN*   Trembl (?) | Description Local Annotation Link Reference
General Information
NameN/A
DescriptionHarmonin isoform b3.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005515 protein binding (IEA)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
PDZ domains are found in diverse signaling proteins in bacteria.easts.lants.nsects and vertebrates . PDZ domains can occur in one or multiple copies and are nearly always found in cytoplasmic proteins. They bind either the carboxyl-terminal sequences of proteins or internal peptide sequences . In most cases.nteraction between a PDZ domain and its target is constitutive.ith a binding affinity of 1 to 10 ┬ÁM. However.gonist-dependent activation of cell surface receptors is sometimes required to promote interaction with a PDZ protein. PDZ domain proteins are frequently associated with the plasma membrane. compartment where high concentrations of phosphatidylinositol 4.-bisphosphate (PIP2) are found. Direct interaction between PIP2 and a subset of class II PDZ domains (syntenin.ASK.iam-1) has been demonstrated. PDZ domains consist of 80 to 90 amino acids comprising six beta-strands (betaA to betaF) and two alpha-helices. and B.ompactly arranged in a globular structure. Peptide binding of the ligand takes place in an elongated surface groove as an antiparallel beta-strand interacts with the betaB strand and the B helix. The structure of PDZ domains allows binding to a free carboxylate group at the end of a peptide through a carboxylate-binding loop between the betaA and betaB strands.
  IPR001478:PDZ/DHR/GLGF
IPR001478:PDZ 
Evalue:-18.9208183288574 
Location:211-289IPR001478:PDZ 
Evalue:-18.5086383061657 
Location:96-168IPR001478:PDZ 
Evalue:-12.5086383061657 
Location:762-841
SequencesProtein: Q7RTU8_HUMAN (899 aa)
mRNA: NM_153676
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: 155 residues, 17472035-17472499Exon2: 38 residues, 17473691-17473800Exon3: 20 residues, 17474880-17474936Exon4: 38 residues, 17476284-17476394Exon5: 35 residues, 17479173-17479273Exon6: 20 residues, 17479604-17479658Exon7: 16 residues, 17480061-17480103Exon8: 19 residues, 17482769-17482820Exon9: 42 residues, 17483952-17484072Exon10: 163 residues, 17487478-17487961Exon11: 41 residues, 17488527-17488644Exon12: 53 residues, 17490024-17490177Exon13: 18 residues, 17494363-17494413Exon14: 43 residues, 17498992-17499117Exon15: 24 residues, 17499468-17499534Exon16: 49 residues, 17500906-17501049Exon17: 21 residues, 17501333-17501390Exon18: 22 residues, 17501541-17501601Exon19: 30 residues, 17502573-17502658Exon20: 33 residues, 17504469-17504564Exon21: 21 residues, 17504875-17504933Exon22: 10 residues, 17505138-17505163Exon23: 38 residues, 17505345-17505454Exon24: 48 residues, 17509276-17509415Exon25: 50 residues, 17509521-17509665Exon26: 24 residues, 17511377-17511445Exon27: 50 residues, 17522394-17522539Exon28: 2 residues, -Jump to Q7RTU8_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 2652 17714095-17750753 ~-37K 6405(KCNC1)(+)Loci: 3939 17472035-17522539 ~-51K 6397(-)Link out to UCSC