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0KLDC2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameKLHDC2
DescriptionKelch domain containing protein 2 (hepatocellular carcinoma-associated antigen 33) (host cell factor homolog lcp).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GON/A
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The kelch motif was initially discovered in Kelch (). In this protein there are six copies of the motif. It has been shown that is related to galactose oxidase for which a structure has been solved . The kelch motif forms a beta sheet and several of these sheets associate to form a beta propeller structure as found in .nd .
  IPR011498:Kelch
Kelch is a 50-residue motif.amed after the Drosophila mutant in which it was first identified . The motif appears 6 times in Drosophila egg-chamber regulatory protein.nd is also found in mouse protein MIPP and in a number of poxviruses. In addition.elch repeats have been recognised in alpha- and beta-scruin and in galactose oxidase from the fungus Dactylium dendroides . The structure of galactose oxidase reveals that the repeated sequence corresponds to a 4-stranded anti-parallel beta-sheet motif that forms the repeat unit in a super-barrel structural fold .The known functions of kelch-containing proteins are diverse: scruin is an actin cross-linking protein; galactose oxidase catalyses the oxidation of the hydroxyl group at the C6 position in D-galactose; neuraminidase hydrolyses sialic acid residues from glycoproteins; and kelch may have a cytoskeletal function.s it is localised to the actin-rich ring canals that connect the 15 nurse cells to the developing oocyte in Drosophila . Nevertheless.ased on the location of the kelch pattern in the catalytic unit in galactose oxidase.unctionally important residues have been predicted in glyoxal oxidase .
  IPR006652:Kelch repeat
Galactose oxidase () is a monomeric enzyme that contains a single copper ion and catalyses the stereospecific oxidation of primary alcohols to their corresponding aldehyde . The protein contains an unusual covalent thioether bond between a tyrosine and a cysteine that forms during its maturation . Galactose oxidase is a three-domain protein: the N-terminal domain forms a jelly-roll sandwich.he central domain forms a seven 4-bladed beta-propeller.nd the C-terminal domain has an immunoglobulin-like fold.The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011043:Galactose oxidase, central
IPR011498:Kelch_2 
Evalue:-5.85387182235718 
Location:217-262IPR006652:Kelch_1 
Evalue:-3.21467018127441 
Location:90-125IPR006652:Kelch_1 
Evalue:-2.95860719680786 
Location:31-85IPR006652:Kelch_1 
Evalue:-1.31875872612 
Location:268-314
SequencesProtein: KLDC2_HUMAN (406 aa)
mRNA: BX161429 NM_014315
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: 185 residues, 49304536-49305089Exon2: 28 residues, 49308061-49308141Exon3: 41 residues, 49311028-49311146Exon4: 40 residues, 49314306-49314422Exon5: 29 residues, 49314645-49314727Exon6: 30 residues, 49314878-49314962Exon7: 29 residues, 49316062-49316143Exon8: 21 residues, 49316215-49316274Exon9: 38 residues, 49316680-49316790Exon10: 26 residues, 49317170-49317243Exon11: 31 residues, 49318837-49318925Exon12: 19 residues, 49319009-49319062Exon13: 104 residues, 49319297-49319605Exon14: 2 residues, -Jump to KLDC2_HUMANExon1: 150 residues, 49304641-49305089Exon2: 28 residues, 49308061-49308141Exon3: 41 residues, 49311028-49311146Exon4: 40 residues, 49314306-49314422Exon5: 29 residues, 49314645-49314727Exon6: 30 residues, 49314878-49314962Exon7: 72 residues, 49316062-49316274Exon8: 38 residues, 49316680-49316790Exon9: 26 residues, 49317170-49317243Exon10: 31 residues, 49318837-49318925Exon11: 19 residues, 49319009-49319062Exon12: 82 residues, 49319297-49319539Exon13: 2 residues, -Jump to KLDC2_HUMAN  
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Loci Cluster (Details)Loci: 2835 49429588-49431484 ~-2K 11111(ARF6)(+)Loci: 2836 49848796-49862418 ~-14K 11116(ATP5S)(+)Loci: 4130 49954996-50069126 ~-114K 11120(MAP4K5)(-)Loci: 2837 50096499-50169140 ~-73K 11121(SPG3A)(+)Loci: 2834 49304536-49319605 ~-15K 11105(KLHDC2)(+)Link out to UCSC