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0LYST_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameCHS1
DescriptionLysosomal trafficking regulator (beige homolog).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005768 endosome (TAS)
0015630 microtubule cytoskeleton (TAS)
0006968 cellular defense response (TAS)
0008333 endosome to lysosome transport (TAS)
0007165 signal transduction (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:
The "beige" mouse is established as an animal model of Chediak-HigashiSyndrome (CHS) . The BEACH domain was described in the BEIGE protein(D1035670) and in the highly homologous CHS protein . It is alsofound in distantly related proteins like.or example.nd which are factor associated with neutralsphingomyelinase activation .The BEACH domain is usually followed by a series of WD repeats (). The function of the BEACH domain isunknown.
  IPR000409:Beige/BEACH
WD-40 repeats (also known as WD or beta-transducin repeats) are short ~40 amino acid motifs.ften terminating in a Trp-Asp (W-D) dipeptide. WD-containing proteins have 4 to 16 repeating units.ll of which are thought to form a circularised beta-propeller structure. WD-repeat proteins are a large family found in all eukaryotes and are implicated in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control and apoptosis. The underlying common function of all WD-repeat proteins is coordinating multi-protein complex assemblies.here the repeating units serve as a rigid scaffold for protein interactions. The specificity of the proteins is determined by the sequences outside the repeats themselves. Examples of such complexes are G proteins (beta subunit is a beta-propeller).AFII transcription factor.nd E3 ubiquitin ligase .
  IPR001680:WD-40 repeat
The WD40 motif is found in a multitude of eukaryotic proteins involved in a variety of cellular processes . Repeated WD40 motifs act as a site for protein-protein interaction.nd proteins containing WD40 repeats are known to serve as platforms for the assembly of protein complexes or mediators of transient interplay among other proteins. In Arabidopsis sp..everal WD40-containig proteins act as key regulators of plant-specific developmental events. WD40 repeats usually assume a 7-8 bladed beta-propeller fold.ut proteins have been found with 4 to 16 repeated units.The structures of several WD40 repeat-containing proteins have been determined.ncluding the beta-1 subunit of the signal-transducing G protein heterotrimer.he C-terminal domain of yeast Tup1.he C-terminal domain of Groucho/tle1.he Cdc4 propeller domain.he bovine Arp2/3 complex 41 kDa subunit ARPC1.nd actin interacting protein 1. The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011046:WD40-like
IPR000409:Beach 
Evalue:-213.229141235352 
Location:3132-3422IPR001680:WD40 
Evalue:-6.42021656036377 
Location:3606-3644IPR001680:WD40 
Evalue:-2.76955103874207 
Location:3741-3779IPR001680:WD40 
Evalue:-1.72124636173248 
Location:3568-3593IPR000923:COPPER_BLUE 
Evalue:0 
Location:1683-1697IPR001680:WD40 
Evalue:0.146128035678238 
Location:3647-3690
SequencesProtein: LYST_HUMAN (3801 aa)
mRNA: NM_000081
Local Annotation
Synapse Ontology
microtubules of the presynaptic compartment function as the tracks for the intense traffic of organelles from cell body to axon terminals and vice versa. It is generally excluded from the presynaptic vesicle cluster.Microtubules do not directly regulate synapse morphology or function
sdb:0087 microtubules  (Evidence:keywords)
endosome of the presynaptic compartment. A cellular structure that is involved in the transport of proteins in the neuron after the proteins are endocytosed from the outside to the inside of the cell.
sdb:0088 endosome  (Evidence:keywords)
Various stages of the synaptic vesicle cycle, including attachment, prefusion, triggering, recycling and reloading of the vesicles with transmitter.
sdb:0098 synaptic vesicle cycling  (Evidence:keywords)
attachment of the vesicle filled with transmitters involves a specific interaction between the vesicle membrane and the presynaptic active zone.
sdb:0148 docking  (Evidence:keywords)
?
sdb:0247 cytoskeleton protein transport  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 678 residues, 233890970-233893001Exon2: 26 residues, 233893906-233893978Exon3: 54 residues, 233894387-233894544Exon4: 34 residues, 233907013-233907111Exon5: 48 residues, 233907402-233907542Exon6: 35 residues, 233916871-233916970Exon7: 47 residues, 233923272-233923409Exon8: 65 residues, 233927005-233927195Exon9: 79 residues, 233932669-233932900Exon10: 74 residues, 233939013-233939231Exon11: 49 residues, 233941979-233942120Exon12: 54 residues, 233945123-233945280Exon13: 24 residues, 233946634-233946701Exon14: 83 residues, 233950583-233950828Exon15: 53 residues, 233953950-233954103Exon16: 20 residues, 233957998-233958054Exon17: 22 residues, 233959518-233959580Exon18: 34 residues, 233960769-233960866Exon19: 50 residues, 233960954-233961100Exon20: 65 residues, 233963425-233963614Exon21: 27 residues, 233963752-233963829Exon22: 61 residues, 233964405-233964582Exon23: 71 residues, 233971344-233971551Exon24: 61 residues, 233973901-233974080Exon25: 66 residues, 233976258-233976450Exon26: 53 residues, 233981132-233981285Exon27: 57 residues, 233981927-233982094Exon28: 79 residues, 233982966-233983197Exon29: 58 residues, 233985400-233985570Exon30: 61 residues, 233987203-233987381Exon31: 211 residues, 233988894-233989522Exon32: 46 residues, 233992642-233992774Exon33: 68 residues, 233996001-233996200Exon34: 48 residues, 234000082-234000220Exon35: 52 residues, 234003764-234003914Exon36: 60 residues, 234004835-234005009Exon37: 84 residues, 234006985-234007231Exon38: 65 residues, 234010787-234010978Exon39: 55 residues, 234011849-234012010Exon40: 60 residues, 234017122-234017296Exon41: 50 residues, 234018623-234018768Exon42: 144 residues, 234021621-234022048Exon43: 38 residues, 234023425-234023535Exon44: 24 residues, 234030242-234030309Exon45: 77 residues, 234030793-234031020Exon46: 54 residues, 234032830-234032987Exon47: 56 residues, 234034426-234034588Exon48: 345 residues, 234035665-234036695Exon49: 695 residues, 234038377-234040457Exon50: 32 residues, 234042893-234042984Exon51: 68 residues, 234060148-234060347Exon52: 32 residues, 234063500-234063590Exon53: 28 residues, 234096765-234096843Exon54: 2 residues, -Jump to LYST_HUMAN  
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