KEGG   Homo sapiens (human): 388552
Entry
388552            CDS       T01001                                 
Symbol
BLOC1S3, BLOS3, HPS8, RP
Name
(RefSeq) biogenesis of lysosomal organelles complex 1 subunit 3
  KO
K20186  biogenesis of lysosome-related organelles complex 1 subunit 3
Organism
hsa  Homo sapiens (human)
Disease
H00166  Hermansky-Pudlak syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    388552 (BLOC1S3)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-1 complex
    388552 (BLOC1S3)
SSDB
Motif
Pfam: BLOC1S3
Other DBs
NCBI-GeneID: 388552
NCBI-ProteinID: NP_997715
OMIM: 609762
HGNC: 20914
Ensembl: ENSG00000189114
UniProt: Q6QNY0
Position
19:45178784..45217083
AA seq 202 aa
MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEA
AETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARL
DHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGC
RLLPDIRGVPGTEPEKDPGPRA
NT seq 609 nt   +upstreamnt  +downstreamnt
atggcgtcccagggtcgtcggcggaggcccctgcggaggccggagacggtggtgccgggg
gaggcgaccgagacggattccgagcgctctgcgtcctcgtcggaggaggaggagctgtac
ctgggtccttcgggcccgacgcgcggccgccccacggggctgcgggtggctggggaagcc
gcggagaccgactcggagccggagccggagccggaaccgacggccgcgccgagggacctg
cctccactcgtggtgcagcgggaatcggcggaggaggcctggggcacggaggaggccccg
gcgcccgcccccgcgcgctcgctcctgcaacttcggctggcggagagccaggcgcggctg
gaccacgacgtggcggccgccgtgagcggtgtctaccgccgtgcaggccgcgacgtggcc
gccctggctagtaggctggcggcagcccaggcggcggggctggcggcggcccacagcgtg
cgcctggcgcgcggggacctttgtgcgctggccgagcgtctggacatcgtggctggctgc
cgcctgctgccggacatccgcggcgtgccagggaccgagcctgagaaagacccggggccg
cgggcctag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (31)   
   RefSeq(nuc) (11)   
   GenBank (10)   
   EMBL (10)   
Protein domain (1)   
   Pfam (1)   
All databases (50)   

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