KEGG   Homo sapiens (human): 26258
Entry
26258             CDS       T01001                                 
Symbol
BLOC1S6, BLOS6, HPS9, PA, PALLID, PLDN
Name
(RefSeq) biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2
  KO
K20188  biogenesis of lysosome-related organelles complex 1 subunit 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00166  Hermansky-Pudlak syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    26258 (BLOC1S6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    26258 (BLOC1S6)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-1 complex
    26258 (BLOC1S6)
SSDB
Motif
Pfam: Snapin_Pallidin LigB TCP
Other DBs
NCBI-GeneID: 26258
NCBI-ProteinID: NP_036520
OMIM: 604310
HGNC: 8549
Ensembl: ENSP00000220531.4
UniProt: Q9UL45 B3KY40
Position
15:45587123..45609716
AA seq 172 aa
MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHY
LPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRK
EMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM
NT seq 519 nt   +upstreamnt  +downstreamnt
atgagtgtccctgggccgtcgtctccggacggggccctgacacggccaccctactgcctg
gaggccggggagccgacgcctggtttaagtgacacttctccagatgaagggttaatagag
gacttgactatagaagacaaagcagtggagcaactggcagaaggattgctttctcattat
ttgccagatctgcagagatcaaaacaagccctccaggaactcacacagaaccaagttgta
ttgttagacacactggaacaagagatttcaaaatttaaagaatgtcattctatgttggat
attaatgctttgtttgctgaggctaaacactatcatgccaagttggtgaatataagaaaa
gagatgctgatgcttcatgaaaaaacatcaaagttaaaaaaaagagcacttaaactgcag
cagaagaggcaaaaagaagagttggaaagggagcagcaacgagagaaggagtttgaaaga
gaaaagcagttaactgccagaccagccaaaaggatgtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (12)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (55)   
   RefSeq(nuc) (13)   
   GenBank (21)   
   EMBL (21)   
Protein domain (3)   
   Pfam (3)   
All databases (78)   

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