KEGG   Homo sapiens (human): 63915
Entry
63915             CDS       T01001                                 
Symbol
BLOC1S5, BLOS5, HPS11, MU, MUTED
Name
(RefSeq) biogenesis of lysosomal organelles complex 1 subunit 5
  KO
K20187  biogenesis of lysosome-related organelles complex 1 subunit 5
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]
    63915 (BLOC1S5)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-1 complex
    63915 (BLOC1S5)
SSDB
Motif
Pfam: Muted Prp19 TetR_C_29 ANIS5_cation-bd DUF6548
Other DBs
NCBI-GeneID: 63915
NCBI-ProteinID: NP_958437
OMIM: 607289
HGNC: 18561
Ensembl: ENSG00000188428
UniProt: Q8TDH9
Position
6:complement(8013567..8064414)
AA seq 187 aa
MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYF
VKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQ
QREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVDEEHRKAMERLKEQYAEMEKD
LAKFSTF
NT seq 564 nt   +upstreamnt  +downstreamnt
atgagtggcggagggacagagacccctgtgggttgtgaggccgccccgggcggtggcagc
aagaagagggactccctggggactgcgggctcagcgcacctcattatcaaggatcttgga
gaaattcattcaaggcttttggatcacagaccagttattcaaggtgaaactcgttatttt
gtaaaagaatttgaagaaaaacgtggtcttcgagaaatgcgagttcttgaaaatttgaag
aacatgatccatgaaacaaatgaacatactcttcccaaatgtagagacacaatgcgggac
agcctcagccaggttctccagagattgcaagcagctaatgactcagtctgtagactccaa
cagagggaacaggaacgaaaaaagattcatagtgaccacttagtagctagtgagaaacag
catatgctccagtgggacaacttcatgaaggagcaacccaacaaaagggctgaagtggat
gaagagcacagaaaagccatggaaaggcttaaagaacaatatgctgagatggagaaggac
ctagcgaaattttcaaccttttaa

  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 (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (27)   
   RefSeq(nuc) (3)   
   GenBank (12)   
   EMBL (12)   
Protein domain (5)   
   Pfam (5)   
All databases (52)   

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