KEGG   Homo sapiens (human): 84062
Entry
84062             CDS       T01001                                 
Symbol
DTNBP1, BLOC1S8, DBND, HPS7, My031, SDY
Name
(RefSeq) dystrobrevin binding protein 1
  KO
K20189  dysbindin
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]
    84062 (DTNBP1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   BLOC-1 complex
    84062 (DTNBP1)
SSDB
Motif
Pfam: Dysbindin Peptidase_S46 Exonuc_VII_L DUF2730
Other DBs
NCBI-GeneID: 84062
NCBI-ProteinID: NP_115498
OMIM: 607145
HGNC: 17328
Ensembl: ENSG00000047579
UniProt: Q96EV8 A0A0S2Z5U8
Position
6:complement(15522807..15663058)
AA seq 351 aa
MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWA
ALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTH
LEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQK
VLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQ
MDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS
TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS
NT seq 1056 nt   +upstreamnt  +downstreamnt
atgctggagacccttcgcgagcggctgctgagcgtgcagcaggatttcacctccgggctg
aagactttaagtgacaagtcaagagaagcaaaagtgaaaagcaaacccaggactgttcca
tttttgccaaagtactctgctggattagaattacttagcaggtatgaggatacatgggct
gcacttcacagaagagccaaagactgtgcaagtgctggagagctggtggatagcgaggtg
gtcatgctttctgcgcactgggagaagaaaaagacaagcctcgtggagctgcaagagcag
ctccagcagctcccagctttaatcgcagacttagaatccatgacagcaaatctgactcat
ttagaggcgagttttgaggaggtagagaacaacctgctgcatctggaagacttatgtggg
cagtgtgaattagaaagatgcaaacatatgcagtcccagcaactggagaattacaagaaa
aataagaggaaggaacttgaaaccttcaaagctgaactagatgcagagcacgcccagaag
gtcctggaaatggagcacacccagcaaatgaagctgaaggagcggcagaagttttttgag
gaagccttccagcaggacatggagcagtacctgtccactggctacctgcagattgcagag
cggcgagagcccataggcagcatgtcatccatggaagtgaacgtggacatgctggagcag
atggacctgatggacatatcggaccaggaggccctggacgtcttcctgaactctggagga
gaagagaacactgtgctgtcccccgccttagggcctgaatccagtacctgtcagaatgag
attaccctccaggttccaaatccctcagaattaagagccaagccaccttcttcttcctcc
acctgcaccgactcggccacccgggacatcagtgagggtggggagtcccccgttgttcag
tccgatgaggaggaagttcaggtggacactgccctggccacatcacacactgacagagag
gccactccggatggtggtgaggacagcgactcttaa

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