Homo sapiens (human): 79083
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Entry
79083 CDS
T01001
Symbol
MLPH, SLAC2-A
Name
(RefSeq) melanophilin
KO
K22235
melanophilin
Organism
hsa
Homo sapiens (human)
Disease
H02022
Griscelli syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
79083 (MLPH)
Membrane trafficking [BR:
hsa04131
]
Exocytosis
Small GTPases and associated proteins
Rab associated proteins
79083 (MLPH)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
FYVE_2
Rab_eff_C
FYVE
Motif
Other DBs
NCBI-GeneID:
79083
NCBI-ProteinID:
NP_077006
OMIM:
606526
HGNC:
29643
Ensembl:
ENSG00000115648
UniProt:
Q9BV36
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Position
2:237486410..237555322
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AA seq
600 aa
AA seq
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MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLN
ETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEW
YYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQ
PFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHK
AEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRN
EQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLEN
TVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAE
SEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKA
MAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS
NT seq
1803 nt
NT seq
+upstream
nt +downstream
nt
atggggaagaaactggatctttccaagctcactgatgaagaggcccagcatgtcttggaa
gttgttcaacgagattttgacctccgaaggaaagaagaggaacggctagaggcgttgaag
ggcaagattaagaaggaaagctccaagagggagctgctttccgacactgcccatctgaac
gagacccactgcgcccgctgcctgcagccctaccagctgcttgtgaatagcaaaaggcag
tgcctggaatgtggcctcttcacctgcaaaagctgtggccgcgtccacccggaggagcag
ggctggatctgtgacccctgccatctggccagagtcgtgaagatcggctcactggagtgg
tactatgagcatgtgaaagcccgcttcaagaggttcggaagtgccaaggtcatccggtcc
ctccacgggcggctgcagggtggagctgggcctgaactgatatctgaagagagaagtgga
gacagcgaccagacagatgaggatggagaacctggctcagaggcccaggcccaggcccag
ccctttggcagcaaaaaaaagcgcctcctctccgtccacgacttcgacttcgagggagac
tcagatgactccactcagcctcaaggtcactccctgcacctgtcctcagtccctgaggcc
agggacagcccacagtccctcacagatgagtcctgctcagagaaggcagcccctcacaag
gctgagggcctggaggaggctgatactggggcctctgggtgccactcccatccggaagag
cagccgaccagcatctcaccttccagacacggcgccctggctgagctctgcccgcctgga
ggctcccacaggatggccctggggactgctgctgcactcgggtcgaatgtcatcaggaat
gagcagctgcccctgcagtacttggccgatgtggacacctctgatgaggaaagcatccgg
gctcacgtgatggcctcccaccattccaagcggagaggccgggcgtcttctgagagtcag
atctttgagctgaataagcatatttcagctgtggaatgcctgctgacctacctggagaac
acagttgtgcctcccttggccaagggtctaggtgctggagtgcgcacggaggccgatgta
gaggaggaggccctgaggaggaagctggaggagctgaccagcaacgtcagtgaccaggag
acctcgtccgaggaggaggaagccaaggacgaaaaggcagagcccaacagggacaaatca
gttgggcctctcccccaggcggacccggaggtgggcacggctgcccatcaaaccaacaga
caggaaaaaagcccccaggaccctggggaccccgtccagtacaacaggaccacagatgag
gagctgtcagagctggaggacagagtggcagtgacggcctcagaagtccagcaggcagag
agcgaggtttcagacattgaatccaggattgcagccctgagggccgcagggctcacggtg
aagccctcgggaaagccccggaggaagtcaaacctcccgatatttctccctcgagtggct
gggaaacttggcaagagaccagaggacccaaatgcagacccttcaagtgaggccaaggca
atggctgtgccctatcttctgagaagaaagttcagtaattccctgaaaagtcaaggtaaa
gatgatgattcttttgatcggaaatcagtgtaccgaggctcgctgacacagagaaacccc
aacgcgaggaaaggaatggccagccacaccttcgcgaaacctgtggtggcccaccagtcc
taa
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