KEGG   Homo sapiens (human): 9896
Entry
9896              CDS       T01001                                 
Symbol
FIG4, ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1
Name
(RefSeq) polyphosphoinositide phosphatase
  KO
K22913  phosphatidylinositol 3,5-bisphosphate 5-phosphatase [EC:3.1.3.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04142  Lysosome biogenesis
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06551  Lysosome
  Element
N02035  PI(3,5)P2 regulation by the PIKfyve complex
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00264  Charcot-Marie-Tooth disease
H00271  Polymicrogyria
H02127  Yunis-Varon syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    9896 (FIG4)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    9896 (FIG4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9896 (FIG4)
   05022 Pathways of neurodegeneration - multiple diseases
    9896 (FIG4)
SSDB
Motif
Pfam: Syja_N
Other DBs
NCBI-GeneID: 9896
NCBI-ProteinID: NP_055660
OMIM: 609390
HGNC: 16873
Ensembl: ENSP00000230124.4
UniProt: Q92562
Structure
LinkDB
Position
6:109691296..109825426
AA seq 907 aa
MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQ
QEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIG
GHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLT
VLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKS
TVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVE
TEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALH
FDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK
YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTG
ILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDT
LSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHP
TEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLI
VKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDE
TGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVK
MTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS
RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYRE
YIRNRYL
NT seq 2724 nt   +upstreamnt  +downstreamnt
atgcccacggccgccgcccccatcatcagctcggtccagaagctggttctgtatgagact
agagctagatactttctagttgggagcaataatgcagaaacgaaatatcgtgtcttgaag
attgatagaacagaaccaaaagatttggtcataattgatgacaggcatgtctatactcaa
caagaagtaagggaacttcttggccgcttggatcttggaaatagaacaaagatgggacag
aaaggatcctcgggcttatttcgagcggtttcagcttttggtgttgtgggttttgtcagg
ttcttagaaggctattatattgtgttaataactaaaaggaggaagatggcggatattgga
ggtcatgcaatctataaggtcgaagatacaaatatgatctatatacccaatgattctgta
cgggttactcatcctgatgaagctaggtatctacgaatatttcaaaatgtggacctatct
agcaatttttactttagttacagctatgatttgtcccactcacttcaatataatctcact
gtcttgcgaatgcccctggagatgttaaagtcagaaatgacccagaatcgccaagagagc
tttgacatctttgaagatgaaggattaattacacaaggtggaagcggggtatttgggatc
tgtagtgagccttatatgaaatatgtatggaatggtgaacttctggatataattaaaagt
actgtgcatcgtgactggcttttgtatattattcatgggttctgtgggcagtcaaagctg
ttgatctatggacgaccagtgtatgtcactctaatagctagaagatccagtaaatttgct
ggcacccgttttcttaaaagaggtgcaaactgtgagggtgatgttgcaaatgaagtggag
actgaacaaatactctgcgatgcttctgtgatgtctttcactgcaggaagttattcttca
tatgtacaagttagaggatctgtgcccttatactggtctcaggacatttcaactatgatg
cctaaaccacctattacattggatcaggcagatccatttgcacatgtggctgcccttcac
tttgaccagatgttccagaggtttggctctcccatcatcatcttgaatttagtgaaggaa
cgagagaaaagaaagcatgaaagaattctgagtgaagaacttgttgctgctgtgacctat
ctcaaccaatttttgcctcctgagcacactattgtttatattccctgggacatggccaag
tataccaaaagcaagctgtgtaatgttcttgatcgactaaatgtgattgcagaaagtgtg
gtgaagaaaacaggtttctttgtaaaccgccctgattcttactgtagcattttgcggcca
gatgaaaagtggaatgaactaggaggatgtgtgattcccactggtcgcctgcagactggc
atccttcgaaccaactgtgtggactgtttagatcgcaccaacacagcacagtttatggtg
ggaaaatgtgctctggcctatcagctgtattcactgggactgattgacaaacctaatcta
cagtttgatacagatgcagttaggttatttgaggaactctatgaagatcatggtgatacc
ctatcccttcagtatggtggttctcaacttgttcatcgtgtgaaaacctacagaaagata
gcaccatggacccagcactccaaagacatcatgcaaaccctgtctagatattacagcaat
gctttttcagatgccgatagacaagattccattaatctcttcctgggagttttccatccc
actgaagggaaacctcatctctgggagctcccaacagatttttatttgcatcacaaaaat
accatgagacttttgccaacaagaagaagttatacttactggtggacaccagaggtgata
aagcatttaccattgccctatgatgaagttatctgtgctgtgaacttaaagaagttgata
gtgaagaaattccacaaatatgaagaagagattgatatccacaatgagttctttcggcca
tatgagttgagcagctttgatgataccttttgcttggctatgacaagctcagcacgtgac
tttatgcctaagaccgttggaattgatccaagtccatttactgtgcgtaaaccagatgaa
actggaaaatcagtattgggaaacaaaagcaatagagaagaagctgtattacagcggaaa
acggcagccagcgccccgccgccccccagcgaggaggctgtgtccagcagctctgaggat
gactctgggactgatcgggaagaagagggctctgtgtctcagcgctccactcccgtgaag
atgactgatgcaggagacagtgccaaagtgaccgagaatgtggtccaacccatgaaggag
ctatatggaattaacctctcagatggcctctcagaagaagatttctccatttattcaaga
tttgttcagctggggcagagtcaacataaacaagacaagaatagccagcagccctgttct
aggtgctcagatggagttataaaactaacacccatctcggctttctcgcaagataacatc
tatgaagttcagcccccaagagtagacagaaaatctacagagatcttccaagcccacatc
caggccagccaaggtatcatgcagcccctaggaaaagaggactcctccatgtaccgagag
tacatcaggaaccgctacctgtga

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