KEGG   Homo sapiens (human): 9896
Entry
9896              CDS       T01001                                 
Symbol
FIG4, ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1
Name
(RefSeq) FIG4 phosphoinositide 5-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
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
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)
 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 DUF1892
Other DBs
NCBI-GeneID: 9896
NCBI-ProteinID: NP_055660
OMIM: 609390
HGNC: 16873
Ensembl: ENSG00000112367
UniProt: Q92562
Structure
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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