Homo sapiens (human): 9896
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Entry
9896 CDS
T01001
Symbol
FIG4, ALS11, 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)
Enzymes [BR:
hsa01000
]
3. Hydrolases
3.1 Acting on ester bonds
3.1.3 Phosphoric-monoester hydrolases
3.1.3.-
9896 (FIG4)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Syja_N
Motif
Other DBs
NCBI-GeneID:
9896
NCBI-ProteinID:
NP_055660
OMIM:
609390
HGNC:
16873
Ensembl:
ENSG00000112367
Vega:
OTTHUMG00000015352
Pharos:
Q92562
(Tbio)
UniProt:
Q92562
Structure
PDB
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All DBs
Position
6:109691296..109825426
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AA seq
907 aa
AA seq
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MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQ
QEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIG
GHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLT
VLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKS
TVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVE
TEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALH
FDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK
YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTG
ILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDT
LSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHP
TEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLI
VKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDE
TGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVK
MTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS
RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYRE
YIRNRYL
NT seq
2724 nt
NT seq
+upstream
nt +downstream
nt
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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