full name
synaptojanin 1
synonyms
INPP5G, SYNJ1, ENSG00000159082
HGNC
HGNC:11503
Entrez Gene
Gene:8867
ENSEMBL
ENSG00000159082
location
chr: 21
start: 33997269
stop: 34100351
strand: -
OMIM
OMIM:604297:
SYNJ1
OMIM:617389:
Epileptic encephalopathy, early infantile, 53
OMIM:615530:
Parkinson disease 20, early-onset
transcripts
NM_003895.3
NM_203446.2
NM_001160302.1
NM_001160306.1
pathways
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
[NCBI:545332]
[BIOCYC:HUMAN_PWY-6362]
[PUBMED:1371119]
[PUBMED:10390371]
[PUBMED:9334307]
[PUBMED:2584198]
[PUBMED:15531582]
[PUBMED:10683435]
[PUBMED:9838040]
[PUBMED:1849645]
[PUBMED:3426614]
[PUBMED:3010126]
[PUBMED:1684044]
[PUBMED:8435066]
[PUBMED:9114007]
[PUBMED:7814377]
[PUBMED:7829485]
[PUBMED:12223481]
3-phosphoinositide degradation
[NCBI:545349]
[BIOCYC:HUMAN_PWY-6368]
Clathrin-mediated endocytosis
[NCBI:1427858]
[REACTOME:R-HSA-8856828]
[PUBMED:16516836]
[PUBMED:15339664]
[PUBMED:19754444]
[PUBMED:8552632]
[PUBMED:21779028]
[PUBMED:12353027]
[PUBMED:23891661]
[PUBMED:21613550]
[PUBMED:20059951]
[PUBMED:21447041]
[PUBMED:17620409]
[PUBMED:16903783]
[PUBMED:21445324]
[PUBMED:19696798]
[PUBMED:26246598]
[PUBMED:25085911]
[PUBMED:24186068]
[PUBMED:26829388]
[PUBMED:27092250]
[PUBMED:24581490]
[PUBMED:26042225]
[PUBMED:23823722]
[PUBMED:24789820]
[PUBMED:9736607]
[PUBMED:23637288]
[PUBMED:22233676]
[PUBMED:19458185]
[PUBMED:26403691]
[PUBMED:19296720]
[PUBMED:15703209]
[PUBMED:20428113]
[PUBMED:8953040]
[PUBMED:1177317]
[PUBMED:9092476]
[PUBMED:26872272]
[PUBMED:19092055]
D-myo-inositol (1,3,4)-trisphosphate biosynthesis
[NCBI:545328]
[BIOCYC:HUMAN_PWY-6364]
[PUBMED:3010126]
[PUBMED:1659392]
[PUBMED:6285891]
[PUBMED:6095097]
[PUBMED:7637787]
[PUBMED:9038348]
D-myo-inositol (1,4,5)-trisphosphate degradation
[NCBI:545327]
[BIOCYC:HUMAN_PWY-6363]
[PUBMED:6285891]
[PUBMED:6095097]
EPHB forward signaling
[NCBI:138047]
[Pathway Interaction Database:ephbfwdpathway]
[PUBMED:8808709]
[PUBMED:11780069]
[PUBMED:11585923]
[PUBMED:10644995]
[PUBMED:12223469]
[PUBMED:15351694]
[PUBMED:12973357]
[PUBMED:15107421]
[PUBMED:9233798]
[PUBMED:7973638]
[PUBMED:12389031]
[PUBMED:15536074]
[PUBMED:8755474]
[PUBMED:9430661]
[PUBMED:12546821]
[PUBMED:15107857]
[PUBMED:14500293]
[PUBMED:12925710]
[PUBMED:8878483]
[PUBMED:8918835]
[PUBMED:10669731]
[PUBMED:10570155]
[PUBMED:8761303]
[PUBMED:12408869]
[PUBMED:15821731]
[PUBMED:12475948]
Inositol phosphate metabolism
[NCBI:82987]
[KEGG:hsa00562]
[NCBI:1269988]
[REACTOME:R-HSA-1483249]
[PUBMED:17943301]
[PUBMED:18310071]
[PUBMED:20414202]
[PUBMED:11331907]
[PUBMED:20359876]
[PUBMED:14993306]
[PUBMED:16781889]
Internalization of ErbB1
[NCBI:138013]
[Pathway Interaction Database:erbb1_internalization_pathway]
[PUBMED:9733512]
[PUBMED:9950686]
[PUBMED:12839496]
[PUBMED:10953014]
[PUBMED:17052190]
[PUBMED:15212941]
[PUBMED:19460345]
[PUBMED:18316398]
[PUBMED:11823423]
[PUBMED:18657070]
[PUBMED:12242303]
[PUBMED:17940017]
[PUBMED:15465819]
[PUBMED:17121848]
[PUBMED:15772153]
[PUBMED:18508924]
[PUBMED:18031739]
[PUBMED:16914641]
[PUBMED:11408594]
[PUBMED:11099046]
[PUBMED:16543144]
[PUBMED:11703925]
[PUBMED:11894095]
[PUBMED:15282549]
[PUBMED:9851973]
[PUBMED:16554368]
[PUBMED:12897150]
[PUBMED:11983899]
[PUBMED:18362181]
[PUBMED:15475003]
[PUBMED:12631709]
[PUBMED:15701692]
[PUBMED:16862145]
[PUBMED:16735510]
[PUBMED:18694561]
[PUBMED:14505571]
[PUBMED:10567412]
[PUBMED:15635092]
[PUBMED:15210722]
[PUBMED:16892055]
[PUBMED:1645724]
[PUBMED:16407834]
[PUBMED:17363458]
[PUBMED:16382132]
[PUBMED:10428778]
[PUBMED:15314065]
[PUBMED:16120644]
[PUBMED:7925272]
[PUBMED:12234920]
[PUBMED:8175702]
[PUBMED:10085141]
[PUBMED:11375397]
[PUBMED:10635327]
[PUBMED:19723633]
[PUBMED:10788520]
[PUBMED:12218189]
[PUBMED:19054389]
Membrane Trafficking
[NCBI:1269877]
[REACTOME:R-HSA-199991]
[PUBMED:11031247]
Metabolic pathways
[NCBI:132956]
[KEGG:hsa01100]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins
[NCBI:1270001]
[REACTOME:R-HSA-556833]
PI Metabolism
[NCBI:1270073]
[REACTOME:R-HSA-1483255]
[PUBMED:17035995]
[PUBMED:18216768]
[PUBMED:17330069]
[PUBMED:15170460]
[PUBMED:16828287]
[PUBMED:18726176]
[PUBMED:20861159]
[PUBMED:19196647]
[PUBMED:20043944]
[PUBMED:20192774]
[PUBMED:18784754]
[PUBMED:20559318]
[PUBMED:18216767]
[PUBMED:17605038]
[PUBMED:15269334]
Phosphatidylinositol signaling system
[NCBI:83052]
[KEGG:hsa04070]
[PUBMED:19439500]
[PUBMED:19580826]
Phospholipid metabolism
[NCBI:1270053]
[REACTOME:R-HSA-1483257]
[PUBMED:9242906]
Synthesis of IP2, IP, and Ins in the cytosol
[NCBI:1270000]
[REACTOME:R-HSA-1855183]
[PUBMED:17068342]
[PUBMED:20414202]
[PUBMED:11331907]
[PUBMED:15024000]
Synthesis of IP3 and IP4 in the cytosol
[NCBI:1269989]
[REACTOME:R-HSA-1855204]
[PUBMED:11331907]
[PUBMED:20414202]
Synthesis of PIPs at the plasma membrane
[NCBI:1270077]
[REACTOME:R-HSA-1660499]
[PUBMED:16399794]
[PUBMED:12646134]
[PUBMED:10224048]
[PUBMED:9113989]
[PUBMED:9211928]
[PUBMED:12536145]
[PUBMED:22647598]
[PUBMED:11733541]
[PUBMED:9660759]
[PUBMED:19896968]
Vesicle-mediated transport
[NCBI:1269876]
[REACTOME:R-HSA-5653656]
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
[NCBI:545325]
[BIOCYC:HUMAN_PWY-6358]
superpathway of inositol phosphate compounds
[NCBI:547492]
[BIOCYC:HUMAN_PWY-6371]
