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]