UniProtKB - O43426 (SYNJ1_HUMAN)
Synaptojanin-1
SYNJ1
Functioni
Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091).
Has a role in clathrin-mediated endocytosis (By similarity).
Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).
By similarity1 PublicationCatalytic activityi
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphateEC:3.1.3.36
GO - Molecular functioni
- EH domain binding Source: Ensembl
- inositol-1,4,5-trisphosphate 5-phosphatase activity Source: Reactome
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Source: Reactome
- phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity Source: Reactome
- phosphatidylinositol-3-phosphatase activity Source: ParkinsonsUK-UCL
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity Source: ParkinsonsUK-UCL
- phosphatidylinositol-4-phosphate phosphatase activity Source: ParkinsonsUK-UCL
- phosphatidylinositol phosphate 4-phosphatase activity Source: Reactome
- phosphatidylinositol phosphate 5-phosphatase activity Source: ParkinsonsUK-UCL
- protein-containing complex binding Source: Ensembl
- protein C-terminus binding Source: Ensembl
- RNA binding Source: UniProtKB-KW
- SH3 domain binding Source: GO_Central
GO - Biological processi
- brain development Source: GO_Central
- inositol phosphate dephosphorylation Source: ParkinsonsUK-UCL
- inositol phosphate metabolic process Source: Reactome
- learning Source: ParkinsonsUK-UCL
- membrane organization Source: Reactome
- neurotransmitter transport Source: ParkinsonsUK-UCL
- phosphatidylinositol biosynthetic process Source: Reactome
- phosphatidylinositol dephosphorylation Source: ParkinsonsUK-UCL
- phosphatidylinositol metabolic process Source: ParkinsonsUK-UCL
- positive regulation of endosome organization Source: ParkinsonsUK-UCL
- positive regulation of gliogenesis Source: Ensembl
- positive regulation of receptor-mediated endocytosis Source: Ensembl
- response to cytokine Source: Ensembl
- response to retinoic acid Source: Ensembl
- synaptic vesicle endocytosis Source: ParkinsonsUK-UCL
- synaptic vesicle priming Source: ParkinsonsUK-UCL
- synaptic vesicle transport Source: ParkinsonsUK-UCL
- synaptic vesicle uncoating Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Hydrolase, RNA-binding |
Biological process | Endocytosis, Lipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | O43426 |
Reactomei | R-HSA-1660499, Synthesis of PIPs at the plasma membrane R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol R-HSA-8856828, Clathrin-mediated endocytosis |
SignaLinki | O43426 |
SIGNORi | O43426 |
Names & Taxonomyi
Protein namesi | Recommended name: Synaptojanin-1 (EC:3.1.3.36)Alternative name(s): Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1 |
Gene namesi | Name:SYNJ1 Synonyms:KIAA0910 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11503, SYNJ1 |
MIMi | 604297, gene |
neXtProti | NX_O43426 |
VEuPathDBi | HostDB:ENSG00000159082 |
Subcellular locationi
Other locations
- perinuclear region By similarity
Cytoskeleton
- microtubule Source: Ensembl
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- clathrin coat of coated pit Source: BHF-UCL
- synaptic membrane Source: BHF-UCL
Other locations
- membrane coat Source: ParkinsonsUK-UCL
- parallel fiber to Purkinje cell synapse Source: Ensembl
- perinuclear region of cytoplasm Source: UniProtKB
- presynapse Source: ParkinsonsUK-UCL
- terminal bouton Source: ParkinsonsUK-UCL
- vesicle membrane Source: ParkinsonsUK-UCL
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Parkinson disease 20, early-onset (PARK20)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070905 | 219 | R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 PublicationsCorresponds to variant dbSNP:rs398122403EnsemblClinVar. | 1 | |
Natural variantiVAR_078803 | 420 | R → P in PARK20. 1 PublicationCorresponds to variant dbSNP:rs1060499619EnsemblClinVar. | 1 | |
Natural variantiVAR_070906 | 1383 | S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 PublicationCorresponds to variant dbSNP:rs769099271Ensembl. | 1 |
Developmental and epileptic encephalopathy 53 (DEE53)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078804 | 849 | Y → C in DEE53; decreased inositol phosphate phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs1057524877EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Neurodegeneration, Parkinson disease, ParkinsonismOrganism-specific databases
DisGeNETi | 8867 |
MalaCardsi | SYNJ1 |
MIMi | 615530, phenotype 617389, phenotype |
OpenTargetsi | ENSG00000159082 |
Orphaneti | 391411, Atypical juvenile parkinsonism 442835, Non-specific early-onset epileptic encephalopathy 2828, Young-onset Parkinson disease |
PharmGKBi | PA36285 |
Miscellaneous databases
Pharosi | O43426, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4523136 |
Genetic variation databases
BioMutai | SYNJ1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000209730 | 1 – 1573 | Synaptojanin-1Add BLAST | 1573 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 820 | PhosphoserineBy similarity | 1 | |
Modified residuei | 830 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1053 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1150 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1178 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1201 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 1220 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1292 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1318 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1345 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1349 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 1551 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1565 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | O43426 |
jPOSTi | O43426 |
MassIVEi | O43426 |
MaxQBi | O43426 |
PaxDbi | O43426 |
PeptideAtlasi | O43426 |
PRIDEi | O43426 |
ProteomicsDBi | 48937 [O43426-1] 48938 [O43426-2] 48939 [O43426-4] 48940 [O43426-5] |
PTM databases
DEPODi | SYNJ1 |
GlyGeni | O43426, 5 sites, 1 O-linked glycan (5 sites) |
iPTMneti | O43426 |
MetOSitei | O43426 |
PhosphoSitePlusi | O43426 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000159082, Expressed in Brodmann (1909) area 23 and 234 other tissues |
ExpressionAtlasi | O43426, baseline and differential |
Genevisiblei | O43426, HS |
Organism-specific databases
HPAi | ENSG00000159082, Tissue enhanced (brain, retina) |
Interactioni
Subunit structurei
GO - Molecular functioni
- EH domain binding Source: Ensembl
- protein C-terminus binding Source: Ensembl
- SH3 domain binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 114388, 55 interactors |
ELMi | O43426 |
IntActi | O43426, 16 interactors |
MINTi | O43426 |
STRINGi | 9606.ENSP00000409667 |
Miscellaneous databases
RNActi | O43426, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43426 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O43426 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 119 – 442 | SACPROSITE-ProRule annotationAdd BLAST | 324 | |
Domaini | 902 – 971 | RRMPROSITE-ProRule annotationAdd BLAST | 70 | |
Repeati | 1396 – 1398 | 1 | 3 | |
Repeati | 1406 – 1408 | 2 | 3 | |
Repeati | 1417 – 1419 | 3 | 3 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 500 – 899 | CatalyticSequence analysisAdd BLAST | 400 | |
Regioni | 1029 – 1322 | DisorderedSequence analysisAdd BLAST | 294 | |
Regioni | 1341 – 1360 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1370 – 1463 | DisorderedSequence analysisAdd BLAST | 94 | |
Regioni | 1396 – 1419 | 3 X 3 AA repeats of N-P-FAdd BLAST | 24 | |
Regioni | 1535 – 1573 | DisorderedSequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1029 – 1059 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 1065 – 1079 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1095 – 1134 | Pro residuesSequence analysisAdd BLAST | 40 | |
Compositional biasi | 1216 – 1237 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 1242 – 1261 | Pro residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 1269 – 1291 | Pro residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 1292 – 1312 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1370 – 1410 | Polar residuesSequence analysisAdd BLAST | 41 | |
Compositional biasi | 1443 – 1463 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1535 – 1554 | Pro residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 1555 – 1573 | Polar residuesSequence analysisAdd BLAST | 19 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0566, Eukaryota |
GeneTreei | ENSGT00940000157964 |
InParanoidi | O43426 |
OMAi | ELCTTNT |
OrthoDBi | 359616at2759 |
PhylomeDBi | O43426 |
Family and domain databases
CDDi | cd12719, RRM_SYNJ1, 1 hit |
Gene3Di | 3.30.70.330, 1 hit 3.60.10.10, 1 hit |
InterProi | View protein in InterPro IPR036691, Endo/exonu/phosph_ase_sf IPR005135, Endo/exonuclease/phosphatase IPR000300, IPPc IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom IPR002013, SAC_dom IPR034972, SYNJ1 IPR015047, SYNJ1/2_RRM IPR034971, SYNJ1_RRM |
PANTHERi | PTHR11200:SF158, PTHR11200:SF158, 1 hit |
Pfami | View protein in Pfam PF08952, DUF1866, 1 hit PF03372, Exo_endo_phos, 1 hit PF02383, Syja_N, 1 hit |
SMARTi | View protein in SMART SM01165, DUF1866, 1 hit SM00128, IPPc, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit SSF56219, SSF56219, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50275, SAC, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAFSKGFRIY HKLDPPPFSL IVETRHKEEC LMFESGAVAV LSSAEKEAIK
60 70 80 90 100
GTYSKVLDAY GLLGVLRLNL GDTMLHYLVL VTGCMSVGKI QESEVFRVTS
110 120 130 140 150
TEFISLRIDS SDEDRISEVR KVLNSGNFYF AWSASGISLD LSLNAHRSMQ
160 170 180 190 200
EQTTDNRFFW NQSLHLHLKH YGVNCDDWLL RLMCGGVEIR TIYAAHKQAK
210 220 230 240 250
ACLISRLSCE RAGTRFNVRG TNDDGHVANF VETEQVVYLD DSVSSFIQIR
260 270 280 290 300
GSVPLFWEQP GLQVGSHRVR MSRGFEANAP AFDRHFRTLK NLYGKQIIVN
310 320 330 340 350
LLGSKEGEHM LSKAFQSHLK ASEHAADIQM VNFDYHQMVK GGKAEKLHSV
360 370 380 390 400
LKPQVQKFLD YGFFYFNGSE VQRCQSGTVR TNCLDCLDRT NSVQAFLGLE
410 420 430 440 450
MLAKQLEALG LAEKPQLVTR FQEVFRSMWS VNGDSISKIY AGTGALEGKA
460 470 480 490 500
KLKDGARSVT RTIQNNFFDS SKQEAIDVLL LGNTLNSDLA DKARALLTTG
510 520 530 540 550
SLRVSEQTLQ SASSKVLKSM CENFYKYSKP KKIRVCVGTW NVNGGKQFRS
560 570 580 590 600
IAFKNQTLTD WLLDAPKLAG IQEFQDKRSK PTDIFAIGFE EMVELNAGNI
610 620 630 640 650
VSASTTNQKL WAVELQKTIS RDNKYVLLAS EQLVGVCLFV FIRPQHAPFI
660 670 680 690 700
RDVAVDTVKT GMGGATGNKG AVAIRMLFHT TSLCFVCSHF AAGQSQVKER
710 720 730 740 750
NEDFIEIARK LSFPMGRMLF SHDYVFWCGD FNYRIDLPNE EVKELIRQQN
760 770 780 790 800
WDSLIAGDQL INQKNAGQVF RGFLEGKVTF APTYKYDLFS DDYDTSEKCR
810 820 830 840 850
TPAWTDRVLW RRRKWPFDRS AEDLDLLNAS FQDESKILYT WTPGTLLHYG
860 870 880 890 900
RAELKTSDHR PVVALIDIDI FEVEAEERQN IYKEVIAVQG PPDGTVLVSI
910 920 930 940 950
KSSLPENNFF DDALIDELLQ QFASFGEVIL IRFVEDKMWV TFLEGSSALN
960 970 980 990 1000
VLSLNGKELL NRTITIALKS PDWIKNLEEE MSLEKISIAL PSSTSSTLLG
1010 1020 1030 1040 1050
EDAEVAADFD MEGDVDDYSA EVEELLPQHL QPSSSSGLGT SPSSSPRTSP
1060 1070 1080 1090 1100
CQSPTISEGP VPSLPIRPSR APSRTPGPPS AQSSPIDAQP ATPLPQKDPA
1110 1120 1130 1140 1150
QPLEPKRPPP PRPVAPPTRP APPQRPPPPS GARSPAPTRK EFGGIGAPPS
1160 1170 1180 1190 1200
PGVARREMEA PKSPGTTRKD NIGRSQPSPQ AGLAGPGPAG YSTARPTIPP
1210 1220 1230 1240 1250
RAGVISAPQS HARASAGRLT PESQSKTSET SKGSTFLPEP LKPQAAFPPQ
1260 1270 1280 1290 1300
SSLPPPAQRL QEPLVPVAAP MPQSGPQPNL ETPPQPPPRS RSSHSLPSEA
1310 1320 1330 1340 1350
SSQPQVKTNG ISDGKRESPL KIDPFEDLSF NLLAVSKAQL SVQTSPVPTP
1360 1370 1380 1390 1400
DPKRLIQLPS ATQSNVLSSV SCMPTMPPIP ARSQSQENMR SSPNPFITGL
1410 1420 1430 1440 1450
TRTNPFSDRT AAPGNPFRAK SEESEATSWF SKEEPVTISP FPSLQPLGHN
1460 1470 1480 1490 1500
KSRASSSLDG FKDSFDLQGQ STLKISNPKG WVTFEEEEDF GVKGKSKSAC
1510 1520 1530 1540 1550
SDLLGNQPSS FSGSNLTLND DWNKGTNVSF CVLPSRRPPP PPVPLLPPGT
1560 1570
SPPVDPFTTL ASKASPTLDF TER
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KQV8 | J3KQV8_HUMAN | Phosphoinositide 5-phosphatase | SYNJ1 | 1,612 | Annotation score: | ||
C9JFZ1 | C9JFZ1_HUMAN | Phosphoinositide 5-phosphatase | SYNJ1 | 1,350 | Annotation score: | ||
A0A0D9SGJ6 | A0A0D9SGJ6_HUMAN | Phosphoinositide 5-phosphatase | SYNJ1 | 1,526 | Annotation score: | ||
J3KPK1 | J3KPK1_HUMAN | Phosphoinositide 5-phosphatase | SYNJ1 | 1,264 | Annotation score: | ||
C9JW66 | C9JW66_HUMAN | Phosphoinositide 5-phosphatase | SYNJ1 | 695 | Annotation score: | ||
C9J1Z6 | C9J1Z6_HUMAN | Synaptojanin-1 | SYNJ1 | 178 | Annotation score: | ||
H7BZC2 | H7BZC2_HUMAN | Synaptojanin-1 | SYNJ1 | 187 | Annotation score: | ||
H7BZ56 | H7BZ56_HUMAN | Synaptojanin-1 | SYNJ1 | 131 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1093 – 1108 | Missing in BAA74933 (PubMed:9428629).CuratedAdd BLAST | 16 | |
Sequence conflicti | 1366 | V → VNT in AAC51922 (PubMed:9428629).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070905 | 219 | R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 PublicationsCorresponds to variant dbSNP:rs398122403EnsemblClinVar. | 1 | |
Natural variantiVAR_047308 | 295 | K → R1 PublicationCorresponds to variant dbSNP:rs2254562EnsemblClinVar. | 1 | |
Natural variantiVAR_078803 | 420 | R → P in PARK20. 1 PublicationCorresponds to variant dbSNP:rs1060499619EnsemblClinVar. | 1 | |
Natural variantiVAR_078804 | 849 | Y → C in DEE53; decreased inositol phosphate phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs1057524877EnsemblClinVar. | 1 | |
Natural variantiVAR_078805 | 981 | M → I Likely benign variant; no effect on inositol phosphate phosphatase activity. 1 PublicationCorresponds to variant dbSNP:rs115683257EnsemblClinVar. | 1 | |
Natural variantiVAR_078806 | 1018 | Y → S Likely benign variant; no effect on inositol phosphate phosphatase activity. 1 Publication | 1 | |
Natural variantiVAR_047309 | 1366 | V → A. Corresponds to variant dbSNP:rs9980589Ensembl. | 1 | |
Natural variantiVAR_070906 | 1383 | S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 PublicationCorresponds to variant dbSNP:rs769099271Ensembl. | 1 | |
Natural variantiVAR_049603 | 1547 | P → L. Corresponds to variant dbSNP:rs2230767Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_035709 | 451 | K → KAGK in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_035710 | 504 – 511 | Missing in isoform 4. 1 Publication | 8 | |
Alternative sequenceiVSP_035711 | 525 – 1573 | Missing in isoform 4. 1 PublicationAdd BLAST | 1049 | |
Alternative sequenceiVSP_041578 | 1144 – 1159 | Missing in isoform 3. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_002682 | 1306 – 1311 | VKTNGI → QEQPSG in isoform 2 and isoform 3. 2 Publications | 6 | |
Alternative sequenceiVSP_002683 | 1312 – 1573 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 262 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF009039 mRNA Translation: AAC51921.1 AF009040 mRNA Translation: AAC51922.1 AB020717 mRNA Translation: BAA74933.2 Different initiation. AP000275 Genomic DNA No translation available. AP000276 Genomic DNA No translation available. AP000277 Genomic DNA No translation available. AP000278 Genomic DNA No translation available. AP000279 Genomic DNA No translation available. BC098395 mRNA Translation: AAH98395.1 |
CCDSi | CCDS33540.2 [O43426-2] CCDS54483.1 [O43426-4] |
RefSeqi | NP_001153774.1, NM_001160302.1 [O43426-4] NP_001153778.1, NM_001160306.1 NP_003886.3, NM_003895.3 NP_982271.2, NM_203446.2 [O43426-2] XP_016883989.1, XM_017028500.1 [O43426-2] |
Genome annotation databases
Ensembli | ENST00000357345; ENSP00000349903; ENSG00000159082 [O43426-4] ENST00000674204; ENSP00000501504; ENSG00000159082 [O43426-2] ENST00000674308; ENSP00000501426; ENSG00000159082 ENST00000674351; ENSP00000501530; ENSG00000159082 [O43426-2] |
GeneIDi | 8867 |
KEGGi | hsa:8867 |
MANE-Selecti | ENST00000674351.1; ENSP00000501530.1; NM_203446.3; NP_982271.3 [O43426-2] |
UCSCi | uc002yqf.2, human [O43426-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF009039 mRNA Translation: AAC51921.1 AF009040 mRNA Translation: AAC51922.1 AB020717 mRNA Translation: BAA74933.2 Different initiation. AP000275 Genomic DNA No translation available. AP000276 Genomic DNA No translation available. AP000277 Genomic DNA No translation available. AP000278 Genomic DNA No translation available. AP000279 Genomic DNA No translation available. BC098395 mRNA Translation: AAH98395.1 |
CCDSi | CCDS33540.2 [O43426-2] CCDS54483.1 [O43426-4] |
RefSeqi | NP_001153774.1, NM_001160302.1 [O43426-4] NP_001153778.1, NM_001160306.1 NP_003886.3, NM_003895.3 NP_982271.2, NM_203446.2 [O43426-2] XP_016883989.1, XM_017028500.1 [O43426-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1W80 | X-ray | 1.90 | P | 1477-1488 | [»] | |
Q | 1458-1469 | [»] | ||||
2DNR | NMR | - | A | 894-971 | [»] | |
2VJ0 | X-ray | 1.60 | P | 1477-1488 | [»] | |
7A0V | X-ray | 2.30 | A/C/E | 528-873 | [»] | |
SMRi | O43426 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114388, 55 interactors |
ELMi | O43426 |
IntActi | O43426, 16 interactors |
MINTi | O43426 |
STRINGi | 9606.ENSP00000409667 |
Chemistry databases
ChEMBLi | CHEMBL4523136 |
PTM databases
DEPODi | SYNJ1 |
GlyGeni | O43426, 5 sites, 1 O-linked glycan (5 sites) |
iPTMneti | O43426 |
MetOSitei | O43426 |
PhosphoSitePlusi | O43426 |
Genetic variation databases
BioMutai | SYNJ1 |
Proteomic databases
EPDi | O43426 |
jPOSTi | O43426 |
MassIVEi | O43426 |
MaxQBi | O43426 |
PaxDbi | O43426 |
PeptideAtlasi | O43426 |
PRIDEi | O43426 |
ProteomicsDBi | 48937 [O43426-1] 48938 [O43426-2] 48939 [O43426-4] 48940 [O43426-5] |
Protocols and materials databases
Antibodypediai | 2183, 156 antibodies from 27 providers |
DNASUi | 8867 |
Genome annotation databases
Ensembli | ENST00000357345; ENSP00000349903; ENSG00000159082 [O43426-4] ENST00000674204; ENSP00000501504; ENSG00000159082 [O43426-2] ENST00000674308; ENSP00000501426; ENSG00000159082 ENST00000674351; ENSP00000501530; ENSG00000159082 [O43426-2] |
GeneIDi | 8867 |
KEGGi | hsa:8867 |
MANE-Selecti | ENST00000674351.1; ENSP00000501530.1; NM_203446.3; NP_982271.3 [O43426-2] |
UCSCi | uc002yqf.2, human [O43426-1] |
Organism-specific databases
CTDi | 8867 |
DisGeNETi | 8867 |
GeneCardsi | SYNJ1 |
HGNCi | HGNC:11503, SYNJ1 |
HPAi | ENSG00000159082, Tissue enhanced (brain, retina) |
MalaCardsi | SYNJ1 |
MIMi | 604297, gene 615530, phenotype 617389, phenotype |
neXtProti | NX_O43426 |
OpenTargetsi | ENSG00000159082 |
Orphaneti | 391411, Atypical juvenile parkinsonism 442835, Non-specific early-onset epileptic encephalopathy 2828, Young-onset Parkinson disease |
PharmGKBi | PA36285 |
VEuPathDBi | HostDB:ENSG00000159082 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0566, Eukaryota |
GeneTreei | ENSGT00940000157964 |
InParanoidi | O43426 |
OMAi | ELCTTNT |
OrthoDBi | 359616at2759 |
PhylomeDBi | O43426 |
Enzyme and pathway databases
PathwayCommonsi | O43426 |
Reactomei | R-HSA-1660499, Synthesis of PIPs at the plasma membrane R-HSA-1855183, Synthesis of IP2, IP, and Ins in the cytosol R-HSA-1855204, Synthesis of IP3 and IP4 in the cytosol R-HSA-8856828, Clathrin-mediated endocytosis |
SignaLinki | O43426 |
SIGNORi | O43426 |
Miscellaneous databases
BioGRID-ORCSi | 8867, 4 hits in 1043 CRISPR screens |
ChiTaRSi | SYNJ1, human |
EvolutionaryTracei | O43426 |
GenomeRNAii | 8867 |
Pharosi | O43426, Tbio |
PROi | PR:O43426 |
RNActi | O43426, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159082, Expressed in Brodmann (1909) area 23 and 234 other tissues |
ExpressionAtlasi | O43426, baseline and differential |
Genevisiblei | O43426, HS |
Family and domain databases
CDDi | cd12719, RRM_SYNJ1, 1 hit |
Gene3Di | 3.30.70.330, 1 hit 3.60.10.10, 1 hit |
InterProi | View protein in InterPro IPR036691, Endo/exonu/phosph_ase_sf IPR005135, Endo/exonuclease/phosphatase IPR000300, IPPc IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR000504, RRM_dom IPR002013, SAC_dom IPR034972, SYNJ1 IPR015047, SYNJ1/2_RRM IPR034971, SYNJ1_RRM |
PANTHERi | PTHR11200:SF158, PTHR11200:SF158, 1 hit |
Pfami | View protein in Pfam PF08952, DUF1866, 1 hit PF03372, Exo_endo_phos, 1 hit PF02383, Syja_N, 1 hit |
SMARTi | View protein in SMART SM01165, DUF1866, 1 hit SM00128, IPPc, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit SSF56219, SSF56219, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50275, SAC, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SYNJ1_HUMAN | |
Accessioni | O43426Primary (citable) accession number: O43426 Secondary accession number(s): O43425, O94984, Q4KMR1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 23, 2022 | |
This is version 203 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families