• Gene id: 8867

Gene Summary

• Gene Symbol: SYNJ1   Gene   UCSC   Ensembl
• Aliases: EIEE53, INPP5G, PARK20
• Gene name: synaptojanin 1
• Alternate names: synaptojanin-1, inositol 5'-phosphatase (synaptojanin 1), inositol polyphosphate-5-phosphatase G, phosphoinositide 5-phosphatase, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1, synaptojanin-1, polyphosphoinositide phosphatase,
• Gene location: 21q22.11 (32731246: 32628758)     Exons: 34     NC_000021.9
• Gene summary(Entrez): This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding d
• OMIM: 604297

Protein Summary

• Protein general information: O43426  
  • Name: Synaptojanin 1 (EC 3.1.3.36) (Synaptic inositol 1,4,5 trisphosphate 5 phosphatase 1)
  • Length: 1573  
  • Mass: 173103
  • Tissue specificity: Concentrated at clathrin-coated endocytic intermediates in nerve terminals. Isoform 1 is more enriched than isoform 2 in developing brain as well as non-neuronal cells. Isoform 2 is very abundant in nerve terminals.
• Sequence:

  MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTML
  HYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQ
  EQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDG
  HVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVN
  LLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQ
  SGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKA
  KLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFY
  KYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNI
  VSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIR
  MLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQN
  WDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLD
  LLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSI
  KSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIK
  NLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSP
  CQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQR
  PPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPP
  RAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSG
  PQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTP
  DPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESE
  ATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSAC
  SDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER

• Structural information:
  • Protein Domains: (119..44-)
    (/note="SAC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00183-)
    (902..97-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR015047  IPR036691  IPR005135  IPR000300  IPR012677   IPR035979  IPR000504  IPR002013  IPR034972  IPR034971  
  • Prosite: PS50102 PS50275
  • CDD: cd12719
  • PDB: 1W80 2DNR 2VJ0
  • PDBsum: 1W80 2DNR 2VJ0
  • STRING: ENSP00000409667
• Other Databases: GeneCards:  SYNJ1  Malacards:  SYNJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004438	phosphatidylinositol-3-phosphatase activity	IDA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA	molecular function
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IDA	molecular function
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	ISS	molecular function
GO:0006836	neurotransmitter transport	ISS	biological process
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	ISS	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP	molecular function
GO:0012506	vesicle membrane	ISS	cellular component
GO:0043195	terminal bouton	ISS	cellular component
GO:0016082	synaptic vesicle priming	ISS	biological process
GO:0016191	synaptic vesicle uncoating	ISS	biological process
GO:0046488	phosphatidylinositol metabolic process	ISS	biological process
GO:0046855	inositol phosphate dephosphorylation	ISS	biological process
GO:0098793	presynapse	IDA	cellular component
GO:0007612	learning	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IDA	biological process
GO:0030117	membrane coat	ISS	cellular component
GO:1904980	positive regulation of endosome organization	IMP	biological process
GO:0048489	synaptic vesicle transport	ISS	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IMP	biological process
GO:0046856	phosphatidylinositol dephosphorylation	ISS	biological process
GO:0048488	synaptic vesicle endocytosis	ISS	biological process
GO:0048488	synaptic vesicle endocytosis	IGI	biological process
GO:0048488	synaptic vesicle endocytosis	ISS	biological process
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA	molecular function
GO:0007420	brain development	IBA	biological process
GO:0046856	phosphatidylinositol dephosphorylation	IBA	biological process
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0098793	presynapse	IBA	cellular component
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0046855	inositol phosphate dephosphorylation	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0034595	phosphatidylinositol phosphate 5-phosphatase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0042578	phosphoric ester hydrolase activity	IEA	molecular function
GO:0046856	phosphatidylinositol dephosphorylation	IEA	biological process
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	molecular function
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005874	microtubule	ISS	colocalizes with
GO:0030132	clathrin coat of coated pit	ISS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Parkinsonian syndrome	KEGG:H01600
Early infantile epileptic encephalopathy	KEGG:H00606
Parkinsonian syndrome	KEGG:H01600
Parkinson's disease	PMID:25639775
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray