Gene/Proteome Database (LMPD)

LMPD ID
LMP002752
Gene ID
8867
Species
Homo sapiens (Human)
Gene Name
synaptojanin 1
Gene Symbol
SYNJ1
Synonyms
INPP5G; PARK20
Chromosome
21
Map Location
21q22.2
EC Number
3.1.3.36
Summary
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 different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Orthologs
View orthologs and multiple alignments for SYNJ1

Proteins

synaptojanin-1 isoform a
Refseq ID NP_003886
Protein GI 237757312
UniProt ID Q05CZ1
mRNA ID NM_003895
Length 1295
RefSeq Status REVIEWED
MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG
synaptojanin-1 isoform b
Refseq ID NP_982271
Protein GI 237757312
UniProt ID Q05CZ1
mRNA ID NM_203446
Length 1295
RefSeq Status REVIEWED
MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG
synaptojanin-1 isoform c
Refseq ID NP_001153774
Protein GI 237757312
UniProt ID O43426
mRNA ID NM_001160302
Length 1295
RefSeq Status REVIEWED
MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG
synaptojanin-1 isoform d
Refseq ID NP_001153778
Protein GI 237757312
UniProt ID O43426
mRNA ID NM_001160306
Length 1295
RefSeq Status REVIEWED
MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG

Gene Information

Entrez Gene ID
8867
Gene Name
synaptojanin 1
Gene Symbol
SYNJ1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005829 TAS:Reactome C cytosol
GO:0003723 IEA:UniProtKB-KW F RNA binding
GO:0004445 TAS:ProtInc F inositol-polyphosphate 5-phosphatase activity
GO:0000166 IEA:InterPro F nucleotide binding
GO:0004439 IEA:UniProtKB-EC F phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0043647 TAS:Reactome P inositol phosphate metabolic process
GO:0006796 TAS:ProtInc P phosphate-containing compound metabolic process
GO:0006661 TAS:Reactome P phosphatidylinositol biosynthetic process
GO:0046856 IEA:InterPro P phosphatidylinositol dephosphorylation
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:1903390 TAS:ParkinsonsUK-UCL P positive regulation of synaptic vesicle uncoating
GO:1901632 TAS:ParkinsonsUK-UCL P regulation of synaptic vesicle membrane organization
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0048488 TAS:ProtInc P synaptic vesicle endocytosis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-6362 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_150352 Synthesis of IP2, IP, and Ins in the cytosol
REACT_150312 Synthesis of IP3 and IP4 in the cytosol
REACT_121025 Synthesis of PIPs at the plasma membrane

Domain Information

InterPro Annotations

Accession Description
IPR015047 Domain of unknown function DUF1866
IPR005135 Endonuclease/exonuclease/phosphatase
IPR000300 Inositol polyphosphate-related phosphatase
IPR012677 Nucleotide-binding alpha-beta plait domain
IPR000504 RNA recognition motif domain
IPR002013 SAC domain

UniProt Annotations

Entry Information

Gene Name
synaptojanin 1
Protein Entry
SYNJ1_HUMAN
UniProt ID
Q05CZ1
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Synaptojanin-170; IsoId=O43426-1; Sequence=Displayed; Name=2; Synonyms=Synaptojanin-145; IsoId=O43426-2; Sequence=VSP_002682, VSP_002683; Name=3; IsoId=O43426-4; Sequence=VSP_041578, VSP_002682, VSP_002683; Name=4; IsoId=O43426-5; Sequence=VSP_035709, VSP_035710, VSP_035711;
Catalytic Activity 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
Disease Parkinson disease 20, early-onset (PARK20) [MIM
Domain Binds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats.
Domain The C-terminal proline-rich region mediates binding to a variety of SH3 domain-containing proteins including AMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2.
Function Inositol 5-phosphatase which has a role in clathrin- mediated endocytosis.
Sequence Caution Sequence=BAA74933.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity Belongs to the synaptojanin family.
Similarity Contains 1 RRM (RNA recognition motif) domain.
Similarity Contains 1 SAC domain. {ECO
Similarity In the central section; belongs to the inositol 1,4,5- trisphosphate 5-phosphatase family.
Subcellular Location Cytoplasm .
Subunit Interacts with ASH/GRB2. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity). Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3 domain). {ECO
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.

Identical and Related Proteins

Unique RefSeq proteins for LMP002752 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
237757312 RefSeq NP_003886 1295 synaptojanin-1 isoform a
237757312 RefSeq NP_982271 1295 synaptojanin-1 isoform b
237757312 RefSeq NP_001153774 1295 synaptojanin-1 isoform c
237757312 RefSeq NP_001153778 1295 synaptojanin-1 isoform d

Identical Sequences to LMP002752 proteins

Reference Database Accession Length Protein Name
GI:237757312 EMBL CAR81404.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CAR81404.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CAR81404.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CAR81404.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CBX84866.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CBX84866.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CBX84866.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 EMBL CBX84866.1 1295 unnamed protein product [Homo sapiens]
GI:237757312 GenBank AHD71146.1 1295 Sequence 4614 from patent US 8586006
GI:237757312 GenBank AHD71146.1 1295 Sequence 4614 from patent US 8586006
GI:237757312 GenBank AHD71146.1 1295 Sequence 4614 from patent US 8586006
GI:237757312 GenBank AHD71146.1 1295 Sequence 4614 from patent US 8586006

Related Sequences to LMP002752 proteins

Reference Database Accession Length Protein Name
GI:237757312 RefSeq NP_982271.2 1350 synaptojanin-1 isoform b [Homo sapiens]
GI:237757312 RefSeq NP_982271.2 1350 synaptojanin-1 isoform b [Homo sapiens]
GI:237757312 RefSeq NP_982271.2 1350 synaptojanin-1 isoform b [Homo sapiens]
GI:237757312 RefSeq NP_982271.2 1350 synaptojanin-1 isoform b [Homo sapiens]
GI:237757312 RefSeq XP_003319092.1 1295 PREDICTED: synaptojanin-1 isoform X20 [Pan troglodytes]
GI:237757312 RefSeq XP_003319092.1 1295 PREDICTED: synaptojanin-1 isoform X20 [Pan troglodytes]
GI:237757312 RefSeq XP_003319092.1 1295 PREDICTED: synaptojanin-1 isoform X20 [Pan troglodytes]
GI:237757312 RefSeq XP_003319092.1 1295 PREDICTED: synaptojanin-1 isoform X20 [Pan troglodytes]
GI:237757312 RefSeq XP_003824044.1 1295 PREDICTED: synaptojanin-1 isoform X8 [Pan paniscus]
GI:237757312 RefSeq XP_003824044.1 1295 PREDICTED: synaptojanin-1 isoform X8 [Pan paniscus]
GI:237757312 RefSeq XP_003824044.1 1295 PREDICTED: synaptojanin-1 isoform X8 [Pan paniscus]
GI:237757312 RefSeq XP_003824044.1 1295 PREDICTED: synaptojanin-1 isoform X8 [Pan paniscus]
GI:237757312 RefSeq XP_008975963.1 1298 PREDICTED: synaptojanin-1 isoform X7 [Pan paniscus]
GI:237757312 RefSeq XP_008975963.1 1298 PREDICTED: synaptojanin-1 isoform X7 [Pan paniscus]
GI:237757312 RefSeq XP_008975963.1 1298 PREDICTED: synaptojanin-1 isoform X7 [Pan paniscus]
GI:237757312 RefSeq XP_008975963.1 1298 PREDICTED: synaptojanin-1 isoform X7 [Pan paniscus]
GI:237757312 RefSeq XP_009451454.1 1337 PREDICTED: synaptojanin-1 isoform X17 [Pan troglodytes]
GI:237757312 RefSeq XP_009451454.1 1337 PREDICTED: synaptojanin-1 isoform X17 [Pan troglodytes]
GI:237757312 RefSeq XP_009451454.1 1337 PREDICTED: synaptojanin-1 isoform X17 [Pan troglodytes]
GI:237757312 RefSeq XP_009451454.1 1337 PREDICTED: synaptojanin-1 isoform X17 [Pan troglodytes]
GI:237757312 RefSeq XP_009451497.1 1334 PREDICTED: synaptojanin-1 isoform X18 [Pan troglodytes]
GI:237757312 RefSeq XP_009451497.1 1334 PREDICTED: synaptojanin-1 isoform X18 [Pan troglodytes]
GI:237757312 RefSeq XP_009451497.1 1334 PREDICTED: synaptojanin-1 isoform X18 [Pan troglodytes]
GI:237757312 RefSeq XP_009451497.1 1334 PREDICTED: synaptojanin-1 isoform X18 [Pan troglodytes]