Gene/Proteome Database (LMPD)
LMPD ID
LMP002752
Gene ID
Species
Homo sapiens (Human)
Gene Name
synaptojanin 1
Gene Symbol
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
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
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005829 | TAS:Reactome | C | cytosol |
| 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:0003723 | IEA:UniProtKB-KW | F | RNA binding |
| 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
UniProt Annotations
Entry Information
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] |