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SYNJ1 Gene

protein-coding   GIFtS: 68
GCID: GC21M033997

Synaptojanin 1

  See SYNJ1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Synaptojanin 11 2     Inositol 5'-Phosphatase (Synaptojanin 1)2
Synaptojanin-1, Polyphosphoinositide Phosphatase2 11     Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 12
Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 12 3     synaptojanin-12
EC 3.1.3.363 8     KIAA09103
PARK202 5     EC 3.1.38
INPP5G2     

External Ids:    HGNC: 115031   Entrez Gene: 88672   Ensembl: ENSG000001590827   OMIM: 6042975   UniProtKB: O434263   

Export aliases for SYNJ1 gene to outside databases

Previous GC identifers: GC21M030580 GC21M030661 GC21M032921 GC21M032923 GC21M032922 GC21M019410


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SYNJ1 Gene:
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)

GeneCards Summary for SYNJ1 Gene:
SYNJ1 (synaptojanin 1) is a protein-coding gene. Diseases associated with SYNJ1 include parkinson disease 20, early-onset, and parkinson disease 19, juvenile-onset. GO annotations related to this gene include inositol-polyphosphate 5-phosphatase activity and RNA binding. An important paralog of this gene is INPP5E.

UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426
Function: Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SYNJ1 gene promoter:
         NRSF form 1   Nkx2-5   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SYNJ1 promoter sequence

   Search Chromatin IP Primers for SYNJ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SYNJ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.2
Nature(405: 311-319) cytogenetic band:   21q22.11
SYNJ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNJ1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M033997:   GeneLoc Nature:405,311-319
Start:
34,001,069 bp from pter       19,577,707 bp from centromere
End:
34,100,359 bp from pter 19,649,002 bp from centromere
Size:
99,291 bases 71,296 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: AF009040
genomic clones: pT1866 - pPQ62G5


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426 (See protein sequence)
Recommended Name: Synaptojanin-1  
Size: 1573 amino acids; 173103 Da
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)
Sequence caution: Sequence=BAA74933.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for SYNJ1:
1W80 (3D)        2DNR (3D)        2VJ0 (3D)    
Secondary accessions: O43425 O94984 Q4KMR1
Alternative splicing: 4 isoforms:  O43426-1   O43426-2   O43426-4   O43426-5   

Explore the universe of human proteins at neXtProt for SYNJ1: NX_O43426

Explore proteomics data for SYNJ1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SYNJ1 (O43426) (see all 24)
     DCLDRTN  KGAVAIR  YAGTGAL  ALEGKAK 


    See SYNJ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001153774.1  NP_001153778.1  NP_003886.3  NP_982271.2  

    ENSEMBL proteins: 
     ENSP00000388869   ENSP00000371939   ENSP00000409667   ENSP00000387868   ENSP00000413480  
     ENSP00000413649   ENSP00000412707   ENSP00000371931   ENSP00000322234   ENSP00000349903  
    Reactome Protein details: O43426

    SYNJ1 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for SYNJ1
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    Novus Biologicals SYNJ1 Protein
    Novus Biologicals SYNJ1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SYNJ1

     
    Search eBioscience for Proteins for SYNJ1 

     
    antibodies-online proteins for SYNJ1 (2 products) 

     
    antibodies-online peptides for SYNJ1

    SYNJ1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYNJ1
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    Abcam antibodies for SYNJ1 (Q4KMR1, O43426)
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    antibodies-online antibodies for SYNJ1 (32 products) 

    SYNJ1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SYNJ1
    Cloud-Clone Corp. CLIAs for SYNJ1
    Search eBioscience for ELISAs for SYNJ1 
    antibodies-online kits for SYNJ1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: SYNJ1
    Inositol polyphosphate phosphatases

    Selected InterPro protein domains (see all 6):
     IPR005135 Endo/exonuclease/phosphatase
     IPR002013 Syja_N
     IPR000300 IPPc
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry O43426

    ProtoNet protein and cluster: O43426

    3 Blocks protein domains:
    IPB000300 Inositol polyphosphate related phosphatase family
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB002013 Synaptojanin


    UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426
    Domain: Binds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe
    (NPF) repeats (By similarity)
    Domain: The C-terminal proline-rich region mediates binding to a variety of SH3 domain-containing proteins
    including AMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2
    Similarity: Belongs to the synaptojanin family
    Similarity: In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family
    Similarity: Contains 1 RRM (RNA recognition motif) domain
    Similarity: Contains 1 SAC domain


    Find genes that share domains with SYNJ1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYNJ1_HUMAN, O43426
    Function: Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol
    4-phosphate + phosphate

         Enzyme Numbers (IUBMB): EC 3.1.3.361 2 EC 3.1.32

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0004439phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA--
    GO:0004445inositol-polyphosphate 5-phosphatase activity TAS9428629
         
    Find genes that share ontologies with SYNJ1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for SYNJ1:
     Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Synj1):
     behavior/neurological  growth/size/body  mortality/aging  nervous system 

    Find genes that share phenotypes with SYNJ1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Synj1tm1Pdc for SYNJ1

       genOway: Develop your customized and physiologically relevant rodent model for SYNJ1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SYNJ1:
    hsa-mir-15b-5p (MIRT046396), hsa-mir-32-5p (MIRT028365), hsa-mir-10a-5p (MIRT047739), hsa-mir-103a-3p (MIRT027224), hsa-mir-92a-3p (MIRT049591), hsa-mir-16-5p (MIRT031926)

    Block miRNA regulation of human, mouse, rat SYNJ1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SYNJ1 (see all 63):
    hsa-miR-142-5p hsa-miR-140-5p hsa-miR-429 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-15a hsa-miR-25 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidSYNJ1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SYNJ1
    Predesigned siRNA for gene silencing in human, mouse, rat SYNJ1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): SYNJ1 (NM_203446)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNJ1
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    Addgene plasmids for SYNJ1 

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12181) for SYNJ1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYNJ1_HUMAN, O43426: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030117membrane coat ----

    Find genes that share ontologies with SYNJ1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SYNJ1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    superpathway of inositol phosphate compounds0.60
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP2, IP, and Ins in the cytosol0.00
    Synthesis of IP3 and IP4 in the cytosol0.59
    4PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the plasma membrane0.65
    5Glycerophospholipid biosynthesis
    Phospholipid metabolism0.64


    Find genes that share SuperPaths with SYNJ1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for SYNJ1 (see all 8)
        1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,4,5)-trisphosphate degradation
    Internalization of ErbB1
    EPHB forward signaling

    3 Reactome Pathways for SYNJ1
        Synthesis of IP2, IP, and Ins in the cytosol
    Synthesis of PIPs at the plasma membrane
    Synthesis of IP3 and IP4 in the cytosol


    3 Kegg Pathways  (Kegg details for SYNJ1):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SYNJ1
    Interactions:

        GeneGlobe Interaction Network for SYNJ1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SYNJ1 (O434262, 3 ENSP000003222344) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMPHP494182, 3, ENSP000003486024MINT-8095961 MINT-16056 MINT-8095825 MINT-8095924 I2D: score=4 STRING: ENSP00000348602
    SNX9Q9Y5X12, 3, ENSP000003760244MINT-62869 MINT-62867 MINT-62870 MINT-62871 I2D: score=1 STRING: ENSP00000376024
    SH3GL1Q999612, 3, ENSP000002698864MINT-8096061 MINT-8096099 MINT-8096027 I2D: score=3 STRING: ENSP00000269886
    ITSN1Q158112, 3, ENSP000003707194MINT-7302524 I2D: score=2 STRING: ENSP00000370719
    NCK1P163332, 3, ENSP000002889864MINT-62872 I2D: score=1 STRING: ENSP00000288986
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0006796phosphate-containing compound metabolic process TAS9428629
    GO:0006836neurotransmitter transport ----
    GO:0007612learning ----

    Find genes that share ontologies with SYNJ1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SYNJ1

    3 HMDB Compounds for SYNJ1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 Novoseek inferred chemical compound relationships for SYNJ1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 62.9 3 15080793 (1), 18987319 (1), 15821731 (1)
    inositol 57.8 4 9670943 (1), 15261714 (1), 14704270 (1), 11443522 (1)
    phosphatidylinositol 39.8 2 10542231 (1), 15821731 (1)
    tyrosine 14.9 6 15821731 (3), 9670943 (1), 16137687 (1)
    lipid 0 1 11604140 (1)



    Find genes that share compounds with SYNJ1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SYNJ1 gene (4 alternative transcripts): 
    NM_001160302.1  NM_001160306.1  NM_003895.3  NM_203446.2  

    Unigene Cluster for SYNJ1:

    Synaptojanin 1
    Hs.473632  [show with all ESTs]
    Unigene Representative Sequence: NM_203446
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438952 ENST00000382499(uc002yqi.2 uc002yqh.2) ENST00000433931
    ENST00000418301 ENST00000416083 ENST00000467445 ENST00000464778 ENST00000429236
    ENST00000456084 ENST00000382491(uc002yqg.2) ENST00000322229 ENST00000357345(uc002yqe.4 uc011ads.1 uc002yqf.2)

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    hsa-miR-142-5p hsa-miR-140-5p hsa-miR-429 hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-15a hsa-miR-25 hsa-let-7a-2*
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    Additional mRNA sequence: 

    AB020717.2 AF009039.1 AF009040.1 AK295706.1 AK304044.1 AK307762.1 BC019630.1 BC067231.1 
    BC098395.1 BC136603.1 DQ421853.1 

    10 DOTS entries:

    DT.92427284  DT.99948262  DT.100824927  DT.101969261  DT.415190  DT.100726145  DT.121133822  DT.92427280 
    DT.95179231  DT.421519 

    Selected AceView cDNA sequences (see all 114):

    BE220282 BM704318 AI887932 CA944966 NM_203446 BX390364 NM_003895 F09787 
    AA773075 CA941718 BQ024098 F13224 BE222406 T33181 F10825 BF940984 
    Z44564 AI253254 AB020717 BF109166 BG545342 AU136513 BU754240 AU131904 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                                -                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:        -                                                                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33
    SP1:                          -     -     -                                 
    SP2:                                -                                       
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                -                                       


    ECgene alternative splicing isoforms for SYNJ1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SYNJ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTAGTGT
    SYNJ1 Expression
    About this image


    SYNJ1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SYNJ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYNJ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473632

    UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426
    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

        Custom PCR Arrays for SYNJ1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SYNJ1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Synj11 , 5 synaptojanin 11, 5 86.97(n)1
    90.26(a)1
      16 (52.18 cM)5
    1040151  NM_001164483.11  NP_001157955.11 
     909360925 
    chicken
    (Gallus gallus)
    Aves SYNJ11 synaptojanin 1 78.39(n)
    80.95(a)
      418498  XM_416706.4  XP_416706.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    84(a)
    81(a)
    1 ↔ many
    1 ↔ many
    3(145140378-145191956)
    AAWZ02040377(41-7022)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.250372 Xenopus laevis, Similar to synaptojanin 1, clone IMAGE557 more 78.07(n)    BC049175.1 
    zebrafish
    (Danio rerio)
    Actinopterygii synj11 synaptojanin 1 66.85(n)
    72.91(a)
      337236  NM_001007030.1  NP_001007031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta synaptojanin3
    synj1
    synaptic vesicle endocytosis
    inositol-1,4,5-trisphosphate
    more3
    synaptojanin1
    54(a)3
    56.47(n)1
    57.72(a)1
      58B43
    375171  NM_001259525.11  NP_001246454.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-261 unc-26 54.08(n)
    47.3(a)
      13198854  NM_001136390.2  NP_001129862.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes INP536
    INP526
    Polyphosphatidylinositol phosphatase, dephosphoryl...
    Polyphosphatidylinositol phosphatase, dephosphoryl...
    30(a)
    30(a)
    many ↔ many
    many ↔ many
    XV(525278-528601) YOR109W
    XIV(420944-424495) YNL106C


    ENSEMBL Gene Tree for SYNJ1 (if available)
    TreeFam Gene Tree for SYNJ1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SYNJ1 gene
    INPP5E2  INPPL12  INPP5B2  INPP5J2  OCRL2  INPP5D2  INPP5K2  SYNJ22  
    4 SIMAP similar genes for SYNJ1 using alignment to 12 protein entries:     SYNJ1_HUMAN (see all proteins):
    SYNJ2    INPP5J    SACM1L    INPP5K

    Find genes that share paralogs with SYNJ1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SYNJ1 (see all 1786)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs39891871,2
    C--19456319(+) TTTTT-/T/TT  
            
    GGTCT
    4 -- int11NA 2
    rs2010126631,2
    C--19460311(+) AAAAT-/ATAAAG 4 -- int10--------
    rs2006442231,2
    C--19466578(+) TAAGT-/CGG   
       CCGGG
    GGCCG
    4 -- int10--------
    rs1928359531,2
    C--24544314(+) TTTGCA/GTGAGG 4 -- ds50010--------
    rs1400113611,2
    C--24544409(+) GCACAA/GTCTCG 4 -- ds50010--------
    rs1498595271,2
    --24544555(+) ATGTGA/GGCCAG 4 -- ds50010--------
    rs1830711191,2
    --24544582(+) TTAATA/GATGAT 4 -- ds50010--------
    rs1883734041,2
    --24544674(+) GATTCA/GGCAAT 4 -- ds50010--------
    rs1928703741,2
    --24544819(+) CAGCAC/TGTTTC 4 -- ut310--------
    rs135541,2
    C,F,A,H--24545208(-) CTTCAC/TTAGTG 4 -- ut31 ese328Minor allele frequency- T:0.47MN NA NS EA WA 3117

    HapMap Linkage Disequilibrium report for SYNJ1 (34001069 - 34100359 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SYNJ1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834086CNV Loss17160897
    dgv4732n71CNV Gain21882294
    dgv4731n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): SYNJ1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SYNJ1
    DNA2.0 Custom Variant and Variant Library Synthesis for SYNJ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604297   
    OMIM disorders: 615530  
    2 diseases for SYNJ1:    
    About MalaCards
    parkinson disease 20, early-onset    parkinson disease 19, juvenile-onset

    2 diseases from the University of Copenhagen DISEASES database for SYNJ1:
    Oculocerebrorenal syndrome     Down syndrome

    Find genes that share disorders with SYNJ1           About GenesLikeMe

    2 Novoseek inferred disease relationships for SYNJ1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 43.7 1 18591654 (1)
    bipolar disorder 24.1 1 11443522 (1)

    Genetic Association Database (GAD): SYNJ1
    Human Genome Epidemiology (HuGE) Navigator: SYNJ1 (1 document)

    Export disorders for SYNJ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SYNJ1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with SYNJ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. (PubMed id 9428629)1, 2, 3 Haffner C.... De Camilli P. (FEBS Lett. 1997)
    2. Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder. (PubMed id 11443522)1, 4, 9 Saito T....Lachman H.M. (Mol. Psychiatry 2001)
    3. The SH3 domains of endophilin and amphiphysin bind to the proline- rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. (PubMed id 10542231)1, 2, 9 Cestra G.... Cesareni G. (J. Biol. Chem. 1999)
    4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    5. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    6. Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization. (PubMed id 10773674)1, 3 Cremona O....De Camilli P. (Cytogenet. Cell Genet. 2000)
    7. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    8. Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. (PubMed id 14704270)1, 9 Lee S.Y....De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1. (PubMed id 15821731)1, 9 Irie F....Yamaguchi Y. (Nat. Cell Biol. 2005)
    10. Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. (PubMed id 17257598)2, 9 Krendel M.... Mooseker M.S. (FEBS Lett. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8867 HGNC: 11503 AceView: SYNJ1 Ensembl:ENSG00000159082 euGenes: HUgn8867
    ECgene: SYNJ1 Kegg: 8867 H-InvDB: SYNJ1

    (According to HUGE)
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    HUGE: KIAA0910

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SYNJ1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SYNJ1 gene:
    Search GeneIP for patents involving SYNJ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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