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Aliases for SYNJ1 Gene

Aliases for SYNJ1 Gene

  • Synaptojanin 1 2 3
  • Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 1 2 3 4
  • EC 3.1.3.36 4 63
  • Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 1 3
  • Synaptojanin-1, Polyphosphoinositide Phosphatase 3
  • Inositol 5-Phosphatase (Synaptojanin 1) 3
  • Inositol Polyphosphate-5-Phosphatase G 2
  • Phosphoinositide 5-Phosphatase 2
  • KIAA0910 4
  • EC 3.1.3 63
  • INPP5G 3
  • PARK20 3

External Ids for SYNJ1 Gene

Previous GeneCards Identifiers for SYNJ1 Gene

  • GC21M030580
  • GC21M030661
  • GC21M032921
  • GC21M032923
  • GC21M032922
  • GC21M033997
  • GC21M019410

Summaries for SYNJ1 Gene

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 atypical juvenile parkinsonism. Among its related pathways are Metabolism and Internalization of ErbB1. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SYNJ2.

UniProtKB/Swiss-Prot for SYNJ1 Gene

  • Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNJ1 Gene

Genomics for SYNJ1 Gene

Regulatory Elements for SYNJ1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SYNJ1 Gene

Chromosome:
21
Start:
32,628,759 bp from pter
End:
32,728,048 bp from pter
Size:
99,290 bases
Orientation:
Minus strand

Genomic View for SYNJ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SYNJ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNJ1 Gene

Proteins for SYNJ1 Gene

  • Protein details for SYNJ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43426-SYNJ1_HUMAN
    Recommended name:
    Synaptojanin-1
    Protein Accession:
    O43426
    Secondary Accessions:
    • O43425
    • O94984
    • Q4KMR1

    Protein attributes for SYNJ1 Gene

    Size:
    1573 amino acids
    Molecular mass:
    173103 Da
    Quaternary structure:
    • Interacts with ASH/GRB2. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity). Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3 domain).
    SequenceCaution:
    • Sequence=BAA74933.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNJ1 Gene

    Alternative splice isoforms for SYNJ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNJ1 Gene

Proteomics data for SYNJ1 Gene at MOPED

Post-translational modifications for SYNJ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for SYNJ1 Gene

Gene Families for SYNJ1 Gene

Graphical View of Domain Structure for InterPro Entry

O43426

UniProtKB/Swiss-Prot:

SYNJ1_HUMAN :
  • Binds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats.
  • Belongs to the synaptojanin family.
Domain:
  • Binds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats.
  • The C-terminal proline-rich region mediates binding to a variety of SH3 domain-containing proteins including AMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2
  • Contains 1 RRM (RNA recognition motif) domain.
  • Contains 1 SAC domain.
Family:
  • Belongs to the synaptojanin family.
  • In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.
genes like me logo Genes that share domains with SYNJ1: view

Function for SYNJ1 Gene

Molecular function for SYNJ1 Gene

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

Enzyme Numbers (IUBMB) for SYNJ1 Gene

Gene Ontology (GO) - Molecular Function for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity ISS --
GO:0004445 inositol-polyphosphate 5-phosphatase activity TAS 9428629
genes like me logo Genes that share ontologies with SYNJ1: view
genes like me logo Genes that share phenotypes with SYNJ1: view

Animal Models for SYNJ1 Gene

MGI Knock Outs for SYNJ1:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNJ1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SYNJ1 Gene

Localization for SYNJ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNJ1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNJ1 Gene COMPARTMENTS Subcellular localization image for SYNJ1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
endosome 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0030117 membrane coat ISS --
GO:0043005 neuron projection --
GO:0043234 protein complex --
genes like me logo Genes that share ontologies with SYNJ1: view

Pathways & Interactions for SYNJ1 Gene

genes like me logo Genes that share pathways with SYNJ1: view

SIGNOR curated interactions for SYNJ1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation --
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006796 phosphate-containing compound metabolic process TAS 9428629
GO:0006836 neurotransmitter transport ISS --
genes like me logo Genes that share ontologies with SYNJ1: view

Drugs & Compounds for SYNJ1 Gene

(2) Drugs for SYNJ1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol Nutra 65
tyrosine Nutra 547

(7) Additional Compounds for SYNJ1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
LIPID
genes like me logo Genes that share compounds with SYNJ1: view

Transcripts for SYNJ1 Gene

Unigene Clusters for SYNJ1 Gene

Synaptojanin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNJ1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ1 Gene

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:
SP6:
SP7: -

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33
SP1: - - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for SYNJ1 Gene

GeneLoc Exon Structure for
SYNJ1
ECgene alternative splicing isoforms for
SYNJ1

Expression for SYNJ1 Gene

mRNA expression in normal human tissues for SYNJ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYNJ1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.5) and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for SYNJ1 Gene

This gene is overexpressed in Frontal cortex (30.4), Brain (20.1), and Spinal cord (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNJ1 Gene



SOURCE GeneReport for Unigene cluster for SYNJ1 Gene Hs.473632

mRNA Expression by UniProt/SwissProt for SYNJ1 Gene

O43426-SYNJ1_HUMAN
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
genes like me logo Genes that share expression patterns with SYNJ1: view

Protein tissue co-expression partners for SYNJ1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SYNJ1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SYNJ1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SYNJ1 35
  • 90.35 (n)
  • 94.46 (a)
SYNJ1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNJ1 35
  • 91.84 (n)
  • 93.12 (a)
SYNJ1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Synj1 35
  • 86.97 (n)
  • 90.26 (a)
Synj1 16
Synj1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYNJ1 35
  • 99.52 (n)
  • 99.69 (a)
SYNJ1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Synj1 35
  • 88.34 (n)
  • 94.17 (a)
oppossum
(Monodelphis domestica)
Mammalia SYNJ1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNJ1 35
  • 78.39 (n)
  • 80.95 (a)
SYNJ1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia synj1 35
  • 70.03 (n)
  • 72.85 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25037 35
zebrafish
(Danio rerio)
Actinopterygii synj1 35
  • 66.85 (n)
  • 72.91 (a)
synj1 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta synaptojanin 37
  • 54 (a)
synj 35
  • 56.47 (n)
  • 57.72 (a)
synj 36
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012175 35
  • 54.73 (n)
  • 58.77 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-26 35
  • 54.08 (n)
  • 47.3 (a)
unc-26 36
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP52 36
  • 30 (a)
ManyToMany
INP53 36
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for SYNJ1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SYNJ1 Gene

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

Paralogs for SYNJ1 Gene

Paralogs for SYNJ1 Gene

genes like me logo Genes that share paralogs with SYNJ1: view

Variants for SYNJ1 Gene

Sequence variations from dbSNP and Humsavar for SYNJ1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_047308 -
VAR_047309 -
VAR_047310 -, -, -
VAR_070905 Parkinson disease 20, early-onset (PARK20)
VAR_070906 -

Structural Variations from Database of Genomic Variants (DGV) for SYNJ1 Gene

Variant ID Type Subtype PubMed ID
dgv4731n71 CNV Gain 21882294
dgv4732n71 CNV Gain 21882294
nsv834086 CNV Loss 17160897

Variation tolerance for SYNJ1 Gene

Residual Variation Intolerance Score: 20.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.31; 94.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNJ1 Gene

HapMap Linkage Disequilibrium report
SYNJ1
Human Gene Mutation Database (HGMD)
SYNJ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNJ1 Gene

Disorders for SYNJ1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SYNJ1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 20, early-onset
  • park20
atypical juvenile parkinsonism
synj1-related parkinson disease
  • parkinson disease 20, early-onset
oculocerebrorenal syndrome
  • lowe syndrome
parkinson disease, late-onset
  • kufor-rakeb syndrome
- elite association
Search SYNJ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYNJ1_HUMAN
  • Parkinson disease 20, early-onset (PARK20) [MIM:615530]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia. {ECO:0000269 PubMed:23804563, ECO:0000269 PubMed:23804577}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SYNJ1

Genetic Association Database (GAD)
SYNJ1
Human Genome Epidemiology (HuGE) Navigator
SYNJ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNJ1
genes like me logo Genes that share disorders with SYNJ1: view

No data available for Genatlas for SYNJ1 Gene

Publications for SYNJ1 Gene

  1. Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. (PMID: 14704270) Lee S.Y. … De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 23 67
  2. The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease. (PMID: 24609975) Winkler S. … Lohmann K. (J. Neurol. 2014) 2 67
  3. Crystallization and preliminary X-ray crystallographic analysis of human PACSIN 1 protein. (PMID: 20057076) Bai X. … Zheng X. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 23 67
  4. Alternative splicing affecting the SH3A domain controls the binding properties of intersectin 1 in neurons. (PMID: 18539136) Tsyba L. … Rynditch A. (Biochem. Biophys. Res. Commun. 2008) 23 67
  5. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. (PMID: 18591654) Voronov S.V. … Di Paolo G. (Proc. Natl. Acad. Sci. U.S.A. 2008) 23 67

Products for SYNJ1 Gene

Sources for SYNJ1 Gene

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