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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 3 4
  • EC 3.1.3.36 4 63
  • PARK20 3 6
  • Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 1 3
  • Synaptojanin-1, Polyphosphoinositide Phosphatase 3
  • Inositol 5-Phosphatase (Synaptojanin 1) 3
  • Synaptojanin-1 3
  • KIAA0910 4
  • EC 3.1.3 63
  • INPP5G 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 Metabolism. GO annotations related to this gene include RNA binding and inositol-polyphosphate 5-phosphatase activity. 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

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 for SYNJ1 Gene

Gene Families for SYNJ1 Gene

Graphical View of Domain Structure for InterPro Entry

O43426

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.
  • 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:

miRNA Products

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 Targeting 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
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030117 membrane coat ISS --
genes like me logo Genes that share ontologies with SYNJ1: view

Pathways for SYNJ1 Gene

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

Gene Ontology (GO) - Biological Process for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0007612 learning --
genes like me logo Genes that share ontologies with SYNJ1: view

Compounds for SYNJ1 Gene

(3) HMDB Compounds for SYNJ1 Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(5) Novoseek inferred chemical compound relationships for SYNJ1 Gene

Compound -log(P) Hits PubMed IDs
phosphoinositide 62.9 3
inositol 57.8 4
phosphatidylinositol 39.8 2
tyrosine 14.9 5
lipid 0 1
genes like me logo Genes that share compounds with SYNJ1: view

Transcripts for SYNJ1 Gene

Unigene Clusters for SYNJ1 Gene

Synaptojanin 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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) (4.5) and Brain - Anterior cingulate cortex (BA24) (4.1).

Integrated Proteomics: protein expression 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 expressions with SYNJ1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SYNJ1 35
  • 99.52 (n)
  • 99.69 (a)
SYNJ1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SYNJ1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Synj1 35
  • 88.34 (n)
  • 94.17 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.25037 35
tropical clawed frog
(Silurana tropicalis)
Amphibia synj1 35
  • 70.03 (n)
  • 72.85 (a)
zebrafish
(Danio rerio)
Actinopterygii synj1 35
  • 66.85 (n)
  • 72.91 (a)
synj1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012175 35
  • 54.73 (n)
  • 58.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta synj 35
  • 56.47 (n)
  • 57.72 (a)
synj 36
  • 50 (a)
OneToMany
synaptojanin 37
  • 54 (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
rs2406 -- 32,645,547(+) AAAAC(A/T)GTAAA intron-variant
rs13554 -- 32,629,186(-) CTTCA(C/T)TAGTG utr-variant-3-prime
rs582547 -- 32,723,175(-) ACCCA(A/C)GTGTT intron-variant
rs599352 -- 32,724,643(-) TGCCT(A/G)TTGTA intron-variant
rs607020 -- 32,713,994(+) ATAAT(A/G)TTCTA intron-variant

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

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

(1) OMIM Diseases for SYNJ1 Gene (604297)

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.

(2) University of Copenhagen DISEASES for SYNJ1 Gene

(2) Novoseek inferred disease relationships for SYNJ1 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 43.7 1
bipolar disorder 24.1 1

Relevant External Links for SYNJ1

Genetic Association Database (GAD)
SYNJ1
Human Genome Epidemiology (HuGE) Navigator
SYNJ1
genes like me logo Genes that share disorders with SYNJ1: view

Publications for SYNJ1 Gene

  1. Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder. (PMID: 11443522) Saito T. … Lachman H.M. (Mol. Psychiatry 2001) 3 23 48
  2. 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. (PMID: 10542231) Cestra G. … Cesareni G. (J. Biol. Chem. 1999) 3 4 23
  3. Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. (PMID: 9428629) Haffner C. … De Camilli P. (FEBS Lett. 1997) 2 3 4
  4. 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. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  5. SNX9 as an adaptor for linking synaptojanin-1 to the Cdc42 effector ACK1. (PMID: 16137687) Yeow-Fong L. … Manser E. (FEBS Lett. 2005) 3 23

Products for SYNJ1 Gene

Sources for SYNJ1 Gene

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