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] See more...

Aliases for SYNJ1 Gene

Aliases for SYNJ1 Gene

  • Synaptojanin 1 2 3 5
  • Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 1 2 3 4
  • Inositol Polyphosphate-5-Phosphatase G 2 3
  • Phosphoinositide 5-Phosphatase 2 3
  • Synaptojanin-1 3 4
  • EC 3.1.3.36 4 50
  • INPP5G 2 3
  • PARK20 2 3
  • Synaptojanin-1, Polyphosphoinositide Phosphatase 3
  • Inositol 5'-Phosphatase (Synaptojanin 1) 3
  • KIAA0910 4
  • EC 3.1.3 50
  • EIEE53 3
  • DEE53 3
  • SYNJ1 5

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 Developmental And Epileptic Encephalopathy 53. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SYNJ2.

UniProtKB/Swiss-Prot Summary for SYNJ1 Gene

  • Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNJ1 Gene

Genomics for SYNJ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYNJ1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNJ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNJ1

Top Transcription factor binding sites by QIAGEN in the SYNJ1 gene promoter:
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2

Genomic Locations for SYNJ1 Gene

Latest Assembly
chr21:32,628,759-32,731,247
(GRCh38/hg38)
Size:
102,489 bases
Orientation:
Minus strand

Previous Assembly
chr21:34,001,069-34,100,351
(GRCh37/hg19 by Entrez Gene)
Size:
99,283 bases
Orientation:
Minus strand

chr21:34,001,069-34,100,359
(GRCh37/hg19 by Ensembl)
Size:
99,291 bases
Orientation:
Minus strand

Genomic View for SYNJ1 Gene

Genes around SYNJ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNJ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:10542231). Interacts with MYO1E (via SH3 domain) (PubMed:17257598). Interacts with BIN1 and DNM1 (By similarity).
    SequenceCaution:
    • Sequence=BAA74933.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Selected DME Specific Peptides for SYNJ1 Gene

O43426:
  • KLKDGARS
  • HKQAKACL
  • LKSPDWIK
  • LTDWLLDAP
  • YAGTGAL
  • WNQSLHLHLKHYGVNC
  • DTSEKCR
  • FSHDYVFWCGDFNYRIDL
  • EIARKLSFPMGR
  • EANAPAF
  • DTVKTGMGG
  • DCLDRTN
  • ADFDMEGDVDDYSAEVEE
  • KGAVAIR
  • ELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDV
  • KQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGT
  • ALEGKAK
  • DPFEDLS
  • RGSVPLFW
  • LPQHLQPSSSS
  • GTWNVNGGKQFRS
  • RPAPPQRPPPPSGARSPAP
  • PFIRDVA
  • KCRTPAWTDRVLW

Post-translational modifications for SYNJ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SYNJ1 Gene

Gene Families for SYNJ1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SYNJ1 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • Synaptojanin, N-terminal
  • Inositol polyphosphate related phosphatase family

Suggested Antigen Peptide Sequences for SYNJ1 Gene

GenScript: Design optimal peptide antigens:
  • SYNJ1 protein (B9EGN3_HUMAN)
  • SYNJ1 protein (Q05CZ1_HUMAN)
  • Synaptojanin 1 (Q1ZYQ4_HUMAN)
  • Synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 (SYNJ1_HUMAN)

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.
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 Function:
Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36;.

Enzyme Numbers (IUBMB) for SYNJ1 Gene

Phenotypes From GWAS Catalog for SYNJ1 Gene

Gene Ontology (GO) - Molecular Function for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0004438 phosphatidylinositol-3-phosphatase activity IDA 18093523
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA,TAS --
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with SYNJ1: view
genes like me logo Genes that share phenotypes with SYNJ1: view

Human Phenotype Ontology for SYNJ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYNJ1 Gene

MGI Knock Outs for SYNJ1:
  • Synj1 Synj1<tm1Pdc>
  • Synj1 Synj1<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNJ1

Clone products for research

  • Addgene plasmids for SYNJ1

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, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNJ1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
mitochondrion 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Centrosome (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005874 colocalizes_with microtubule ISS 9428629
GO:0012506 vesicle membrane ISS --
GO:0030117 membrane coat ISS --
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 activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SYNJ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006836 neurotransmitter transport ISS --
GO:0006897 endocytosis IEA --
GO:0007420 brain development IBA 21873635
GO:0007612 learning IMP 18591654
genes like me logo Genes that share ontologies with SYNJ1: view

Drugs & Compounds for SYNJ1 Gene

(4) Drugs for SYNJ1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(3) Additional Compounds for SYNJ1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SYNJ1: view

Transcripts for SYNJ1 Gene

mRNA/cDNA for SYNJ1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNJ1

Clone products for research

  • Addgene plasmids for SYNJ1

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

Expression for SYNJ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SYNJ1 Gene



Protein tissue co-expression partners for SYNJ1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNJ1

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.

Evidence on tissue expression from TISSUES for SYNJ1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Eye(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNJ1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SYNJ1: view

Primer products for research

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 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNJ1 29 30
  • 91.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNJ1 29 30
  • 90.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Synj1 29
  • 88.34 (n)
Mouse
(Mus musculus)
Mammalia Synj1 29 16 30
  • 86.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SYNJ1 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SYNJ1 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYNJ1 29 30
  • 78.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 84 (a)
OneToMany
-- 30
  • 81 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia synj1 29
  • 70.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25037 29
Zebrafish
(Danio rerio)
Actinopterygii synj1 29 30
  • 66.85 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta synj 29 30
  • 56.47 (n)
OneToMany
synaptojanin 31
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012175 29
  • 54.73 (n)
Worm
(Caenorhabditis elegans)
Secernentea unc-26 29 30
  • 54.08 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP53 30
  • 30 (a)
ManyToMany
INP52 30
  • 30 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToMany
Species where no ortholog for SYNJ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SYNJ1: view image
Alliance of Genome Resources:
Additional Orthologs for SYNJ1

Paralogs for SYNJ1 Gene

(4) SIMAP similar genes for SYNJ1 Gene using alignment to 12 proteins:

  • SYNJ1_HUMAN
  • B9EGN3_HUMAN
  • C9J1Z6_HUMAN
  • C9JFZ1_HUMAN
  • C9JW66_HUMAN
  • H7BZ56_HUMAN
  • H7BZC2_HUMAN
  • H7C3R5_HUMAN
  • J3KPK1_HUMAN
  • J3KQV8_HUMAN
  • Q05CZ1_HUMAN
  • Q1ZYQ4_HUMAN
genes like me logo Genes that share paralogs with SYNJ1: view

Variants for SYNJ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNJ1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1000406 Uncertain Significance: Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 32,645,640(-) T/G
NM_203446.3(SYNJ1):c.3391+6A>C
INTRON
1000814 Uncertain Significance: Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 32,666,038(-) A/C
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly)
MISSENSE
1000830 Uncertain Significance: Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 32,688,348(-) C/A
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu)
MISSENSE
1002142 Uncertain Significance: Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 32,641,924(-) C/T
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu)
MISSENSE
1002258 Uncertain Significance: Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 32,688,315(-) G/A
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYNJ1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2380n106 CNV deletion 24896259
esv3646891 CNV gain 21293372
esv3646892 CNV loss 21293372
nsv1063676 CNV gain 25217958
nsv1131630 CNV deletion 24896259
nsv834086 CNV loss 17160897

Variation tolerance for SYNJ1 Gene

Residual Variation Intolerance Score: 20.1% 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)

Additional Variant Information for SYNJ1 Gene

Human Gene Mutation Database (HGMD)
SYNJ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNJ1
Leiden Open Variation Database (LOVD)
SYNJ1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SYNJ1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for SYNJ1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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, ECO:0000269 PubMed:27496670}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 53 (EIEE53) [MIM:617389]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE53 inheritance is autosomal recessive. {ECO:0000269 PubMed:27435091}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SYNJ1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SYNJ1: view

No data available for Genatlas for SYNJ1 Gene

Publications for SYNJ1 Gene

  1. Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. (PMID: 27435091) Hardies K … Weckhuysen S (Brain : a journal of neurology 2016) 3 4 72
  2. Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. (PMID: 27496670) Kirola L … Thelma BK (Parkinsonism & related disorders 2016) 3 4 72
  3. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. (PMID: 23804563) Krebs CE … Paisán-Ruiz C (Human mutation 2013) 3 4 72
  4. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. (PMID: 23804577) Quadri M … Bonifati V (Human mutation 2013) 3 4 72
  5. Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. (PMID: 14704270) Lee SY … De Camilli P (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 22

Products for SYNJ1 Gene

Sources for SYNJ1 Gene