SYNJ1 Gene
protein-coding GIFtS: 64
GCID: GC21M033997
|
|
synaptojanin 1
| |
Aliases for SYNJ1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb, and/or 11Nature:405,311-319 and CroW21) About This Section
|
| Aliases |
|---|
| Synaptojanin 11 2 | | Inositol 5'-Phosphatase (Synaptojanin 1)2 | | INPP5G1 2 | | Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 12 | | Synaptojanin-1, Polyphosphoinositide Phosphatase2 11 | | Synaptojanin-11 | | Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 12 3 | | KIAA09103 | | EC 3.1.3.363 8 | | EC 3.1.38 |
Export aliases for SYNJ1 gene to outside databasesPrevious GC identifers: GC21M030580 GC21M030661 GC21M032921 GC21M032923 GC21M032922 GC21M019410 |
Summaries for SYNJ1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for SYNJ1: This gene encodes a phosphoinositide phosphatase that regulates levels of membranephosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission andmembrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Sep 2011) UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426Function: Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis
|
Genomic Views for SYNJ1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics, Whole Chromsome Sequence According to
Nature (Cited Here with Permission):405,311-319 and CroW21) About This Section
|
| GC21M033997: |
GeneLoc |
Nature:405,311-319 |
Start:
|
33,997,269 bp from pter |
19,577,707 bp from centromere |
End:
|
34,100,359 bp from pter |
19,649,002 bp from centromere |
Size:
|
103,091 bases |
71,296 bases |
Orientation:
|
minus strand |
minus strand |
Proteins for SYNJ1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426 (See
protein sequence)Recommended Name: Synaptojanin-1 Size: 1573 amino acids; 173103 Da
Subunit: Interacts with ASH/GRB2 (By similarity). Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3domain)
Subcellular location: Cytoplasm (By similarity)
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 Q4KMR1Alternative splicing: 4 isoforms: O43426-1 O43426-2 O43426-4 O43426-5 Explore the universe of human proteins at neXtProt for SYNJ1: NX_O43426
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O43426 4/24 DME Specific Peptides for SYNJ1 (O43426) (see all 24)
SYNJ1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001153774.1 NP_001153778.1 NP_003886.3 NP_982271.2 ENSEMBL proteins: ENSP00000419724 ENSP00000418680 ENSP00000417477 ENSP00000388869 ENSP00000371939 ENSP00000409667 ENSP00000387868 ENSP00000413480 ENSP00000413649 ENSP00000412707 ENSP00000371931 ENSP00000322234 ENSP00000349903 Reactome Protein details: O43426 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
SYNJ1 for ontologies About GeneDecksing
SYNJ1 Antibody Products: Assay Products for SYNJ1: |
Protein
Domains / Families for SYNJ1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SYNJ1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O43426ProtoNet protein and cluster: O43426 3 Blocks protein families: IPB000300 Inositol polyphosphate related phosphatase family IPB000504 RNA-binding region RNP-1 (RNA recognition motif) IPB002013 Synaptojanin
UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426Domain: 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 includingAMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2Similarity: Belongs to the synaptojanin familySimilarity: In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase familySimilarity: Contains 1 RRM (RNA recognition motif) domainSimilarity: Contains 1 SAC domain |
Function for SYNJ1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426Function: Inositol 5-phosphatase which has a role in clathrin-mediated endocytosisCatalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol4-phosphate + phosphateEnzyme Numbers (IUBMB): EC 3.1.3.361 2 EC 3.1.32
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYNJ1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYNJ1 (see all 6) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | 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 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNJ1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ1 |
Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
IEA | -- | | GO:0003676 | nucleic acid binding |
-- | -- | | GO:0003723 | RNA binding |
IEA | -- | | GO:0004437 | inositol or phosphatidylinositol phosphatase activity |
-- | -- | | GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
IEA | -- |
SYNJ1 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for SYNJ1: Animal Models: Mouse knock-out Synj1tm1Pdc for SYNJ1 4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Synj1):
SYNJ1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SYNJ1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | D-myo-inositol (1,3,4)-trisphosphate biosynthesis | | | 2 | Metabolism | | | 3 | Inositol phosphate metabolism | | | 4 | Synthesis of IP3 and IP4 in the cytosol | | | 5 | PI Metabolism | |
Pathway sources See GeneCards unified pathways Show all pathways
5/8 BioSystems Pathways for SYNJ1 (see all 8) 
5/8
Reactome Pathways for SYNJ1 (see all 8)
3
Kegg Pathways (Kegg details for SYNJ1):
SYNJ1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYNJ1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/94 Interacting proteins for SYNJ1 (O434262, 3 ENSP000003222344) via UniProtKB, MINT, STRING, and/or I2D (see all 94)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| AMPH | P494182, 3, ENSP000003486024 | MINT-8095961 MINT-16056 MINT-8095825 MINT-8095924 I2D:
score=4 STRING: ENSP00000348602 | | SNX9 | Q9Y5X12, 3, ENSP000003760244 | MINT-62869 MINT-62867 MINT-62870 MINT-62871 I2D:
score=1 STRING: ENSP00000376024 | | SH3GL1 | Q999612, 3, ENSP000002698864 | MINT-8096061 MINT-8096099 MINT-8096027 I2D:
score=3 STRING: ENSP00000269886 | | ITSN1 | Q158112, 3, ENSP000003707194 | MINT-7302524 I2D:
score=2 STRING: ENSP00000370719 | | NCK1 | P163332, 3, ENSP000002889864 | MINT-62872 I2D:
score=1 STRING: ENSP00000288986 | About this table
Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table | 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 |
-- | -- | | GO:0007420 | brain development |
-- | -- |
SYNJ1 for ontologies About GeneDecksing
|
Drugs & Compounds for SYNJ1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SYNJ1 for compounds About GeneDecksing
Browse Tocris compounds for SYNJ1
3 HMDB Compounds for SYNJ1 About this table 5 Novoseek chemical compound relationships for SYNJ1 gene About this table
Search CenterWatch for drugs/clinical trials and news about SYNJ1 
|
Transcripts for SYNJ1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| 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_20344615 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000479254 ENST00000490462 ENST00000478228 ENST00000438952 ENST00000382499(uc002yqi.2 uc002yqh.2) ENST00000433931 ENST00000418301 ENST00000416083 ENST00000467445 ENST00000464778 ENST00000429236 ENST00000456084 ENST00000382491(uc002yqg.2) ENST00000322229 ENST00000357345(uc002yqe.4 uc011ads.1 uc002yqf.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYNJ1 (see all 9) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYNJ1 (see all 6) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): SYNJ1 (NM_203446) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SYNJ1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNJ1  |
Additional cDNA 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 24/114 AceView cDNA sequences (see all 114): BQ024098 F13224 F09787 Z44564 BP350252 BM926828 AU131904 AB020717 AA593321 BE222406 BM704318 NM_003895 CA944966 BF940984 BF109166 T33181 AU136513 CA941718 BG545342 BC019630 AI887932 BF435122 BE220282 NM_203446 GeneLoc Exon Structure
5/7 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
|
Expression for SYNJ1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SYNJ1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TGACTAGTGT
About this image See SYNJ1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SYNJ1
SOURCE GeneReport for Unigene cluster: Hs.473632 UniProtKB/Swiss-Prot: SYNJ1_HUMAN, O43426Tissue specificity: Concentrated at clathrin-coated endocytic intermediates in nerve terminals. Isoform 1 is moreenriched than isoform 2 in developing brain as well as non-neuronal cells. Isoform 2 is very abundant in nerveterminals SABiosciences Custom PCR Arrays for SYNJ1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYNJ1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SYNJ1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNJ1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNJ1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ1 |
Orthologs for SYNJ1 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals and fungi.
Orthologs for SYNJ1 gene from 7/28 species (see all 28) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
SYNJ11 |
synaptojanin 1 |
77.96(n) 80.14(a) |
  |
418498 XM_416706.3 XP_416706.3 |
lizard (Anolis carolinensis) |
Reptilia |
SYNJ16-- |
-- |
78(a)12(a) |
1 ↔ 1possible ortholog |
3(145140399-145189822) 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 |
67.53(n) 74.53(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 53.31(n)1 52.27(a)1 |
  |
58B43 375171 NM_166505.11 NP_726155.11 |
worm (Caenorhabditis elegans) |
Secernentea |
unc-261 |
Protein UNC-26 |
52.03(n) 45.13(a) |
  |
178284 NM_001028095.2 NP_001023266.1 |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
INP521 |
Inp52p |
47.48(n) 39.46(a) |
  |
855618 NP_014293.1 |
ENSEMBL Gene Tree for SYNJ1 (if available) TreeFam Gene Tree for SYNJ1 (if available)  |
Paralogs for SYNJ1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SYNJ1 gene
- INPP5B2 INPP5J2 INPP5D2 OCRL2 INPP5K2 INPP5E2 INPPL12 SYNJ22
4 SIMAP similar genes for SYNJ1 using alignment to 12 protein entries: SYNJ1_HUMAN (see all proteins):SYNJ2 INPP5J SACM1L INPP5K
SYNJ1 for paralogs About GeneDecksing
|
Genomic Variants for SYNJ1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 21 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SYNJ1 (33997269 - 34100359 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SYNJ1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYNJ1 |
|
Disorders
/ Diseases for SYNJ1 gene
(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
|
SYNJ1 for disorders About GeneDecksing
OMIM gene information: 604297
OMIM disorders: --
6 diseases for SYNJ1: About MalaCardsoculocerebrorenal syndrome bipolar disorder down syndrome pharyngitis schizophrenia neuronitis 2 diseases from the University of Copenhagen DISEASES database for SYNJ1:Oculocerebrorenal syndrome Down syndrome 2 Novoseek 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
|
Publications for SYNJ1 gene (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)
About This Section
|
PubMed articles for SYNJ1 gene, integrated from 9 sources (see all 59): (articles sorted by number of sources associating them with SYNJ1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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. (1997)
- 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. (2001)
- 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. (1999)
- 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. (2002)
- The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
- 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. (2000)
- 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. (1998)
- Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. (PubMed id 14704270)1, 9 Lee S.Y....De Camilli P. (2004)
- EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1. (PubMed id 15821731)1, 9 Irie F....Yamaguchi Y. (2005)
- Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. (PubMed id 17257598)2, 9 Krendel M....Mooseker M.S. (2007)
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| Patent Information for SYNJ1 gene: Search GeneIP for patents involving SYNJ1
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