SYNJ1 synaptojanin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SYNJ1provided by HGNC
Official Full Name: synaptojanin 1provided by HGNC
Primary source: HGNC:HGNC:11503
See related: Ensembl:ENSG00000159082 MIM:604297
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EIEE53; INPP5G; PARK20
Summary: 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]
Expression: Broad expression in brain (RPKM 21.4), bone marrow (RPKM 6.6) and 22 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 21q22.11

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	21	NC_000021.9 (32628759..32731247, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (33997269..34100351, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Excess of rare putative functional variants at SYNJ1 in schizophrenia.
Title: Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.
This study identified a novel homozygous missense mutation (c.1376C > G, p.Arg459Pro) in SYNJ1 in an ARJP family from eastern India.
Title: Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses
Title: Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons.
Thus, synaptojanin is essential for macroautophagy within presynaptic terminals, coupling protein turnover with synaptic vesicle cycling and linking presynaptic-specific autophagy defects to Parkinson's disease.
Title: The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals.
SYNJ1 deficiency leads to early onset refractory seizures and progressive neurological decline.
Title: Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Mutations in SYNJ1 gene do not play a major role in early-onset or familial PD in our population.
Title: Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
This study demonstrated that SYNJ1 was significantly higher in Down syndrome and correlated with several measures of Abeta. SYNJ1 was higher in down syndrome with Alzheimer disease and significantly higher than SYNJ1 in sporadic Alzheimer disease.
Title: Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.
Studying PD genes as a network regulating synaptic activity could bring insight into understanding the neuropathological processes of PD and help identify new genes at fault in this devastating disorder.
Title: Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20.
Title: PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
the clinical progression of the Italian siblings with SYNJ1-related early-onset atypical parkinsonism seems to present a more severe progression in the early stages
Title: Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epileptic encephalopathy, early infantile, 53 MedGen: C4479313 OMIM: 617389 GeneReviews: Not available	Compare labs
Parkinson disease 20, early-onset MedGen: C3809824 OMIM: 615530 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), organism-specific biosystem (from BIOCYC)
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), organism-specific biosystemGeneral Background : MI-HEXAKISPHOSPHATE (phytate, phytic acid) is one of the most prevalent forms of phosphorylated inositols in the cell, with a total concentration of 15-100 μM . It's cellula...
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), conserved biosystem (from BIOCYC)
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), conserved biosystemGeneral Background |FRAME: MI-HEXAKISPHOSPHATE| (phytate, phytic acid) is one of the most prevalent forms of phosphorylated inositols in the eukaryotic cell, with a total concentration of 15-100 &m...
3-phosphoinositide degradation, organism-specific biosystem (from BIOCYC)
3-phosphoinositide degradation, organism-specific biosystem
3-phosphoinositide degradation
3-phosphoinositide degradation, conserved biosystem (from BIOCYC)
3-phosphoinositide degradation, conserved biosystem|FRAME: Phosphoinositides "Phosphoinositides"| play a key role in signal transduction in the eukaryotic cell, transmitting signals from the cell surface to modulate intracellular processes. The 3-pho...
Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, organism-specific biosystem: INOSITOL-1-4-5-TRISPHOSPHATE is a secondary messenger molecule used in signal transduction and lipid signaling. It mediates the biological response of a large number of hormones and neurotransmitte...
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, conserved biosystem (from BIOCYC)
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
D-myo-inositol (1,4,5)-trisphosphate degradation, organism-specific biosystem (from BIOCYC)
D-myo-inositol (1,4,5)-trisphosphate degradation, organism-specific biosystem: INOSITOL-1-4-5-TRISPHOSPHATE is a secondary messenger molecule used in signal transduction and lipid signaling. It mediates the biological response of a large number of hormones and neurotransmitte...
D-myo-inositol (1,4,5)-trisphosphate degradation, conserved biosystem (from BIOCYC)
D-myo-inositol (1,4,5)-trisphosphate degradation, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
EPHB forward signaling, organism-specific biosystem
EPHB forward signaling
Inositol phosphate metabolism, organism-specific biosystem (from KEGG)
Inositol phosphate metabolism, organism-specific biosystem
Inositol phosphate metabolism
Inositol phosphate metabolism, organism-specific biosystem (from REACTOME)
Inositol phosphate metabolism, organism-specific biosystemInositol phosphates (IPs) are molecules involves in signalling processes in eukaryotes. myo-Inositol consists of a six-carbon cyclic alcohol with an axial 2-hydroxy and five equatorial hydroxyls. M...
Inositol phosphate metabolism, conserved biosystem (from KEGG)
Inositol phosphate metabolism, conserved biosystem
Inositol phosphate metabolism
Internalization of ErbB1, organism-specific biosystem (from Pathway Interaction Database)
Internalization of ErbB1, organism-specific biosystem
Internalization of ErbB1
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
PI Metabolism, organism-specific biosystem (from REACTOME)
PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
Phosphatidylinositol signaling system, organism-specific biosystem (from KEGG)
Phosphatidylinositol signaling system, organism-specific biosystem
Phosphatidylinositol signaling system
Phosphatidylinositol signaling system, conserved biosystem (from KEGG)
Phosphatidylinositol signaling system, conserved biosystem
Phosphatidylinositol signaling system
Phospholipid metabolism, organism-specific biosystem (from REACTOME)
Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
Synthesis of IP2, IP, and Ins in the cytosol, organism-specific biosystem (from REACTOME)
Synthesis of IP2, IP, and Ins in the cytosol, organism-specific biosystemInositol phosphates IP2, IP and the six-carbon cyclic alcohol inositol (Ins) are produced by various phosphatases and the inositol-3-phosphate synthase 1 (ISYNA1) (Ju et al. 2004, Ohnishi et al. 2007...
Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystem (from REACTOME)
Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystemAn array of inositol trisphosphate (IP3) and tetrakisphosphate (IP4) molecules are synthesised by the action of various kinases and phosphatases in the cytosol (Irvine & Schell 2001, Bunney & Katan 2...
Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...
Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem (from BIOCYC)
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem (from BIOCYC)
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
superpathway of inositol phosphate compounds, organism-specific biosystem
superpathway of inositol phosphate compounds

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN81986 (e-PCR)
- UniSTS:406784

REN81987 (e-PCR)
- UniSTS:406785

REN81988 (e-PCR)
- UniSTS:406786

ECD23402 (e-PCR)
- UniSTS:304386

REN81989 (e-PCR)
- UniSTS:406787

REN81990 (e-PCR)
- UniSTS:406788

REN81991 (e-PCR)
- UniSTS:406789

REN81992 (e-PCR)
- UniSTS:406790

REN81993 (e-PCR)
- UniSTS:406791

REN81994 (e-PCR)
- UniSTS:406792

REN81995 (e-PCR)
- UniSTS:406793

ECD02820 (e-PCR)
- UniSTS:283913

REN81996 (e-PCR)
- UniSTS:406794

REN81997 (e-PCR)
- UniSTS:406795

REN81998 (e-PCR)
- UniSTS:406796

REN81999 (e-PCR)
- UniSTS:406797

REN82000 (e-PCR)
- UniSTS:406798

REN82001 (e-PCR)
- UniSTS:406799

ECD13902 (e-PCR)
- UniSTS:294927

REN82002 (e-PCR)
- UniSTS:406800

REN82003 (e-PCR)
- UniSTS:406801

REN82004 (e-PCR)
- UniSTS:406802

REN82005 (e-PCR)
- UniSTS:406803

ECD05417 (e-PCR)
- UniSTS:286483

ECD10820 (e-PCR)
- UniSTS:291859

ECD18016 (e-PCR)
- UniSTS:299027

REN82006 (e-PCR)
- UniSTS:406804

REN82007 (e-PCR)
- UniSTS:406805

REN82008 (e-PCR)
- UniSTS:406806

REN82009 (e-PCR)
- UniSTS:406807

REN82010 (e-PCR)
- UniSTS:406808

ECD10569 (e-PCR)
- UniSTS:291608

REN82011 (e-PCR)
- UniSTS:406809

REN82012 (e-PCR)
- UniSTS:406810

REN82013 (e-PCR)
- UniSTS:406811

REN82014 (e-PCR)
- UniSTS:406812

ECD11344 (e-PCR)
- UniSTS:292380

ECD24196 (e-PCR)
- UniSTS:305180

REN82015 (e-PCR)
- UniSTS:406813

ECD02064 (e-PCR)
- UniSTS:283165

ECD24453 (e-PCR)
- UniSTS:305437

REN82016 (e-PCR)
- UniSTS:406814

REN82017 (e-PCR)
- UniSTS:406815

REN82018 (e-PCR)
- UniSTS:406816

REN82019 (e-PCR)
- UniSTS:406817

REN82020 (e-PCR)
- UniSTS:406818

ECD01555 (e-PCR)
- UniSTS:282658

REN82021 (e-PCR)
- UniSTS:406819

ECD00524 (e-PCR)
- UniSTS:281635

ECD21374 (e-PCR)
- UniSTS:302371

REN82022 (e-PCR)
- UniSTS:406820

ECD04918 (e-PCR)
- UniSTS:285988

REN82023 (e-PCR)
- UniSTS:406821

REN82024 (e-PCR)
- UniSTS:406822

REN82025 (e-PCR)
- UniSTS:406823

REN82026 (e-PCR)
- UniSTS:406824

ECD03632 (e-PCR)
- UniSTS:284712

REN82027 (e-PCR)
- UniSTS:406825

REN82028 (e-PCR)
- UniSTS:406826

REN82029 (e-PCR)
- UniSTS:406827

REN82030 (e-PCR)
- UniSTS:406828

G19795 (e-PCR)
- UniSTS:17964

ECD15731 (e-PCR)
- UniSTS:296748

ECD20353 (e-PCR)
- UniSTS:301356

REN82031 (e-PCR)
- UniSTS:406829

A001Y37 (e-PCR)
- UniSTS:17965

ECD03376 (e-PCR)
- UniSTS:284461

REN82032 (e-PCR)
- UniSTS:406830

REN82033 (e-PCR)
- UniSTS:406831

REN82034 (e-PCR)
- UniSTS:406832

REN82035 (e-PCR)
- UniSTS:406833

REN82036 (e-PCR)
- UniSTS:406834

SHGC-52118 (e-PCR)
- UniSTS:74547

REN82037 (e-PCR)
- UniSTS:406835

REN82038 (e-PCR)
- UniSTS:406836

ECD23196 (e-PCR)
- UniSTS:304180

REN82039 (e-PCR)
- UniSTS:406837

REN82040 (e-PCR)
- UniSTS:406838

ECD01059 (e-PCR)
- UniSTS:282166

REN82041 (e-PCR)
- UniSTS:406839

ECD01317 (e-PCR)
- UniSTS:282423

REN82042 (e-PCR)
- UniSTS:406840

REN82043 (e-PCR)
- UniSTS:406841

ECD07516 (e-PCR)
- UniSTS:288569

ECD11373 (e-PCR)
- UniSTS:292409

REN82044 (e-PCR)
- UniSTS:406842

ECD08802 (e-PCR)
- UniSTS:289850

REN82045 (e-PCR)
- UniSTS:406843

ECD04684 (e-PCR)
- UniSTS:285755

ECD17799 (e-PCR)
- UniSTS:298811

REN82046 (e-PCR)
- UniSTS:406844

REN82047 (e-PCR)
- UniSTS:406845

REN82048 (e-PCR)
- UniSTS:406846

REN82049 (e-PCR)
- UniSTS:406847

REN82050 (e-PCR)
- UniSTS:406848

REN82051 (e-PCR)
- UniSTS:406849

ECD21404 (e-PCR)
- UniSTS:302401

REN82052 (e-PCR)
- UniSTS:406850

REN82053 (e-PCR)
- UniSTS:406851

REN81798 (e-PCR)
- UniSTS:406596

REN82054 (e-PCR)
- UniSTS:406852

ECD16013 (e-PCR)
- UniSTS:297028

REN81799 (e-PCR)
- UniSTS:406597

REN82055 (e-PCR)
- UniSTS:406853

REN81800 (e-PCR)
- UniSTS:406598

REN82056 (e-PCR)
- UniSTS:406854

REN81801 (e-PCR)
- UniSTS:406599

REN82057 (e-PCR)
- UniSTS:406855

ECD13184 (e-PCR)
- UniSTS:294215

REN81802 (e-PCR)
- UniSTS:406600

REN82058 (e-PCR)
- UniSTS:406856

REN81803 (e-PCR)
- UniSTS:406601

REN82059 (e-PCR)
- UniSTS:406857

REN81804 (e-PCR)
- UniSTS:406602

REN82060 (e-PCR)
- UniSTS:406858

REN81805 (e-PCR)
- UniSTS:406603

REN82061 (e-PCR)
- UniSTS:406859

REN81806 (e-PCR)
- UniSTS:406604

REN82062 (e-PCR)
- UniSTS:406860

ECD11907 (e-PCR)
- UniSTS:292940

REN81807 (e-PCR)
- UniSTS:406605

REN82063 (e-PCR)
- UniSTS:406861

REN81808 (e-PCR)
- UniSTS:406606

REN82064 (e-PCR)
- UniSTS:406862

REN81809 (e-PCR)
- UniSTS:406607

REN82065 (e-PCR)
- UniSTS:406863

ECD12678 (e-PCR)
- UniSTS:293711

REN81810 (e-PCR)
- UniSTS:406608

REN82066 (e-PCR)
- UniSTS:406864

ECD06764 (e-PCR)
- UniSTS:287824

REN81811 (e-PCR)
- UniSTS:406609

REN82067 (e-PCR)
- UniSTS:406865

REN81812 (e-PCR)
- UniSTS:406610

REN82068 (e-PCR)
- UniSTS:406866

REN81813 (e-PCR)
- UniSTS:406611

REN82069 (e-PCR)
- UniSTS:406867

ECD12170 (e-PCR)
- UniSTS:293203

ECD23227 (e-PCR)
- UniSTS:304211

REN81814 (e-PCR)
- UniSTS:406612

REN82070 (e-PCR)
- UniSTS:406868

REN81815 (e-PCR)
- UniSTS:406613

REN82071 (e-PCR)
- UniSTS:406869

REN81816 (e-PCR)
- UniSTS:406614

REN82072 (e-PCR)
- UniSTS:406870

REN81817 (e-PCR)
- UniSTS:406615

REN82073 (e-PCR)
- UniSTS:406871

REN81818 (e-PCR)
- UniSTS:406616

REN82074 (e-PCR)
- UniSTS:406872

REN81819 (e-PCR)
- UniSTS:406617

REN82075 (e-PCR)
- UniSTS:406873

REN81820 (e-PCR)
- UniSTS:406618

REN82076 (e-PCR)
- UniSTS:406874

ECD13977 (e-PCR)
- UniSTS:295002

REN81821 (e-PCR)
- UniSTS:406619

REN82077 (e-PCR)
- UniSTS:406875

ECD07292 (e-PCR)
- UniSTS:288347

REN81822 (e-PCR)
- UniSTS:406620

REN82078 (e-PCR)
- UniSTS:406876

REN81823 (e-PCR)
- UniSTS:406621

REN82079 (e-PCR)
- UniSTS:406877

REN81824 (e-PCR)
- UniSTS:406622

REN82080 (e-PCR)
- UniSTS:406878

REN81825 (e-PCR)
- UniSTS:406623

REN82081 (e-PCR)
- UniSTS:406879

REN81826 (e-PCR)
- UniSTS:406624

REN82082 (e-PCR)
- UniSTS:406880

ECD01618 (e-PCR)
- UniSTS:282720

ECD02650 (e-PCR)
- UniSTS:283744

REN81827 (e-PCR)
- UniSTS:406625

REN82083 (e-PCR)
- UniSTS:406881

REN81828 (e-PCR)
- UniSTS:406626

REN82084 (e-PCR)
- UniSTS:406882

REN81829 (e-PCR)
- UniSTS:406627

REN82085 (e-PCR)
- UniSTS:406883

ECD18865 (e-PCR)
- UniSTS:299875

REN81830 (e-PCR)
- UniSTS:406628

REN82086 (e-PCR)
- UniSTS:406884

ECD04984 (e-PCR)
- UniSTS:286052

REN81831 (e-PCR)
- UniSTS:406629

REN82087 (e-PCR)
- UniSTS:406885

REN81832 (e-PCR)
- UniSTS:406630

REN82088 (e-PCR)
- UniSTS:406886

ECD01107 (e-PCR)
- UniSTS:282214

REN81833 (e-PCR)
- UniSTS:406631

REN82089 (e-PCR)
- UniSTS:406887

ECD13731 (e-PCR)
- UniSTS:294759

REN81834 (e-PCR)
- UniSTS:406632

REN82090 (e-PCR)
- UniSTS:406888

ECD23504 (e-PCR)
- UniSTS:304488

REN81835 (e-PCR)
- UniSTS:406633

REN82091 (e-PCR)
- UniSTS:406889

ECD23505 (e-PCR)
- UniSTS:304489

REN81836 (e-PCR)
- UniSTS:406634

REN82092 (e-PCR)
- UniSTS:406890

REN81837 (e-PCR)
- UniSTS:406635

REN82093 (e-PCR)
- UniSTS:406891

REN81838 (e-PCR)
- UniSTS:406636

REN82094 (e-PCR)
- UniSTS:406892

REN81839 (e-PCR)
- UniSTS:406637

REN82095 (e-PCR)
- UniSTS:406893

REN81840 (e-PCR)
- UniSTS:406638

REN82096 (e-PCR)
- UniSTS:406894

REN81841 (e-PCR)
- UniSTS:406639

REN82097 (e-PCR)
- UniSTS:406895

REN81842 (e-PCR)
- UniSTS:406640

REN82098 (e-PCR)
- UniSTS:406896

ECD12711 (e-PCR)
- UniSTS:293744

REN81843 (e-PCR)
- UniSTS:406641

REN82099 (e-PCR)
- UniSTS:406897

REN81844 (e-PCR)
- UniSTS:406642

REN82100 (e-PCR)
- UniSTS:406898

REN81845 (e-PCR)
- UniSTS:406643

REN82101 (e-PCR)
- UniSTS:406899

REN81846 (e-PCR)
- UniSTS:406644

REN82102 (e-PCR)
- UniSTS:406900

REN81847 (e-PCR)
- UniSTS:406645

REN82103 (e-PCR)
- UniSTS:406901

REN81848 (e-PCR)
- UniSTS:406646

REN82104 (e-PCR)
- UniSTS:406902

REN81849 (e-PCR)
- UniSTS:406647

REN82105 (e-PCR)
- UniSTS:406903

REN81850 (e-PCR)
- UniSTS:406648

REN82106 (e-PCR)
- UniSTS:406904

REN81851 (e-PCR)
- UniSTS:406649

REN82107 (e-PCR)
- UniSTS:406905

REN81852 (e-PCR)
- UniSTS:406650

REN82108 (e-PCR)
- UniSTS:406906

REN81853 (e-PCR)
- UniSTS:406651

REN82109 (e-PCR)
- UniSTS:406907

REN81854 (e-PCR)
- UniSTS:406652

REN82110 (e-PCR)
- UniSTS:406908

REN81855 (e-PCR)
- UniSTS:406653

REN82111 (e-PCR)
- UniSTS:406909

ECD00358 (e-PCR)
- UniSTS:281469

REN81856 (e-PCR)
- UniSTS:406654

REN82112 (e-PCR)
- UniSTS:406910

ECD06811 (e-PCR)
- UniSTS:287870

ECD16071 (e-PCR)
- UniSTS:297086

REN81857 (e-PCR)
- UniSTS:406655

REN82113 (e-PCR)
- UniSTS:406911

REN81858 (e-PCR)
- UniSTS:406656

REN82114 (e-PCR)
- UniSTS:406912

REN81859 (e-PCR)
- UniSTS:406657

REN82115 (e-PCR)
- UniSTS:406913

REN81860 (e-PCR)
- UniSTS:406658

REN82116 (e-PCR)
- UniSTS:406914

REN81861 (e-PCR)
- UniSTS:406659

REN82117 (e-PCR)
- UniSTS:406915

REN81862 (e-PCR)
- UniSTS:406660

REN82118 (e-PCR)
- UniSTS:406916

REN81863 (e-PCR)
- UniSTS:406661

REN82119 (e-PCR)
- UniSTS:406917

REN81864 (e-PCR)
- UniSTS:406662

REN82120 (e-PCR)
- UniSTS:406918

REN81865 (e-PCR)
- UniSTS:406663

REN82121 (e-PCR)
- UniSTS:406919

ECD02948 (e-PCR)
- UniSTS:284039

REN81866 (e-PCR)
- UniSTS:406664

REN82122 (e-PCR)
- UniSTS:406920

ECD17876 (e-PCR)
- UniSTS:298888

REN81867 (e-PCR)
- UniSTS:406665

REN82123 (e-PCR)
- UniSTS:406921

REN81868 (e-PCR)
- UniSTS:406666

REN82124 (e-PCR)
- UniSTS:406922

ECD17365 (e-PCR)
- UniSTS:298378

REN81869 (e-PCR)
- UniSTS:406667

REN82125 (e-PCR)
- UniSTS:406923

ECD04507 (e-PCR)
- UniSTS:285579

ECD17366 (e-PCR)
- UniSTS:298379

REN81870 (e-PCR)
- UniSTS:406668

REN82126 (e-PCR)
- UniSTS:406924

ECD22256 (e-PCR)
- UniSTS:303244

REN81871 (e-PCR)
- UniSTS:406669

REN82127 (e-PCR)
- UniSTS:406925

ECD07083 (e-PCR)
- UniSTS:288141

REN81872 (e-PCR)
- UniSTS:406670

REN82128 (e-PCR)
- UniSTS:406926

REN81873 (e-PCR)
- UniSTS:406671

REN82129 (e-PCR)
- UniSTS:406927

REN81874 (e-PCR)
- UniSTS:406672

REN82130 (e-PCR)
- UniSTS:406928

REN81875 (e-PCR)
- UniSTS:406673

REN82131 (e-PCR)
- UniSTS:406929

REN81876 (e-PCR)
- UniSTS:406674

REN82132 (e-PCR)
- UniSTS:406930

REN81877 (e-PCR)
- UniSTS:406675

REN82133 (e-PCR)
- UniSTS:406931

REN81878 (e-PCR)
- UniSTS:406676

REN82134 (e-PCR)
- UniSTS:406932

D21S391 (e-PCR)
- UniSTS:147860

ECD11208 (e-PCR)
- UniSTS:292244

REN81879 (e-PCR)
- UniSTS:406677

REN82135 (e-PCR)
- UniSTS:406933

REN81880 (e-PCR)
- UniSTS:406678

REN82136 (e-PCR)
- UniSTS:406934

ECD02186 (e-PCR)
- UniSTS:283286

ECD14810 (e-PCR)
- UniSTS:295830

REN81881 (e-PCR)
- UniSTS:406679

REN82137 (e-PCR)
- UniSTS:406935

REN81882 (e-PCR)
- UniSTS:406680

REN82138 (e-PCR)
- UniSTS:406936

REN81883 (e-PCR)
- UniSTS:406681

REN82139 (e-PCR)
- UniSTS:406937

REN81884 (e-PCR)
- UniSTS:406682

REN82140 (e-PCR)
- UniSTS:406938

REN81885 (e-PCR)
- UniSTS:406683

REN82141 (e-PCR)
- UniSTS:406939

REN81886 (e-PCR)
- UniSTS:406684

REN82142 (e-PCR)
- UniSTS:406940

ECD16101 (e-PCR)
- UniSTS:297116

REN81887 (e-PCR)
- UniSTS:406685

REN82143 (e-PCR)
- UniSTS:406941

ECD03491 (e-PCR)
- UniSTS:284573

REN81888 (e-PCR)
- UniSTS:406686

REN82144 (e-PCR)
- UniSTS:406942

REN81889 (e-PCR)
- UniSTS:406687

REN82145 (e-PCR)
- UniSTS:406943

REN81890 (e-PCR)
- UniSTS:406688

REN82146 (e-PCR)
- UniSTS:406944

REN81891 (e-PCR)
- UniSTS:406689

REN82147 (e-PCR)
- UniSTS:406945

REN81892 (e-PCR)
- UniSTS:406690

REN82148 (e-PCR)
- UniSTS:406946

REN81893 (e-PCR)
- UniSTS:406691

REN82149 (e-PCR)
- UniSTS:406947

REN81894 (e-PCR)
- UniSTS:406692

REN82150 (e-PCR)
- UniSTS:406948

REN81895 (e-PCR)
- UniSTS:406693

REN82151 (e-PCR)
- UniSTS:406949

ECD19704 (e-PCR)
- UniSTS:300709

REN81896 (e-PCR)
- UniSTS:406694

REN82152 (e-PCR)
- UniSTS:406950

REN81897 (e-PCR)
- UniSTS:406695

REN82153 (e-PCR)
- UniSTS:406951

REN81898 (e-PCR)
- UniSTS:406696

REN82154 (e-PCR)
- UniSTS:406952

SHGC-170094 (e-PCR)
- UniSTS:173736

WI-12617 (e-PCR)
- UniSTS:7081

REN81899 (e-PCR)
- UniSTS:406697

REN82155 (e-PCR)
- UniSTS:406953

REN81900 (e-PCR)
- UniSTS:406698

REN82156 (e-PCR)
- UniSTS:406954

REN81901 (e-PCR)
- UniSTS:406699

REN82157 (e-PCR)
- UniSTS:406955

ECD01694 (e-PCR)
- UniSTS:282795

REN81902 (e-PCR)
- UniSTS:406700

REN82158 (e-PCR)
- UniSTS:406956

REN81903 (e-PCR)
- UniSTS:406701

REN82159 (e-PCR)
- UniSTS:406957

REN81904 (e-PCR)
- UniSTS:406702

REN82160 (e-PCR)
- UniSTS:406958

REN81905 (e-PCR)
- UniSTS:406703

REN82161 (e-PCR)
- UniSTS:406959

REN81906 (e-PCR)
- UniSTS:406704

REN82162 (e-PCR)
- UniSTS:406960

REN81907 (e-PCR)
- UniSTS:406705

REN82163 (e-PCR)
- UniSTS:406961

REN81908 (e-PCR)
- UniSTS:406706

REN82164 (e-PCR)
- UniSTS:406962

REN81909 (e-PCR)
- UniSTS:406707

REN82165 (e-PCR)
- UniSTS:406963

ECD24091 (e-PCR)
- UniSTS:305075

REN81910 (e-PCR)
- UniSTS:406708

REN82166 (e-PCR)
- UniSTS:406964

REN81911 (e-PCR)
- UniSTS:406709

REN82167 (e-PCR)
- UniSTS:406965

REN81912 (e-PCR)
- UniSTS:406710

REN82168 (e-PCR)
- UniSTS:406966

REN81913 (e-PCR)
- UniSTS:406711

REN82169 (e-PCR)
- UniSTS:406967

ECD22040 (e-PCR)
- UniSTS:303031

REN81914 (e-PCR)
- UniSTS:406712

REN82170 (e-PCR)
- UniSTS:406968

REN81915 (e-PCR)
- UniSTS:406713

REN82171 (e-PCR)
- UniSTS:406969

REN81916 (e-PCR)
- UniSTS:406714

REN82172 (e-PCR)
- UniSTS:406970

REN81917 (e-PCR)
- UniSTS:406715

REN82173 (e-PCR)
- UniSTS:406971

REN81918 (e-PCR)
- UniSTS:406716

REN82174 (e-PCR)
- UniSTS:406972

REN81919 (e-PCR)
- UniSTS:406717

REN82175 (e-PCR)
- UniSTS:406973

REN81920 (e-PCR)
- UniSTS:406718

REN82176 (e-PCR)
- UniSTS:406974

ECD01969 (e-PCR)
- UniSTS:283070

REN81921 (e-PCR)
- UniSTS:406719

REN82177 (e-PCR)
- UniSTS:406975

REN81922 (e-PCR)
- UniSTS:406720

REN82178 (e-PCR)
- UniSTS:406976

stSG606545 (e-PCR)
- UniSTS:446144

REN81923 (e-PCR)
- UniSTS:406721

REN82179 (e-PCR)
- UniSTS:406977

ECD12793 (e-PCR)
- UniSTS:293825

stSG606546 (e-PCR)
- UniSTS:446145

REN81924 (e-PCR)
- UniSTS:406722

REN82180 (e-PCR)
- UniSTS:406978

REN81925 (e-PCR)
- UniSTS:406723

REN82181 (e-PCR)
- UniSTS:406979

REN81926 (e-PCR)
- UniSTS:406724

REN82182 (e-PCR)
- UniSTS:406980

REN81927 (e-PCR)
- UniSTS:406725

REN82183 (e-PCR)
- UniSTS:406981

REN81928 (e-PCR)
- UniSTS:406726

REN82184 (e-PCR)
- UniSTS:406982

ECD04304 (e-PCR)
- UniSTS:285382

ECD16912 (e-PCR)
- UniSTS:297926

REN81929 (e-PCR)
- UniSTS:406727

REN82185 (e-PCR)
- UniSTS:406983

REN81930 (e-PCR)
- UniSTS:406728

REN82186 (e-PCR)
- UniSTS:406984

ECD06114 (e-PCR)
- UniSTS:287176

REN81931 (e-PCR)
- UniSTS:406729

REN82187 (e-PCR)
- UniSTS:406985

ECD21284 (e-PCR)
- UniSTS:302281

REN81932 (e-PCR)
- UniSTS:406730

REN82188 (e-PCR)
- UniSTS:406986

REN81933 (e-PCR)
- UniSTS:406731

REN82189 (e-PCR)
- UniSTS:406987

REN81934 (e-PCR)
- UniSTS:406732

REN82190 (e-PCR)
- UniSTS:406988

REN81935 (e-PCR)
- UniSTS:406733

REN82191 (e-PCR)
- UniSTS:406989

ECD06375 (e-PCR)
- UniSTS:287437

REN81936 (e-PCR)
- UniSTS:406734

REN82192 (e-PCR)
- UniSTS:406990

REN82193 (e-PCR)
- UniSTS:406991

REN82194 (e-PCR)
- UniSTS:406992

ECD07409 (e-PCR)
- UniSTS:288464

REN81939 (e-PCR)
- UniSTS:406737

REN82195 (e-PCR)
- UniSTS:406993

REN82196 (e-PCR)
- UniSTS:406994

REN82197 (e-PCR)
- UniSTS:406995

REN82198 (e-PCR)
- UniSTS:406996

ECD06898 (e-PCR)
- UniSTS:287956

REN81943 (e-PCR)
- UniSTS:406741

REN82199 (e-PCR)
- UniSTS:406997

ECD07674 (e-PCR)
- UniSTS:288725

REN81944 (e-PCR)
- UniSTS:406742

REN82200 (e-PCR)
- UniSTS:406998

ECD10759 (e-PCR)
- UniSTS:291798

REN82201 (e-PCR)
- UniSTS:406999

stSG606569 (e-PCR)
- UniSTS:446167

REN81946 (e-PCR)
- UniSTS:406744

REN82202 (e-PCR)
- UniSTS:407000

REN81947 (e-PCR)
- UniSTS:406745

REN82203 (e-PCR)
- UniSTS:407001

REN81948 (e-PCR)
- UniSTS:406746

REN82204 (e-PCR)
- UniSTS:407002

REN81949 (e-PCR)
- UniSTS:406747

REN82205 (e-PCR)
- UniSTS:407003

ECD17960 (e-PCR)
- UniSTS:298971

REN81950 (e-PCR)
- UniSTS:406748

REN82206 (e-PCR)
- UniSTS:407004

REN81951 (e-PCR)
- UniSTS:406749

REN82207 (e-PCR)
- UniSTS:407005

ECD12052 (e-PCR)
- UniSTS:293085

REN81952 (e-PCR)
- UniSTS:406750

REN82208 (e-PCR)
- UniSTS:407006

REN81953 (e-PCR)
- UniSTS:406751

REN82209 (e-PCR)
- UniSTS:407007

REN82210 (e-PCR)
- UniSTS:407008

ECD01229 (e-PCR)
- UniSTS:282336

REN81955 (e-PCR)
- UniSTS:406753

REN82211 (e-PCR)
- UniSTS:407009

ECD03041 (e-PCR)
- UniSTS:284129

REN81956 (e-PCR)
- UniSTS:406754

REN82212 (e-PCR)
- UniSTS:407010

REN81957 (e-PCR)
- UniSTS:406755

REN82213 (e-PCR)
- UniSTS:407011

ECD19510 (e-PCR)
- UniSTS:300515

REN81958 (e-PCR)
- UniSTS:406756

REN82214 (e-PCR)
- UniSTS:407012

REN81959 (e-PCR)
- UniSTS:406757

REN82215 (e-PCR)
- UniSTS:407013

REN81960 (e-PCR)
- UniSTS:406758

REN82216 (e-PCR)
- UniSTS:407014

REN81961 (e-PCR)
- UniSTS:406759

REN82217 (e-PCR)
- UniSTS:407015

ECD13862 (e-PCR)
- UniSTS:294887

REN81962 (e-PCR)
- UniSTS:406760

REN82218 (e-PCR)
- UniSTS:407016

REN81963 (e-PCR)
- UniSTS:406761

REN82219 (e-PCR)
- UniSTS:407017

REN81964 (e-PCR)
- UniSTS:406762

REN82220 (e-PCR)
- UniSTS:407018

REN81965 (e-PCR)
- UniSTS:406763

REN82221 (e-PCR)
- UniSTS:407019

REN81966 (e-PCR)
- UniSTS:406764

REN82222 (e-PCR)
- UniSTS:407020

REN81967 (e-PCR)
- UniSTS:406765

REN82223 (e-PCR)
- UniSTS:407021

REN81968 (e-PCR)
- UniSTS:406766

REN82224 (e-PCR)
- UniSTS:407022

REN81969 (e-PCR)
- UniSTS:406767

REN82225 (e-PCR)
- UniSTS:407023

REN81970 (e-PCR)
- UniSTS:406768

REN82226 (e-PCR)
- UniSTS:407024

ECD16441 (e-PCR)
- UniSTS:297456

REN81971 (e-PCR)
- UniSTS:406769

REN82227 (e-PCR)
- UniSTS:407025

ECD17982 (e-PCR)
- UniSTS:298993

SHGC-52050 (e-PCR)
- UniSTS:42737

SHGC-87598 (e-PCR)
- UniSTS:5618

REN81972 (e-PCR)
- UniSTS:406770

REN82228 (e-PCR)
- UniSTS:407026

REN81973 (e-PCR)
- UniSTS:406771

REN81974 (e-PCR)
- UniSTS:406772

REN81975 (e-PCR)
- UniSTS:406773

ECD02281 (e-PCR)
- UniSTS:283381

REN81976 (e-PCR)
- UniSTS:406774

REN81977 (e-PCR)
- UniSTS:406775

ECD17218 (e-PCR)
- UniSTS:298231

REN81978 (e-PCR)
- UniSTS:406776

ECD02027 (e-PCR)
- UniSTS:283128

REN81979 (e-PCR)
- UniSTS:406777

ECD16194 (e-PCR)
- UniSTS:297209

REN81980 (e-PCR)
- UniSTS:406778

ECD08738 (e-PCR)
- UniSTS:289786

REN81981 (e-PCR)
- UniSTS:406779

ECD11311 (e-PCR)
- UniSTS:292347

REN81982 (e-PCR)
- UniSTS:406780

REN81983 (e-PCR)
- UniSTS:406781

REN81984 (e-PCR)
- UniSTS:406782

REN81985 (e-PCR)
- UniSTS:406783

Homology

Homologs of the SYNJ1 gene: The SYNJ1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 247 organisms have orthologs with human gene SYNJ1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
SH3 domain binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol phosphate 4-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol phosphate 5-phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol-3-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-3-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS Traceable Author Statement more info
phosphatidylinositol-4-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
brain development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
inositol phosphate dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
inositol phosphate dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
inositol phosphate metabolic process	TAS Traceable Author Statement more info
learning	IBA Inferred from Biological aspect of Ancestor more info	PubMed
learning	IMP Inferred from Mutant Phenotype more info	PubMed
membrane organization	TAS Traceable Author Statement more info
neurotransmitter transport	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol dephosphorylation	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
phosphatidylinositol-3-phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
synaptic vesicle endocytosis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
synaptic vesicle endocytosis	IGI Inferred from Genetic Interaction more info	PubMed
synaptic vesicle endocytosis	ISS Inferred from Sequence or Structural Similarity more info
synaptic vesicle priming	ISS Inferred from Sequence or Structural Similarity more info
synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
synaptic vesicle uncoating	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
clathrin coat of coated pit	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytosol	TAS Traceable Author Statement more info
membrane coat	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with microtubule	ISS Inferred from Sequence or Structural Similarity more info	PubMed
perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
postsynapse	IEA Inferred from Electronic Annotation more info
presynapse	IBA Inferred from Biological aspect of Ancestor more info	PubMed
presynapse	IDA Inferred from Direct Assay more info	PubMed
synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
terminal bouton	ISS Inferred from Sequence or Structural Similarity more info
vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: synaptojanin-1

Names: inositol 5'-phosphatase (synaptojanin 1); inositol polyphosphate-5-phosphatase G; phosphoinositide 5-phosphatase; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; synaptojanin-1, polyphosphoinositide phosphatase

NP_001153774.1

EC 3.1.3.36

NP_001153778.1

EC 3.1.3.36

NP_003886.3

EC 3.1.3.36

NP_982271.2

EC 3.1.3.36

XP_016883983.1

EC 3.1.3.36

XP_016883984.1

EC 3.1.3.36

XP_016883985.1

EC 3.1.3.36

XP_016883986.1

EC 3.1.3.36

XP_016883987.1

EC 3.1.3.36

XP_016883988.1

EC 3.1.3.36

XP_016883989.1

EC 3.1.3.36

XP_016883990.1

EC 3.1.3.36

XP_016883991.1

EC 3.1.3.36

XP_016883992.1

EC 3.1.3.36

XP_016883993.1

EC 3.1.3.36

XP_016883994.1

EC 3.1.3.36

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030017.1 RefSeqGene

Range

5001..104283

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001160302.1 → NP_001153774.1 synaptojanin-1 isoform c

See identical proteins and their annotated locations for NP_001153774.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, 5' coding region and 3' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, a distinct C-terminus, and is shorter than isoform a.

Source sequence(s)

AB020717, AP000275, BP350252, CA944966

Consensus CDS

CCDS54483.1

UniProtKB/Swiss-Prot

O43426

Related

ENSP00000349903.3, ENST00000357345.7

Conserved Domains (5) summary

cd09098
Location:533 → 868

INPP5c_Synj1; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 1

PRK05641
Location:1017 → 1097

PRK05641; putative acetyl-CoA carboxylase biotin carboxyl carrier protein subunit; Validated

pfam02383
Location:60 → 340

Syja_N; SacI homology domain

pfam08952
Location:867 → 1008

DUF1866; Domain of unknown function (DUF1866)

pfam11235
Location:1078 → 1262

Med25_SD1; Mediator complex subunit 25 synapsin 1
NM_001160306.1 → NP_001153778.1 synaptojanin-1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, uses a downstream translational start codon, and has multiple differences in the coding region, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, a distinct C-terminus, and is shorter than isoform a.

Source sequence(s)

AB020717, BC098395, BC136603, BP350252, CA944966

Consensus CDS

CCDS54484.1

UniProtKB/Swiss-Prot

O43426

UniProtKB/TrEMBL

A0A0D9SGJ6, B9EGN3

Related

ENSP00000487560.1, ENST00000630077.2

Conserved Domains (4) summary

cd09098
Location:528 → 863

INPP5c_Synj1; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 1

pfam02383
Location:60 → 340

Syja_N; SacI homology domain

pfam08952
Location:862 → 1003

DUF1866; Domain of unknown function (DUF1866)

pfam11235
Location:1054 → 1231

Med25_SD1; Mediator complex subunit 25 synapsin 1
NM_003895.3 → NP_003886.3 synaptojanin-1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AB020717, AF009040, AP000279, BC019630, CA944966, DB071394

Consensus CDS

CCDS33539.2

UniProtKB/Swiss-Prot

O43426

UniProtKB/TrEMBL

J3KQV8, Q05CZ1

Related

ENSP00000409667.2, ENST00000433931.6

Conserved Domains (3) summary

cd09098
Location:572 → 907

INPP5c_Synj1; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 1

pfam02383
Location:99 → 379

Syja_N; SacI homology domain

pfam08952
Location:906 → 1047

DUF1866; Domain of unknown function (DUF1866)
NM_203446.2 → NP_982271.2 synaptojanin-1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region that causes a frameshift, compared to variant 1. The encoded isoform (b) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

AB020717, AF009039, AP000279, BC019630, CA944966, DB071394

Consensus CDS

CCDS33540.2

UniProtKB/Swiss-Prot

O43426

UniProtKB/TrEMBL

C9JFZ1, Q05CZ1

Related

ENSP00000371939.2, ENST00000382499.6

Conserved Domains (3) summary

cd09098
Location:572 → 907

INPP5c_Synj1; Catalytic inositol polyphosphate 5-phosphatase (INPP5c) domain of synaptojanin 1

pfam02383
Location:99 → 379

Syja_N; SacI homology domain

pfam08952
Location:906 → 1047

DUF1866; Domain of unknown function (DUF1866)