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UniProtKB - O43426 (SYNJ1_HUMAN)

Entry version 190 (16 Oct 2019)
Sequence version 2 (25 Nov 2008)
Previous versions | rss
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Protein

Synaptojanin-1

Gene

SYNJ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, RNA-binding
Biological processEndocytosis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS08354-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-8856828 Clathrin-mediated endocytosis

SIGNOR Signaling Network Open Resource

More...SIGNORi		O43426

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Synaptojanin-1 (EC:3.1.3.36)
Alternative name(s):
Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SYNJ1
Synonyms:KIAA0910
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11503 SYNJ1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604297 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43426

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Parkinson disease 20, early-onset (PARK20)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070905219R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 Publications1
Natural variantiVAR_078803420R → P in PARK20. 1 Publication1
Natural variantiVAR_0709061383S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 Publication1
Epileptic encephalopathy, early infantile, 53 (EIEE53)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078804849Y → C in EIEE53; decreased inositol phosphate phosphatase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNET

More...DisGeNETi		8867

MalaCards human disease database

More...MalaCardsi		SYNJ1
MIMi615530 phenotype
617389 phenotype

Open Targets

More...OpenTargetsi		ENSG00000159082

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		391411 Atypical juvenile parkinsonism
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36285

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43426

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SYNJ1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002097301 – 1573Synaptojanin-1Add BLAST1573

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei820PhosphoserineBy similarity1
Modified residuei830PhosphoserineCombined sources1
Modified residuei1053PhosphoserineBy similarity1
Modified residuei1150PhosphoserineBy similarity1
Modified residuei1178PhosphoserineBy similarity1
Modified residuei1201Omega-N-methylarginineBy similarity1
Modified residuei1220PhosphothreonineCombined sources1
Modified residuei1292PhosphoserineCombined sources1
Modified residuei1318PhosphoserineCombined sources1
Modified residuei1345PhosphoserineCombined sources1
Modified residuei1349PhosphothreonineBy similarity1
Modified residuei1551PhosphoserineCombined sources1
Modified residuei1565PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43426

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43426

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43426

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43426

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O43426

PeptideAtlas

More...PeptideAtlasi		O43426

PRoteomics IDEntifications database

More...PRIDEi		O43426

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48937 [O43426-1]
48938 [O43426-2]
48939 [O43426-4]
48940 [O43426-5]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		O43426

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43426

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O43426

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159082 Expressed in 219 organ(s), highest expression level in Brodmann (1909) area 23

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43426 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43426 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA011916

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114388, 22 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O43426

Protein interaction database and analysis system

More...IntActi		O43426, 14 interactors

Molecular INTeraction database

More...MINTi		O43426

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000409667

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11573
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O43426

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O43426

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini119 – 442SACPROSITE-ProRule annotationAdd BLAST324
Domaini902 – 971RRMPROSITE-ProRule annotationAdd BLAST70
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1396 – 139813
Repeati1406 – 140823
Repeati1417 – 141933

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni500 – 899CatalyticSequence analysisAdd BLAST400
Regioni1396 – 14193 X 3 AA repeats of N-P-FAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi900 – 1573Pro-richAdd BLAST674
Compositional biasi1033 – 1036Poly-Ser4
Compositional biasi1108 – 1113Poly-Pro6
Compositional biasi1126 – 1129Poly-Pro4
Compositional biasi1485 – 1488Poly-Glu4
Compositional biasi1538 – 1544Poly-Pro7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds to EPS15 (a clathrin coat-associated protein) via a C-terminal domain containing three Asn-Pro-Phe (NPF) repeats.By similarity
The C-terminal proline-rich region mediates binding to a variety of SH3 domain-containing proteins including AMPH, SH3GL1, SH3GL2, SH3GL3 and GRB2.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the synaptojanin family.Curated
In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0566 Eukaryota
COG5329 LUCA
COG5411 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157964

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007937

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43426

KEGG Orthology (KO)

More...KOi		K20279

Database of Orthologous Groups

More...OrthoDBi		359616at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43426

Family and domain databases

Conserved Domains Database

More...CDDi		cd12719 RRM_SYNJ1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.330, 1 hit
3.60.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015047 DUF1866
IPR036691 Endo/exonu/phosph_ase_sf
IPR005135 Endo/exonuclease/phosphatase
IPR000300 IPPc
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR002013 SAC_dom
IPR034972 SYNJ1
IPR034971 SYNJ1_RRM

The PANTHER Classification System

More...PANTHERi		PTHR11200:SF158 PTHR11200:SF158, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08952 DUF1866, 1 hit
PF03372 Exo_endo_phos, 1 hit
PF02383 Syja_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01165 DUF1866, 1 hit
SM00128 IPPc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928 SSF54928, 1 hit
SSF56219 SSF56219, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50102 RRM, 1 hit
PS50275 SAC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43426-1) [UniParc]FASTAAdd to basket
Also known as: Synaptojanin-170

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAFSKGFRIY HKLDPPPFSL IVETRHKEEC LMFESGAVAV LSSAEKEAIK 
        60         70         80         90        100
GTYSKVLDAY GLLGVLRLNL GDTMLHYLVL VTGCMSVGKI QESEVFRVTS 
       110        120        130        140        150
TEFISLRIDS SDEDRISEVR KVLNSGNFYF AWSASGISLD LSLNAHRSMQ 
       160        170        180        190        200
EQTTDNRFFW NQSLHLHLKH YGVNCDDWLL RLMCGGVEIR TIYAAHKQAK 
       210        220        230        240        250
ACLISRLSCE RAGTRFNVRG TNDDGHVANF VETEQVVYLD DSVSSFIQIR 
       260        270        280        290        300
GSVPLFWEQP GLQVGSHRVR MSRGFEANAP AFDRHFRTLK NLYGKQIIVN 
       310        320        330        340        350
LLGSKEGEHM LSKAFQSHLK ASEHAADIQM VNFDYHQMVK GGKAEKLHSV 
       360        370        380        390        400
LKPQVQKFLD YGFFYFNGSE VQRCQSGTVR TNCLDCLDRT NSVQAFLGLE 
       410        420        430        440        450
MLAKQLEALG LAEKPQLVTR FQEVFRSMWS VNGDSISKIY AGTGALEGKA 
       460        470        480        490        500
KLKDGARSVT RTIQNNFFDS SKQEAIDVLL LGNTLNSDLA DKARALLTTG 
       510        520        530        540        550
SLRVSEQTLQ SASSKVLKSM CENFYKYSKP KKIRVCVGTW NVNGGKQFRS 
       560        570        580        590        600
IAFKNQTLTD WLLDAPKLAG IQEFQDKRSK PTDIFAIGFE EMVELNAGNI 
       610        620        630        640        650
VSASTTNQKL WAVELQKTIS RDNKYVLLAS EQLVGVCLFV FIRPQHAPFI 
       660        670        680        690        700
RDVAVDTVKT GMGGATGNKG AVAIRMLFHT TSLCFVCSHF AAGQSQVKER 
       710        720        730        740        750
NEDFIEIARK LSFPMGRMLF SHDYVFWCGD FNYRIDLPNE EVKELIRQQN 
       760        770        780        790        800
WDSLIAGDQL INQKNAGQVF RGFLEGKVTF APTYKYDLFS DDYDTSEKCR 
       810        820        830        840        850
TPAWTDRVLW RRRKWPFDRS AEDLDLLNAS FQDESKILYT WTPGTLLHYG 
       860        870        880        890        900
RAELKTSDHR PVVALIDIDI FEVEAEERQN IYKEVIAVQG PPDGTVLVSI 
       910        920        930        940        950
KSSLPENNFF DDALIDELLQ QFASFGEVIL IRFVEDKMWV TFLEGSSALN 
       960        970        980        990       1000
VLSLNGKELL NRTITIALKS PDWIKNLEEE MSLEKISIAL PSSTSSTLLG 
      1010       1020       1030       1040       1050
EDAEVAADFD MEGDVDDYSA EVEELLPQHL QPSSSSGLGT SPSSSPRTSP 
      1060       1070       1080       1090       1100
CQSPTISEGP VPSLPIRPSR APSRTPGPPS AQSSPIDAQP ATPLPQKDPA 
      1110       1120       1130       1140       1150
QPLEPKRPPP PRPVAPPTRP APPQRPPPPS GARSPAPTRK EFGGIGAPPS 
      1160       1170       1180       1190       1200
PGVARREMEA PKSPGTTRKD NIGRSQPSPQ AGLAGPGPAG YSTARPTIPP 
      1210       1220       1230       1240       1250
RAGVISAPQS HARASAGRLT PESQSKTSET SKGSTFLPEP LKPQAAFPPQ 
      1260       1270       1280       1290       1300
SSLPPPAQRL QEPLVPVAAP MPQSGPQPNL ETPPQPPPRS RSSHSLPSEA 
      1310       1320       1330       1340       1350
SSQPQVKTNG ISDGKRESPL KIDPFEDLSF NLLAVSKAQL SVQTSPVPTP 
      1360       1370       1380       1390       1400
DPKRLIQLPS ATQSNVLSSV SCMPTMPPIP ARSQSQENMR SSPNPFITGL 
      1410       1420       1430       1440       1450
TRTNPFSDRT AAPGNPFRAK SEESEATSWF SKEEPVTISP FPSLQPLGHN 
      1460       1470       1480       1490       1500
KSRASSSLDG FKDSFDLQGQ STLKISNPKG WVTFEEEEDF GVKGKSKSAC 
      1510       1520       1530       1540       1550
SDLLGNQPSS FSGSNLTLND DWNKGTNVSF CVLPSRRPPP PPVPLLPPGT 
      1560       1570 
SPPVDPFTTL ASKASPTLDF TER
Length:1,573
Mass (Da):173,103
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD50B249B1EBFFC18
GO
Isoform 2 (identifier: O43426-2) [UniParc]FASTAAdd to basket
Also known as: Synaptojanin-145

The sequence of this isoform differs from the canonical sequence as follows:
     1306-1311: VKTNGI → QEQPSG
     1312-1573: Missing.

Show »
Length:1,311
Mass (Da):144,859
Checksum:i26F2B693F03D2617
GO
Isoform 3 (identifier: O43426-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1144-1159: Missing.
     1306-1311: VKTNGI → QEQPSG
     1312-1573: Missing.

Show »
Length:1,295
Mass (Da):143,254
Checksum:iF082833051AB7F69
GO
Isoform 4 (identifier: O43426-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     451-451: K → KAGK
     504-511: Missing.
     525-1573: Missing.

Show »
Length:519
Mass (Da):58,068
Checksum:i9B1ECB57B0D071C9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQV8J3KQV8_HUMAN
Synaptojanin-1
SYNJ1
1,612Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JFZ1C9JFZ1_HUMAN
Synaptojanin-1
SYNJ1
1,350Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SGJ6A0A0D9SGJ6_HUMAN
Synaptojanin-1
SYNJ1
1,526Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KPK1J3KPK1_HUMAN
Synaptojanin-1
SYNJ1
1,264Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZC2H7BZC2_HUMAN
Synaptojanin-1
SYNJ1
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JW66C9JW66_HUMAN
Synaptojanin-1
SYNJ1
695Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J1Z6C9J1Z6_HUMAN
Synaptojanin-1
SYNJ1
178Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZ56H7BZ56_HUMAN
Synaptojanin-1
SYNJ1
131Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA74933 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1093 – 1108Missing in BAA74933 (PubMed:9428629).CuratedAdd BLAST16
Sequence conflicti1366V → VNT in AAC51922 (PubMed:9428629).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070905219R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 Publications1
Natural variantiVAR_047308295K → R1 PublicationCorresponds to variant dbSNP:rs2254562Ensembl.1
Natural variantiVAR_078803420R → P in PARK20. 1 Publication1
Natural variantiVAR_078804849Y → C in EIEE53; decreased inositol phosphate phosphatase activity. 1 Publication1
Natural variantiVAR_078805981M → I Polymorphism; no effect on inositol phosphate phosphatase activity. 1 Publication1
Natural variantiVAR_0788061018Y → S Polymorphism; no effect on inositol phosphate phosphatase activity. 1 Publication1
Natural variantiVAR_0473091366V → A. Corresponds to variant dbSNP:rs9980589Ensembl.1
Natural variantiVAR_0709061383S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 Publication1
Natural variantiVAR_0496031547P → L. Corresponds to variant dbSNP:rs2230767Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_035709451K → KAGK in isoform 4. 1 Publication1
Alternative sequenceiVSP_035710504 – 511Missing in isoform 4. 1 Publication8
Alternative sequenceiVSP_035711525 – 1573Missing in isoform 4. 1 PublicationAdd BLAST1049
Alternative sequenceiVSP_0415781144 – 1159Missing in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_0026821306 – 1311VKTNGI → QEQPSG in isoform 2 and isoform 3. 2 Publications6
Alternative sequenceiVSP_0026831312 – 1573Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST262

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF009039 mRNA Translation: AAC51921.1
AF009040 mRNA Translation: AAC51922.1
AB020717 mRNA Translation: BAA74933.2 Different initiation.
AP000275 Genomic DNA No translation available.
AP000276 Genomic DNA No translation available.
AP000277 Genomic DNA No translation available.
AP000278 Genomic DNA No translation available.
AP000279 Genomic DNA No translation available.
BC098395 mRNA Translation: AAH98395.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS54483.1 [O43426-4]

NCBI Reference Sequences

More...RefSeqi		NP_001153774.1, NM_001160302.1 [O43426-4]
NP_001153778.1, NM_001160306.1
NP_003886.3, NM_003895.3
NP_982271.2, NM_203446.2
XP_016883989.1, XM_017028500.1 [O43426-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357345; ENSP00000349903; ENSG00000159082 [O43426-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8867

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8867

UCSC genome browser

More...UCSCi		uc002yqf.2 human [O43426-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF009039 mRNA Translation: AAC51921.1
AF009040 mRNA Translation: AAC51922.1
AB020717 mRNA Translation: BAA74933.2 Different initiation.
AP000275 Genomic DNA No translation available.
AP000276 Genomic DNA No translation available.
AP000277 Genomic DNA No translation available.
AP000278 Genomic DNA No translation available.
AP000279 Genomic DNA No translation available.
BC098395 mRNA Translation: AAH98395.1
CCDSiCCDS54483.1 [O43426-4]
RefSeqiNP_001153774.1, NM_001160302.1 [O43426-4]
NP_001153778.1, NM_001160306.1
NP_003886.3, NM_003895.3
NP_982271.2, NM_203446.2
XP_016883989.1, XM_017028500.1 [O43426-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1W80X-ray1.90P1477-1488[»]
Q1458-1469[»]
2DNRNMR-A894-971[»]
2VJ0X-ray1.60P1477-1488[»]
SMRiO43426
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114388, 22 interactors
ELMiO43426
IntActiO43426, 14 interactors
MINTiO43426
STRINGi9606.ENSP00000409667

PTM databases

DEPODiO43426
iPTMnetiO43426
PhosphoSitePlusiO43426

Polymorphism and mutation databases

BioMutaiSYNJ1

Proteomic databases

EPDiO43426
jPOSTiO43426
MassIVEiO43426
MaxQBiO43426
PaxDbiO43426
PeptideAtlasiO43426
PRIDEiO43426
ProteomicsDBi48937 [O43426-1]
48938 [O43426-2]
48939 [O43426-4]
48940 [O43426-5]

Genome annotation databases

EnsembliENST00000357345; ENSP00000349903; ENSG00000159082 [O43426-4]
GeneIDi8867
KEGGihsa:8867
UCSCiuc002yqf.2 human [O43426-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8867
DisGeNETi8867

GeneCards: human genes, protein and diseases

More...GeneCardsi		SYNJ1
HGNCiHGNC:11503 SYNJ1
HPAiHPA011916
MalaCardsiSYNJ1
MIMi604297 gene
615530 phenotype
617389 phenotype
neXtProtiNX_O43426
OpenTargetsiENSG00000159082
Orphaneti391411 Atypical juvenile parkinsonism
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA36285

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0566 Eukaryota
COG5329 LUCA
COG5411 LUCA
GeneTreeiENSGT00940000157964
HOGENOMiHOG000007937
InParanoidiO43426
KOiK20279
OrthoDBi359616at2759
PhylomeDBiO43426

Enzyme and pathway databases

BioCyciMetaCyc:HS08354-MONOMER
ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiO43426

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SYNJ1 human
EvolutionaryTraceiO43426

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8867
PharosiO43426

Protein Ontology

More...PROi		PR:O43426

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159082 Expressed in 219 organ(s), highest expression level in Brodmann (1909) area 23
ExpressionAtlasiO43426 baseline and differential
GenevisibleiO43426 HS

Family and domain databases

CDDicd12719 RRM_SYNJ1, 1 hit
Gene3Di3.30.70.330, 1 hit
3.60.10.10, 1 hit
InterProiView protein in InterPro
IPR015047 DUF1866
IPR036691 Endo/exonu/phosph_ase_sf
IPR005135 Endo/exonuclease/phosphatase
IPR000300 IPPc
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR002013 SAC_dom
IPR034972 SYNJ1
IPR034971 SYNJ1_RRM
PANTHERiPTHR11200:SF158 PTHR11200:SF158, 1 hit
PfamiView protein in Pfam
PF08952 DUF1866, 1 hit
PF03372 Exo_endo_phos, 1 hit
PF02383 Syja_N, 1 hit
SMARTiView protein in SMART
SM01165 DUF1866, 1 hit
SM00128 IPPc, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
SSF56219 SSF56219, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit
PS50275 SAC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYNJ1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43426
Secondary accession number(s): O43425, O94984, Q4KMR1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 25, 2008
Last modified: October 16, 2019
This is version 190 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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