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Synaptojanin-1

Summary

UniProt ID

O43426

Gene Symbol

SYNJ1
KIAA0910

Organism

Homo sapiens (human)

External Links

GlyGen: O43426
PubChem: O43426
The Human Metabolome Database: HMDBP01573
The O-GlcNAc Database: O43426
O-GlcNAcAtlas: O43426

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
Disease variant
Endocytosis
Epilepsy
Hydrolase
Lipid metabolism
Methylation
Neurodegeneration
Parkinson disease
Parkinsonism
Phosphoprotein
RNA-binding
Reference proteome
Repeat

Gene Ontology (GO)

Displaying entries **1 - 10** of 12 in total

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GO Term
synaptic vesicle uncoating
synaptic vesicle transport
phosphatidylinositol dephosphorylation
phosphatidylinositol biosynthetic process
phosphatidylinositol metabolic process
learning
synaptic vesicle priming
synaptic vesicle endocytosis
inositol phosphate metabolic process
positive regulation of endosome organization

Displaying **all 8** entries
GO Term
vesicle membrane
terminal bouton
presynapse
perinuclear region of cytoplasm
synaptic membrane
membrane coat
clathrin coat of coated pit
cytosol

Displaying **all 10** entries
GO Term
RNA binding
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
inositol-1,4,5-trisphosphate 5-phosphatase activity
SH3 domain binding
phosphatidylinositol phosphate 4-phosphatase activity
phosphatidylinositol-4-phosphate phosphatase activity
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
phosphatidylinositol-3-phosphate phosphatase activity
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
phosphatidylinositol phosphate 5-phosphatase activity

Annotation information from UniProt.

Sequence

MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 7** entries
Position	GlyTouCan ID	Source
43	G49108TO	GlyGen The O-GlcNAc Database
987	G49108TO	GlyGen The O-GlcNAc Database
992	G49108TO	GlyGen The O-GlcNAc Database
1329	G49108TO	GlyGen The O-GlcNAc Database
1336	G49108TO	GlyGen The O-GlcNAc Database
1383	G49108TO	GlyGen The O-GlcNAc Database
1385	G49108TO	GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 4** entries
Pathway Name	Organism
Clathrin-mediated endocytosis	Homo sapiens
Synthesis of IP2, IP, and Ins in the cytosol	Homo sapiens
Synthesis of IP3 and IP4 in the cytosol	Homo sapiens
Synthesis of PIPs at the plasma membrane	Homo sapiens

Human Protein Atlas

ENSG00000159082

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Displaying entries **41 - 50** of **128** in total

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DO ID	Disease Name	Source
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E	DisGeNET
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F	DisGeNET
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G	DisGeNET
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H	DisGeNET
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J	DisGeNET
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L	DisGeNET
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q	DisGeNET
DOID:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	DisGeNET
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	DisGeNET

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

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External Links

Annotation

International Collaboration

Acknowledgements