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O43426

- SYNJ1_HUMAN

UniProt

O43426 - SYNJ1_HUMAN

Protein

Synaptojanin-1

Gene

SYNJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis.

    Catalytic activityi

    1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.

    GO - Molecular functioni

    1. inositol-polyphosphate 5-phosphatase activity Source: ProtInc
    2. nucleotide binding Source: InterPro
    3. phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity Source: UniProtKB-EC
    4. RNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. inositol phosphate metabolic process Source: Reactome
    3. phosphate-containing compound metabolic process Source: ProtInc
    4. phosphatidylinositol biosynthetic process Source: Reactome
    5. phosphatidylinositol dephosphorylation Source: InterPro
    6. phospholipid metabolic process Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. synaptic vesicle endocytosis Source: ProtInc

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Endocytosis

    Keywords - Ligandi

    RNA-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08354-MONOMER.
    ReactomeiREACT_121025. Synthesis of PIPs at the plasma membrane.
    REACT_150312. Synthesis of IP3 and IP4 in the cytosol.
    REACT_150352. Synthesis of IP2, IP, and Ins in the cytosol.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synaptojanin-1 (EC:3.1.3.36)
    Alternative name(s):
    Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
    Gene namesi
    Name:SYNJ1
    Synonyms:KIAA0910
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:11503. SYNJ1.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Parkinson disease 20, early-onset (PARK20) [MIM:615530]: An early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti219 – 2191R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 Publications
    VAR_070905
    Natural varianti1383 – 13831S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 Publication
    VAR_070906

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

    Organism-specific databases

    MIMi615530. phenotype.
    Orphaneti391411. Atypical juvenile parkinsonism.
    PharmGKBiPA36285.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15731573Synaptojanin-1PRO_0000209730Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei830 – 8301Phosphoserine2 Publications
    Modified residuei1220 – 12201Phosphothreonine1 Publication
    Modified residuei1318 – 13181Phosphoserine1 Publication
    Modified residuei1551 – 15511Phosphoserine1 Publication
    Modified residuei1565 – 15651Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO43426.
    PaxDbiO43426.
    PRIDEiO43426.

    PTM databases

    PhosphoSiteiO43426.

    Expressioni

    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

    ArrayExpressiO43426.
    BgeeiO43426.
    CleanExiHS_SYNJ1.
    GenevestigatoriO43426.

    Organism-specific databases

    HPAiHPA011916.

    Interactioni

    Subunit structurei

    Interacts with ASH/GRB2. Interacts with PACSIN1, PACSIN2 and PACSIN3 By similarity. Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. Interacts with MYO1E (via SH3 domain).By similarity2 Publications

    Protein-protein interaction databases

    BioGridi114388. 14 interactions.
    IntActiO43426. 6 interactions.
    MINTiMINT-109209.
    STRINGi9606.ENSP00000322234.

    Structurei

    Secondary structure

    1
    1573
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi895 – 9017
    Turni905 – 9073
    Helixi912 – 92312
    Beta strandi928 – 9336
    Beta strandi935 – 94410
    Helixi945 – 9506
    Helixi951 – 9544
    Beta strandi962 – 9687

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1W80X-ray1.90P1477-1488[»]
    Q1458-1469[»]
    2DNRNMR-A894-971[»]
    2VJ0X-ray1.60P1477-1488[»]
    ProteinModelPortaliO43426.
    SMRiO43426. Positions 44-444, 527-870, 895-971.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO43426.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini119 – 442324SACPROSITE-ProRule annotationAdd
    BLAST
    Domaini902 – 97170RRMPROSITE-ProRule annotationAdd
    BLAST
    Repeati1396 – 139831
    Repeati1406 – 140832
    Repeati1417 – 141933

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni500 – 899400CatalyticSequence AnalysisAdd
    BLAST
    Regioni1396 – 1419243 X 3 AA repeats of N-P-FAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi900 – 1573674Pro-richAdd
    BLAST
    Compositional biasi1033 – 10364Poly-Ser
    Compositional biasi1108 – 11136Poly-Pro
    Compositional biasi1126 – 11294Poly-Pro
    Compositional biasi1485 – 14884Poly-Glu
    Compositional biasi1538 – 15447Poly-Pro

    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.

    Sequence similaritiesi

    Belongs to the synaptojanin family.Curated
    In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.Curated
    Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation
    Contains 1 SAC domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5411.
    HOGENOMiHOG000007937.
    HOVERGENiHBG079225.
    InParanoidiO43426.
    KOiK01099.
    PhylomeDBiO43426.

    Family and domain databases

    Gene3Di3.30.70.330. 1 hit.
    3.60.10.10. 1 hit.
    InterProiIPR015047. DUF1866.
    IPR005135. Endo/exonuclease/phosphatase.
    IPR000300. IPPc.
    IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    IPR002013. Syja_N.
    [Graphical view]
    PfamiPF08952. DUF1866. 1 hit.
    PF03372. Exo_endo_phos. 1 hit.
    PF02383. Syja_N. 1 hit.
    [Graphical view]
    SMARTiSM00128. IPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56219. SSF56219. 2 hits.
    PROSITEiPS50102. RRM. 1 hit.
    PS50275. SAC. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43426-1) [UniParc]FASTAAdd to Basket

    Also known as: Synaptojanin-170

    This isoform has been chosen as the 'canonical' 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

    MAFSKGFRIY HKLDPPPFSL IVETRHKEEC LMFESGAVAV LSSAEKEAIK     50
    GTYSKVLDAY GLLGVLRLNL GDTMLHYLVL VTGCMSVGKI QESEVFRVTS 100
    TEFISLRIDS SDEDRISEVR KVLNSGNFYF AWSASGISLD LSLNAHRSMQ 150
    EQTTDNRFFW NQSLHLHLKH YGVNCDDWLL RLMCGGVEIR TIYAAHKQAK 200
    ACLISRLSCE RAGTRFNVRG TNDDGHVANF VETEQVVYLD DSVSSFIQIR 250
    GSVPLFWEQP GLQVGSHRVR MSRGFEANAP AFDRHFRTLK NLYGKQIIVN 300
    LLGSKEGEHM LSKAFQSHLK ASEHAADIQM VNFDYHQMVK GGKAEKLHSV 350
    LKPQVQKFLD YGFFYFNGSE VQRCQSGTVR TNCLDCLDRT NSVQAFLGLE 400
    MLAKQLEALG LAEKPQLVTR FQEVFRSMWS VNGDSISKIY AGTGALEGKA 450
    KLKDGARSVT RTIQNNFFDS SKQEAIDVLL LGNTLNSDLA DKARALLTTG 500
    SLRVSEQTLQ SASSKVLKSM CENFYKYSKP KKIRVCVGTW NVNGGKQFRS 550
    IAFKNQTLTD WLLDAPKLAG IQEFQDKRSK PTDIFAIGFE EMVELNAGNI 600
    VSASTTNQKL WAVELQKTIS RDNKYVLLAS EQLVGVCLFV FIRPQHAPFI 650
    RDVAVDTVKT GMGGATGNKG AVAIRMLFHT TSLCFVCSHF AAGQSQVKER 700
    NEDFIEIARK LSFPMGRMLF SHDYVFWCGD FNYRIDLPNE EVKELIRQQN 750
    WDSLIAGDQL INQKNAGQVF RGFLEGKVTF APTYKYDLFS DDYDTSEKCR 800
    TPAWTDRVLW RRRKWPFDRS AEDLDLLNAS FQDESKILYT WTPGTLLHYG 850
    RAELKTSDHR PVVALIDIDI FEVEAEERQN IYKEVIAVQG PPDGTVLVSI 900
    KSSLPENNFF DDALIDELLQ QFASFGEVIL IRFVEDKMWV TFLEGSSALN 950
    VLSLNGKELL NRTITIALKS PDWIKNLEEE MSLEKISIAL PSSTSSTLLG 1000
    EDAEVAADFD MEGDVDDYSA EVEELLPQHL QPSSSSGLGT SPSSSPRTSP 1050
    CQSPTISEGP VPSLPIRPSR APSRTPGPPS AQSSPIDAQP ATPLPQKDPA 1100
    QPLEPKRPPP PRPVAPPTRP APPQRPPPPS GARSPAPTRK EFGGIGAPPS 1150
    PGVARREMEA PKSPGTTRKD NIGRSQPSPQ AGLAGPGPAG YSTARPTIPP 1200
    RAGVISAPQS HARASAGRLT PESQSKTSET SKGSTFLPEP LKPQAAFPPQ 1250
    SSLPPPAQRL QEPLVPVAAP MPQSGPQPNL ETPPQPPPRS RSSHSLPSEA 1300
    SSQPQVKTNG ISDGKRESPL KIDPFEDLSF NLLAVSKAQL SVQTSPVPTP 1350
    DPKRLIQLPS ATQSNVLSSV SCMPTMPPIP ARSQSQENMR SSPNPFITGL 1400
    TRTNPFSDRT AAPGNPFRAK SEESEATSWF SKEEPVTISP FPSLQPLGHN 1450
    KSRASSSLDG FKDSFDLQGQ STLKISNPKG WVTFEEEEDF GVKGKSKSAC 1500
    SDLLGNQPSS FSGSNLTLND DWNKGTNVSF CVLPSRRPPP PPVPLLPPGT 1550
    SPPVDPFTTL ASKASPTLDF TER 1573
    Length:1,573
    Mass (Da):173,103
    Last modified:November 25, 2008 - v2
    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

    Sequence cautioni

    The sequence BAA74933.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1093 – 110816Missing in BAA74933. (PubMed:9428629)CuratedAdd
    BLAST
    Sequence conflicti1366 – 13661V → VNT in AAC51922. (PubMed:9428629)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti219 – 2191R → Q in PARK20; impairs the phosphatase activity of the enzyme toward phosphatidylinositol-3-phosphate and phosphatidylinositol-4-phosphate. 2 Publications
    VAR_070905
    Natural varianti295 – 2951K → R.1 Publication
    Corresponds to variant rs2254562 [ dbSNP | Ensembl ].
    VAR_047308
    Natural varianti1366 – 13661V → A.
    Corresponds to variant rs9980589 [ dbSNP | Ensembl ].
    VAR_047309
    Natural varianti1383 – 13831S → R in PARK20; unknown pathological significance; the patient also carries a heterozygous PINK1 truncating mutation. 1 Publication
    VAR_070906
    Natural varianti1508 – 15081P → L.
    Corresponds to variant rs2230767 [ dbSNP | Ensembl ].
    VAR_059357
    Natural varianti1545 – 15451L → P.
    Corresponds to variant rs2230767 [ dbSNP | Ensembl ].
    VAR_047310
    Natural varianti1547 – 15471P → L.
    Corresponds to variant rs2230767 [ dbSNP | Ensembl ].
    VAR_049603

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei451 – 4511K → KAGK in isoform 4. 1 PublicationVSP_035709
    Alternative sequencei504 – 5118Missing in isoform 4. 1 PublicationVSP_035710
    Alternative sequencei525 – 15731049Missing in isoform 4. 1 PublicationVSP_035711Add
    BLAST
    Alternative sequencei1144 – 115916Missing in isoform 3. 1 PublicationVSP_041578Add
    BLAST
    Alternative sequencei1306 – 13116VKTNGI → QEQPSG in isoform 2 and isoform 3. 2 PublicationsVSP_002682
    Alternative sequencei1312 – 1573262Missing in isoform 2 and isoform 3. 2 PublicationsVSP_002683Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.473632.

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS54483.1. [O43426-4 ]
    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.
    UniGenei Hs.473632.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1W80 X-ray 1.90 P 1477-1488 [» ]
    Q 1458-1469 [» ]
    2DNR NMR - A 894-971 [» ]
    2VJ0 X-ray 1.60 P 1477-1488 [» ]
    ProteinModelPortali O43426.
    SMRi O43426. Positions 44-444, 527-870, 895-971.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114388. 14 interactions.
    IntActi O43426. 6 interactions.
    MINTi MINT-109209.
    STRINGi 9606.ENSP00000322234.

    PTM databases

    PhosphoSitei O43426.

    Proteomic databases

    MaxQBi O43426.
    PaxDbi O43426.
    PRIDEi O43426.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357345 ; ENSP00000349903 ; ENSG00000159082 . [O43426-4 ]
    GeneIDi 8867.
    KEGGi hsa:8867.
    UCSCi uc002yqf.2. human. [O43426-4 ]

    Organism-specific databases

    CTDi 8867.
    GeneCardsi GC21M033997.
    HGNCi HGNC:11503. SYNJ1.
    HPAi HPA011916.
    MIMi 604297. gene.
    615530. phenotype.
    neXtProti NX_O43426.
    Orphaneti 391411. Atypical juvenile parkinsonism.
    PharmGKBi PA36285.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5411.
    HOGENOMi HOG000007937.
    HOVERGENi HBG079225.
    InParanoidi O43426.
    KOi K01099.
    PhylomeDBi O43426.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS08354-MONOMER.
    Reactomei REACT_121025. Synthesis of PIPs at the plasma membrane.
    REACT_150312. Synthesis of IP3 and IP4 in the cytosol.
    REACT_150352. Synthesis of IP2, IP, and Ins in the cytosol.

    Miscellaneous databases

    EvolutionaryTracei O43426.
    GenomeRNAii 8867.
    NextBioi 33289.
    PROi O43426.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43426.
    Bgeei O43426.
    CleanExi HS_SYNJ1.
    Genevestigatori O43426.

    Family and domain databases

    Gene3Di 3.30.70.330. 1 hit.
    3.60.10.10. 1 hit.
    InterProi IPR015047. DUF1866.
    IPR005135. Endo/exonuclease/phosphatase.
    IPR000300. IPPc.
    IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    IPR002013. Syja_N.
    [Graphical view ]
    Pfami PF08952. DUF1866. 1 hit.
    PF03372. Exo_endo_phos. 1 hit.
    PF02383. Syja_N. 1 hit.
    [Graphical view ]
    SMARTi SM00128. IPPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56219. SSF56219. 2 hits.
    PROSITEi PS50102. RRM. 1 hit.
    PS50275. SAC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15."
      Haffner C., Takei K., Chen H., Ringstad N., Hudson A., Butler M.H., Salcini A.E., Di Fiore P.P., De Camilli P.
      FEBS Lett. 419:175-180(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-295.
      Tissue: Cerebellum.
    2. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Placenta.
    6. "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity."
      Cestra G., Castagnoli L., Dente L., Minenkova O., Petrelli A., Migone N., Hoffmueller U., Schneider-Mergener J., Cesareni G.
      J. Biol. Chem. 274:32001-32007(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH AMPH; SH3GL1; SH3GL2 AND SH3GL3.
    7. "Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis."
      Krendel M., Osterweil E.K., Mooseker M.S.
      FEBS Lett. 581:644-650(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYO1E.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-830; THR-1220; SER-1551 AND SER-1565, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-830, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1318, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Solution structure of RNA binding domain in synaptojanin 1."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 894-971.
    12. "The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures."
      Krebs C.E., Karkheiran S., Powell J.C., Cao M., Makarov V., Darvish H., Di Paolo G., Walker R.H., Shahidi G.A., Buxbaum J.D., De Camilli P., Yue Z., Paisan-Ruiz C.
      Hum. Mutat. 34:1200-1207(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PARK20 GLN-219, CHARACTERIZATION OF VARIANT PARK20 GLN-219.
    13. Cited for: VARIANTS PARK20 GLN-219 AND ARG-1383.

    Entry informationi

    Entry nameiSYNJ1_HUMAN
    AccessioniPrimary (citable) accession number: O43426
    Secondary accession number(s): O43425, O94984, Q4KMR1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 147 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3