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O43426

- SYNJ1_HUMAN

UniProt

O43426 - SYNJ1_HUMAN

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Protein

Synaptojanin-1

Gene

SYNJ1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. positive regulation of synaptic vesicle uncoating Source: ParkinsonsUK-UCL
  8. regulation of synaptic vesicle membrane organization Source: ParkinsonsUK-UCL
  9. small molecule metabolic process Source: Reactome
  10. synaptic vesicle endocytosis Source: ProtInc
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO43426.
CleanExiHS_SYNJ1.
ExpressionAtlasiO43426. baseline and differential.
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 – 9017Combined sources
Turni905 – 9073Combined sources
Helixi912 – 92312Combined sources
Beta strandi928 – 9336Combined sources
Beta strandi935 – 94410Combined sources
Helixi945 – 9506Combined sources
Helixi951 – 9544Combined sources
Beta strandi962 – 9687Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1W80X-ray1.90P1477-1488[»]
Q1458-1469[»]
2DNRNMR-A894-971[»]
2VJ0X-ray1.60P1477-1488[»]
ProteinModelPortaliO43426.
SMRiO43426. Positions 16-444, 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.
GeneTreeiENSGT00760000119075.
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

        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
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.Curated

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:
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.
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:
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 .
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:
PDBei
RCSB PDBi
PDBji
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 16-444, 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.
GeneTreei ENSGT00760000119075.
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

ChiTaRSi SYNJ1. human.
EvolutionaryTracei O43426.
GenomeRNAii 8867.
NextBioi 33289.
PROi O43426.
SOURCEi Search...

Gene expression databases

Bgeei O43426.
CleanExi HS_SYNJ1.
ExpressionAtlasi O43426. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 149 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