O43426 (SYNJ1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 122.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Synaptojanin-1 EC=3.1.3.36 Alternative name(s): Synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1573 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Inositol 5-phosphatase which has a role in clathrin-mediated endocytosis. |
| Catalytic activity | 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
| Subunit structure | Binds AMPH, SH3GL1, SH3GL2 and SH3GL3. |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | 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. |
| Domain | 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 similarities | Belongs to the synaptojanin family. In the central section; belongs to the inositol-1,4,5-trisphosphate 5-phosphatase family. Contains 1 RRM (RNA recognition motif) domain. Contains 1 SAC domain. |
| Sequence caution | The sequence BAA74933.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Endocytosis |
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Ligand | RNA-binding |
| Molecular function | Hydrolase |
| PTM | Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular function | RNA binding Inferred from electronic annotation. Source: UniProtKB-KW inositol-polyphosphate 5-phosphatase activityTraceable author statement. Source: ProtInc nucleotide bindingInferred from electronic annotation. Source: InterPro phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O43426-1) 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. | ||||||
| Isoform 2 (identifier: O43426-2) Also known as: Synaptojanin-145; The sequence of this isoform differs from the canonical sequence as follows: 1306-1311: VKTNGI → QEQPSG 1312-1573: Missing. | ||||||
| Isoform 3 (identifier: O43426-4) The sequence of this isoform differs from the canonical sequence as follows: 1144-1159: Missing. 1306-1311: VKTNGI → QEQPSG 1312-1573: Missing. | ||||||
| Isoform 4 (identifier: O43426-5) The sequence of this isoform differs from the canonical sequence as follows: 451-451: K → KAGK 504-511: Missing. 525-1573: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||
Molecule processing | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1573 | 1573 | Synaptojanin-1 | PRO_0000209730 | |||||||||||||||||||
Regions | |||||||||||||||||||||||
| Domain | 119 – 442 | 324 | SAC | ||||||||||||||||||||
| Domain | 902 – 971 | 70 | RRM | ||||||||||||||||||||
| Repeat | 1396 – 1398 | 3 | 1 | ||||||||||||||||||||
| Repeat | 1406 – 1408 | 3 | 2 | ||||||||||||||||||||
| Repeat | 1417 – 1419 | 3 | 3 | ||||||||||||||||||||
| Region | 500 – 899 | 400 | Catalytic Potential | ||||||||||||||||||||
| Region | 1396 – 1419 | 24 | 3 X 3 AA repeats of N-P-F | ||||||||||||||||||||
| Compositional bias | 900 – 1573 | 674 | Pro-rich | ||||||||||||||||||||
| Compositional bias | 1033 – 1036 | 4 | Poly-Ser | ||||||||||||||||||||
| Compositional bias | 1108 – 1113 | 6 | Poly-Pro | ||||||||||||||||||||
| Compositional bias | 1126 – 1129 | 4 | Poly-Pro | ||||||||||||||||||||
| Compositional bias | 1485 – 1488 | 4 | Poly-Glu | ||||||||||||||||||||
| Compositional bias | 1538 – 1544 | 7 | Poly-Pro | ||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||
| Modified residue | 784 | 1 | Phosphotyrosine By similarity | ||||||||||||||||||||
| Modified residue | 786 | 1 | Phosphotyrosine By similarity | ||||||||||||||||||||
| Modified residue | 830 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||||||||||||||||
| Modified residue | 1048 | 1 | Phosphothreonine By similarity | ||||||||||||||||||||
| Modified residue | 1053 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1084 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1150 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1220 | 1 | Phosphothreonine Ref.7 | ||||||||||||||||||||
| Modified residue | 1345 | 1 | Phosphoserine By similarity | ||||||||||||||||||||
| Modified residue | 1349 | 1 | Phosphothreonine By similarity | ||||||||||||||||||||
| Modified residue | 1392 | 1 | Phosphoserine Ref.8 | ||||||||||||||||||||
| Modified residue | 1551 | 1 | Phosphoserine Ref.7 | ||||||||||||||||||||
| Modified residue | 1565 | 1 | Phosphoserine Ref.7 | ||||||||||||||||||||
Natural variations | |||||||||||||||||||||||
| Alternative sequence | 451 | 1 | K → KAGK in isoform 4. | VSP_035709 | |||||||||||||||||||
| Alternative sequence | 504 – 511 | 8 | Missing in isoform 4. | VSP_035710 | |||||||||||||||||||
| Alternative sequence | 525 – 1573 | 1049 | Missing in isoform 4. | VSP_035711 | |||||||||||||||||||
| Alternative sequence | 1144 – 1159 | 16 | Missing in isoform 3. | VSP_041578 | |||||||||||||||||||
| Alternative sequence | 1306 – 1311 | 6 | VKTNGI → QEQPSG in isoform 2 and isoform 3. | VSP_002682 | |||||||||||||||||||
| Alternative sequence | 1312 – 1573 | 262 | Missing in isoform 2 and isoform 3. | VSP_002683 | |||||||||||||||||||
| Natural variant | 295 | 1 | K → R. Ref.1 Corresponds to variant rs2254562 [ dbSNP | Ensembl ]. | VAR_047308 | |||||||||||||||||||
| Natural variant | 1366 | 1 | V → A. Corresponds to variant rs9980589 [ dbSNP | Ensembl ]. | VAR_047309 | |||||||||||||||||||
| Natural variant | 1508 | 1 | P → L. Corresponds to variant rs2230767 [ dbSNP | Ensembl ]. | VAR_059357 | |||||||||||||||||||
| Natural variant | 1545 | 1 | L → P. Corresponds to variant rs2230767 [ dbSNP | Ensembl ]. | VAR_047310 | |||||||||||||||||||
| Natural variant | 1547 | 1 | P → L. Corresponds to variant rs2230767 [ dbSNP | Ensembl ]. | VAR_049603 | |||||||||||||||||||
Experimental info | |||||||||||||||||||||||
| Sequence conflict | 1093 – 1108 | 16 | Missing in BAA74933. Ref.1 | ||||||||||||||||||||
| Sequence conflict | 1366 | 1 | V → VNT in AAC51922. Ref.1 | ||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||
| Beta strand | 895 – 901 | 7 | |||||||||||||||||||||
| Turn | 905 – 907 | 3 | |||||||||||||||||||||
| Helix | 912 – 923 | 12 | |||||||||||||||||||||
| Beta strand | 928 – 933 | 6 | |||||||||||||||||||||
| Beta strand | 935 – 944 | 10 | |||||||||||||||||||||
| Helix | 945 – 950 | 6 | |||||||||||||||||||||
| Helix | 951 – 954 | 4 | |||||||||||||||||||||
| Beta strand | 962 – 968 | 7 | |||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 9428629] [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: 10048485] [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: 12168954] [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. Yaspo M.-L.Nature 405:311-319(2000) [PubMed: 10830953] [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: 15489334] [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: 10542231] [Abstract] Cited for: INTERACTION WITH AMPH; SH3GL1; SH3GL2 AND SH3GL3. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-830; THR-1220; SER-1551 AND SER-1565, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1392, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-830, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [10] | "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. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||||||||||||||||||||
| IPI | IPI00012441. IPI00333134. IPI00386631. IPI00658095. | ||||||||||||||||||||||||||||||
| RefSeq | NP_001153774.1. NM_001160302.1. NP_001153778.1. NM_001160306.1. NP_003886.3. NM_003895.3. NP_982271.2. NM_203446.2. | ||||||||||||||||||||||||||||||
| UniGene | Hs.473632. | ||||||||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||||||||||||||
| ProteinModelPortal | O43426. | ||||||||||||||||||||||||||||||
| SMR | O43426. Positions 54-444, 527-876, 895-971. | ||||||||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||||||||
| IntAct | O43426. 3 interactions. | ||||||||||||||||||||||||||||||
| MINT | MINT-109209. | ||||||||||||||||||||||||||||||
| STRING | O43426. | ||||||||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||||||||
| PhosphoSite | O43426. | ||||||||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||||||||
| PRIDE | O43426. | ||||||||||||||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||||||||
| Ensembl | ENST00000322229; ENSP00000322234; ENSG00000159082. ENST00000382491; ENSP00000371931; ENSG00000159082. ENST00000433931; ENSP00000409667; ENSG00000159082. | ||||||||||||||||||||||||||||||
| GeneID | 8867. | ||||||||||||||||||||||||||||||
| KEGG | hsa:8867. | ||||||||||||||||||||||||||||||
| UCSC | uc002yqf.1. human. uc002yqg.1. human. | ||||||||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||||||||
| CTD | 8867. | ||||||||||||||||||||||||||||||
| GeneCards | GC21M033997. | ||||||||||||||||||||||||||||||
| HGNC | HGNC:11503. SYNJ1. | ||||||||||||||||||||||||||||||
| HPA | HPA011916. | ||||||||||||||||||||||||||||||
| MIM | 604297. gene. | ||||||||||||||||||||||||||||||
| neXtProt | NX_O43426. | ||||||||||||||||||||||||||||||
| HUGE | Search... | ||||||||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||||||||
| eggNOG | prNOG13374. | ||||||||||||||||||||||||||||||
| GeneTree | ENSGT00600000084387. | ||||||||||||||||||||||||||||||
| HOVERGEN | HBG079225. | ||||||||||||||||||||||||||||||
| InParanoid | O43426. | ||||||||||||||||||||||||||||||
| PhylomeDB | O43426. | ||||||||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||||||||
| BioCyc | MetaCyc:ENSG00000159082-MONOMER. | ||||||||||||||||||||||||||||||
| Pathway_Interaction_DB | ephbfwdpathway. EPHB forward signaling. | ||||||||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||||||||
| ArrayExpress | O43426. | ||||||||||||||||||||||||||||||
| Bgee | O43426. | ||||||||||||||||||||||||||||||
| CleanEx | HS_SYNJ1. | ||||||||||||||||||||||||||||||
| Genevestigator | O43426. | ||||||||||||||||||||||||||||||
| GermOnline | ENSG00000159082. Homo sapiens. | ||||||||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||||||||
| InterPro | IPR015047. DUF1866. IPR005135. Endo/exonuclease/phosphatase. IPR000300. IPPc. IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. IPR002013. Syja_N. [Graphical view] | ||||||||||||||||||||||||||||||
| Gene3D | G3DSA:3.30.70.330. a_b_plait_nuc_bd. 1 hit. | ||||||||||||||||||||||||||||||
| KO | K01099. | ||||||||||||||||||||||||||||||
| Pfam | PF08952. DUF1866. 1 hit. PF03372. Exo_endo_phos. 1 hit. PF02383. Syja_N. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| SMART | SM00128. IPPc. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| SUPFAM | SSF56219. Exo_endo_phos. 1 hit. | ||||||||||||||||||||||||||||||
| PROSITE | PS50102. RRM. 1 hit. PS50275. SAC. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||||||||
Other | |||||||||||||||||||||||||||||||
| NextBio | 33289. | ||||||||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||||||||
Entry information
| Entry name | SYNJ1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43426 Secondary accession number(s): O43425, O94984, Q4KMR1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with