| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors. SUBUNIT: Interacts with GRB10 (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6Y7W6-1; Sequence=Displayed; Name=2; IsoId=Q6Y7W6-3; Sequence=VSP_022244, VSP_043471; DISEASE: Defects in GIGYF2 are may be the cause of Parkinson disease type 11 (PARK11) [MIM:607688]. 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. SIMILARITY: Belongs to the PERQ family. SIMILARITY: Contains 1 GYF domain. SEQUENCE CAUTION: Sequence=BAA31617.2; Type=Erroneous initiation; Sequence=BAA91873.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform; GENE SYNONYMS:GIGYF2 KIAA0642 PERQ2 TNRC15. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1299 AA; 150070 MW; 2282458102F64B71 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:11960,
urn:biopax:RelationshipXref:NCBI GENE_26058,
urn:biopax:RelationshipXref:REFSEQ_NP_001096616,
urn:biopax:RelationshipXref:REFSEQ_NP_001096617,
urn:biopax:RelationshipXref:REFSEQ_NP_001096618,
urn:biopax:RelationshipXref:REFSEQ_NP_056390,
urn:biopax:UnificationXref:UNIPROT_A6H8W4,
urn:biopax:UnificationXref:UNIPROT_O75137,
urn:biopax:UnificationXref:UNIPROT_Q6Y7W6,
urn:biopax:UnificationXref:UNIPROT_Q7Z2Z8,
urn:biopax:UnificationXref:UNIPROT_Q7Z3I2,
urn:biopax:UnificationXref:UNIPROT_Q96HU4,
urn:biopax:UnificationXref:UNIPROT_Q9NV82
|
| biopax3:displayName |
PERQ2_HUMAN
|
| biopax3:name |
GIGYF2,
GRB10-interacting GYF protein 2,
Trinucleotide repeat-containing gene 15 protein
|
| biopax3:entityFeature |
urn:biopax:ModificationFeature:PERQ2_HUMAN_1,
urn:biopax:ModificationFeature:PERQ2_HUMAN_10,
urn:biopax:ModificationFeature:PERQ2_HUMAN_11,
urn:biopax:ModificationFeature:PERQ2_HUMAN_12,
urn:biopax:ModificationFeature:PERQ2_HUMAN_13,
urn:biopax:ModificationFeature:PERQ2_HUMAN_14,
urn:biopax:ModificationFeature:PERQ2_HUMAN_15,
urn:biopax:ModificationFeature:PERQ2_HUMAN_2,
urn:biopax:ModificationFeature:PERQ2_HUMAN_3,
urn:biopax:ModificationFeature:PERQ2_HUMAN_4,
urn:biopax:ModificationFeature:PERQ2_HUMAN_5,
urn:biopax:ModificationFeature:PERQ2_HUMAN_6,
urn:biopax:ModificationFeature:PERQ2_HUMAN_7,
urn:biopax:ModificationFeature:PERQ2_HUMAN_8,
urn:biopax:ModificationFeature:PERQ2_HUMAN_9
|
| biopax3:organism | |
| biopax3:sequence |
MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPSDLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAAVLRLTGRGGGGTVVGAPRGRSSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRPNFEEGGPTSVGRKHEFIRSESENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPDGPRSAGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTFDSSGAFLSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTDRVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTEKAEEETRMENSLPAKVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVSTEPDDEEGLKHLEQQAEKMVAYLQDSALDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKDPQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPPHMGELDQERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLLQQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEGGSVWDLPLDTTTPGPALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRREEEELARRKQEEALRRQREQEIALRRQREEEERQQQEEALRRLEERRREEEERRKQEELLRKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQQQQEALRRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQLREEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQQEEARQMQKQQQQQQQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWDDAVKEVGPRNSTNKNKNNASLSKSVGVSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCEQMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKANQQRQQQQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQSGKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY
|
| biopax3:standardName |
PERQ amino acid-rich with GYF domain-containing protein 2
|