O60331

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession PI51C_HUMAN; O60331;
Entrez ID 23396
GenBank Protein ID NM_001195733.1; NM_001300849.1; NM_012398.2;
GenBank Nucleotide ID NP_001182662.1; NP_001287778.1; NP_036530.1;
Protein Name Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1-gamma) (PtdIns(4)P-5-kinase 1 gamma) (EC 2.7.1.68) (Phosphatidylinositol 4-phosphate 5-kinase type I gamma) (PIP5KIgamma)
Gene Name PIP5K1C; KIAA0589
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionCatalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as vesicle mediated transport, cell adhesion(view all)
Sequence
(Fasta)
MELEVPDEAE SAEAGAVPSE AAWAAESGAA AGLAQKKAAP TEVLSMTAQP GPGHGKKLGH 60
RGVDASGETT YKKTTSSTLK GAIQLGIGYT VGHLSSKPER DVLMQDFYVV ESIFFPSEGS 120
NLTPAHHFQD FRFKTYAPVA FRYFRELFGI RPDDYLYSLC NEPLIELSNP GASGSLFYVT 180
SDDEFIIKTV MHKEAEFLQK LLPGYYMNLN QNPRTLLPKF YGLYCVQSGG KNIRVVVMNN 240
ILPRVVKMHL KFDLKGSTYK RRASKKEKEK SFPTYKDLDF MQDMPEGLLL DADTFSALVK 300
TLQRDCLVLE SFKIMDYSLL LGVHNIDQHE RERQAQGAQS TSDEKRPVGQ KALYSTAMES 360
IQGGAARGEA IESDDTMGGI PAVNGRGERL LLHIGIIDIL QSYRFIKKLE HTWKALVHDG 420
DTVSVHRPSF YAERFFKFMS NTVFRKNSSL KSSPSKKGRG GALLAVKPLG PTAAFSASQI 480
PSEREEAQYD LRGARSYPTL EDEGRPDLLP CTPPSFEEAT TASIATTLSS TSLSIPERSP 540
SETSEQPRYR RRTQSSGQDG RPQEEPPAEE DLQQITVQVE PACSVEIVVP KEEDAGVEAS 600
PAGASAAVEV ETASQASDEE GAPASQASDE EDAPATDIYF PTDERSWVYS PLHYSAQAPP 660
ASDGESDT 669

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1UbiquitinationBreast cancer/tumor/carcinomaMCF7PK9723572508
[Reference]: PIPKIlamd90 ubiquitylation by HECTD1 is required for breast cancer cell metastasis
2Tyrosine PhosphorylationPancreatic cancer/carcinoma/adenocarcinomaUY63928388589
[Reference]: EGFR-induced phosphorylation of type I? phosphatidylinositol phosphate kinase promotes pancreatic cancer progression.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 1)
MESH:C566961 ; Lethal Congenital Contractural Syndrome 3
DisGeNet (Curated)
(count: 10)
(view all)
C0003886; Arthrogryposis
C0035229; Respiratory Insufficiency
C0234958; muscle degeneration
C0270948; Neurogenic Muscular Atrophy
C0410916; Neonatal Death
C0541794; Skeletal muscle atrophy
HGMD
(count: 1)
CM073263; Contracture syndrome type 3; Missense/nonsense

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 18)
(view all)
136       QDFRFKTYAPVAFRY     dbPAF
228       YGLYCVQSGGKNIRV     dbPAF
402       GIIDILQSYRFIKKL     dbPAF
403       IIDILQSYRFIKKLE     dbPAF
45        AAPTEVLSMTAQPGP     dbPAF
47        PTEVLSMTAQPGPGH     dbPAF
Ubiquitination
(count: 5)
345       AQSTSDEKRPVGQKA     PLMD
351       EKRPVGQKALYSTAM     PLMD
414       KKLEHTWKALVHDGD     PLMD
467       GGALLAVKPLGPTAA     PLMD
97        TVGHLSSKPERDVLM     PLMD
Glycation
(count: 1)
37        AAGLAQKKAAPTEVL     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource