Hmdb loader

Showing Protein Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma (HMDBP03290)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 3 metabolites
Identification
HMDB Protein ID HMDBP03290
Secondary Accession Numbers
  • 8868
Name Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma
Synonyms
  1. PIP5K1-gamma
  2. PIP5KIgamma
  3. Phosphatidylinositol-4-phosphate 5-kinase type I gamma
  4. PtdIns(4)P-5-kinase 1 gamma
Gene Name PIP5K1C
Protein Type Enzyme
Biological Properties
General Function Involved in phosphatidylinositol phosphate kinase activity
Specific Function Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments. Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate
Pathways Not Available
Reactions Not Available
GO Classification
Function
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
phosphatidylinositol phosphate kinase activity
lipid kinase activity
Process
metabolic process
phosphatidylinositol metabolic process
organophosphate metabolic process
phospholipid metabolic process
glycerophospholipid metabolic process
phosphoinositide metabolic process
Cellular Location
  1. Cell membrane
  2. Peripheral membrane protein
  3. Cytoplasmic side
Gene Properties
Chromosome Location Chromosome:1
Locus 19p13.3
SNPs PIP5K1C
Gene Sequence 
>2007 bp
ATGGAGCTGGAGGTACCGGACGAGGCGGAGAGCGCTGAGGCGGGGGCCGTGCCCTCGGAG
GCGGCGTGGGCGGCAGAGAGCGGGGCGGCGGCAGGTTTGGCTCAGAAGAAGGCGGCCCCA
ACAGAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCAT
CGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGACCACCTCCTCCACCCTGAAG
GGTGCCATCCAGCTGGGCATCGGCTACACCGTGGGCCACCTGAGCTCCAAGCCCGAACGC
GACGTGCTCATGCAGGACTTCTACGTGGTGGAGAGCATCTTCTTCCCCAGCGAAGGCAGC
AACCTCACCCCCGCCCACCACTTCCAGGACTTCCGCTTCAAGACCTATGCACCTGTCGCC
TTCCGCTACTTCCGGGAGCTCTTTGGGATCCGGCCAGATGATTACTTGTACTCCCTGTGC
AATGAGCCGCTGATCGAGCTGTCCAACCCGGGCGCCAGTGGCTCCCTCTTCTACGTCACC
AGCGACGACGAGTTCATCATCAAGACCGTCATGCACAAGGAGGCCGAGTTCCTGCAGAAG
CTGCTCCCTGGCTACTACATGAACCTCAACCAGAACCCGCGGACGCTGCTGCCCAAGTTC
TATGGGCTGTACTGCGTGCAGTCGGGGGGCAAGAACATCCGCGTCGTGGTCATGAACAAC
ATCCTGCCCCGCGTGGTCAAGATGCACCTCAAGTTCGACCTCAAGGGCTCCACCTACAAG
CGGCGCGCCAGCAAGAAGGAGAAGGAGAAGAGCTTCCCCACCTACAAGGACCTGGACTTC
ATGCAGGACATGCCCGAGGGGCTCCTGCTGGACGCCGACACCTTCAGCGCCCTGGTCAAG
ACGCTGCAGCGGGACTGCCTGGTCCTGGAAAGTTTCAAGATCATGGACTACAGCCTGCTG
CTGGGCGTGCACAACATCGACCAGCACGAGCGCGAGCGGCAGGCGCAGGGCGCCCAGAGC
ACCTCAGATGAGAAGCGGCCTGTGGGCCAGAAGGCGCTCTACTCCACGGCCATGGAGTCC
ATCCAGGGTGGCGCCGCGCGCGGGGAGGCCATCGAATCGGATGACACGATGGGCGGGATC
CCCGCTGTGAACGGCCGCGGGGAGCGGCTGCTGCTGCACATTGGCATCATCGACATCCTG
CAGTCCTACAGGTTCATCAAGAAACTGGAGCACACCTGGAAGGCCCTCGTCCACGATGGG
GACACGGTGTCCGTCCACCGCCCCAGCTTCTATGCCGAGCGCTTTTTCAAGTTCATGAGC
AACACGGTCTTTCGGAAGAACTCCTCCCTGAAGTCCTCGCCCTCCAAGAAGGGGCGCGGC
GGAGCCTTGCTAGCTGTGAAACCGCTGGGGCCCACCGCTGCCTTCTCGGCCAGCCAGATC
CCTAGCGAGCGGGAGGAGGCCCAGTACGACCTGCGGGGGGCCCGCAGCTACCCCACGCTG
GAGGACGAAGGCCGGCCCGACCTCCTGCCCTGCACGCCACCTTCTTTCGAAGAAGCCACT
ACAGCCTCCATTGCCACGACTCTGTCATCCACATCCCTCTCCATTCCTGAGCGGTCCCCC
TCGGAGACGTCGGAGCAGCCGCGGTACAGGCGGCGCACACAGTCGTCTGGACAGGATGGC
AGGCCGCAGGAGGAGCCACCCGCGGAAGAGGATCTGCAGCAGATTACAGTGCAGGTGGAG
CCTGCGTGCAGCGTGGAGATTGTGGTCCCCAAAGAGGAGGACGCAGGGGTGGAGGCTTCC
CCGGCCGGTGCCTCTGCTGCTGTTGAAGTAGAAACTGCCAGCCAGGCCTCAGACGAGGAG
GGCGCACCTGCCAGCCAGGCCTCGGACGAGGAGGACGCGCCCGCCACCGACATCTACTTT
CCCACCGATGAGAGGAGCTGGGTGTACTCCCCGCTCCACTATAGCGCCCAGGCCCCCCCG
GCCTCCGACGGCGAGAGCGACACATAA
Protein Properties
Number of Residues 668
Molecular Weight 73259.3
Theoretical pI 4.94
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence 
>Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma
MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGH
RGVDASGETTYKKTTSSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGS
NLTPAHHFQDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCNEPLIELSNPGASGSLFYVT
SDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQSGGKNIRVVVMNN
ILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVK
TLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMES
IQGGAARGEAIESDDTMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDG
DTVSVHRPSFYAERFFKFMSNTVFRKNSSLKSSPSKKGRGGALLAVKPLGPTAAFSASQI
PSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIATTLSSTSLSIPERSP
SETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEAS
PAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPP
ASDGESDT
GenBank ID Protein 31317309
UniProtKB/Swiss-Prot ID O60331
UniProtKB/Swiss-Prot Entry Name PI51C_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_012398.2
GeneCard ID PIP5K1C
GenAtlas ID PIP5K1C
HGNC ID HGNC:8996
References
General References
  1. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed:15057824 ]
  2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Feb 28;5(1):31-9. [PubMed:9628581 ]
  3. Di Paolo G, Pellegrini L, Letinic K, Cestra G, Zoncu R, Voronov S, Chang S, Guo J, Wenk MR, De Camilli P: Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin. Nature. 2002 Nov 7;420(6911):85-9. [PubMed:12422219 ]
  4. Doughman RL, Firestone AJ, Wojtasiak ML, Bunce MW, Anderson RA: Membrane ruffling requires coordination between type Ialpha phosphatidylinositol phosphate kinase and Rac signaling. J Biol Chem. 2003 Jun 20;278(25):23036-45. Epub 2003 Apr 6. [PubMed:12682053 ]
  5. Krauss M, Kinuta M, Wenk MR, De Camilli P, Takei K, Haucke V: ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma. J Cell Biol. 2003 Jul 7;162(1):113-24. [PubMed:12847086 ]
  6. Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS: Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. Epub 2007 Jul 24. [PubMed:17701898 ]