Pitpna
entrez
18738
canonical
uniprot
P53810
canonical
ensembl
ENSMUSG00000017781
resolver
ensp
ENSMUSP00000115723
resolver
enst
ENSMUST00000143219
resolver
genesymbol
Pitpna
resolver
genesymbol_syn
Pitpn
resolver
uniprot
Q3TGI6
resolver
uniprot
Q5ND42
resolver
uniprot_entry
PIPNA_MOUSE
resolver
uniprot_entry
Q3TGI6_MOUSE
resolver
uniprot_entry
Q5ND42_MOUSE
resolver
amino_acid_sequence
MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLVNEPYEKDDGEKGQYTHKIYHLQSKVPTFVRMLAPEGALNIHEKAWNAYPYCRTVITNEYMKEDFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAIYIDIADRSQVLSKDYKAEEDPAKFKSVKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVENFIHKQEKRLFTNFHRQLFCWLDKWVDLTMDDIRRMEEETKRQLDEMRQKDPVKGMTADD
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Pitpna are the cause of the vibrator phenotype which is characterized by early-onset progressive action tremor, degeneration of brain stem and spinal cord neurons, and juvenile death. The mutation is due to the insertion of an intracisternal A particle retrotransposon in intron 4 which results in a 5-fold reduction in protein levels. {ECO:0000269|PubMed:9182797}.
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes (PubMed:8049244). Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions (By similarity). Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3 (By similarity). {ECO:0000250|UniProtKB:Q00169, ECO:0000269|PubMed:8049244}.
uniprot
proteins
mass_dalton
31893
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKC in a calcium and phosphatidylserine-dependent manner. {ECO:0000269|PubMed:8049244}.
uniprot
proteins
protein_family
PI transfer class I subfamily
uniprot
proteins
protein_family
PtdIns transfer protein family
uniprot
proteins
pubmed
11980708
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
7654206
uniprot
proteins
pubmed
8049244
uniprot
proteins
pubmed
9182797
uniprot
proteins
sequence_length
271
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:7654206}. Nucleus {ECO:0000269|PubMed:7654206}. Note=Primarily localized in the cytosol in its closed state, is enriched on membranes in its open state where it facilitates lipid transfer. {ECO:0000250|UniProtKB:P16446}.
uniprot
proteins