UniProtKB - P48739 (PIPNB_HUMAN)
Protein
Phosphatidylinositol transfer protein beta isoform
Gene
PITPNB
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109).By similarity3 Publications
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out)2 PublicationsThis reaction proceeds in the forward1 Publication direction.
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out)3 PublicationsThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forwardBy similarity direction.
Activity regulationi
Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.1 Publication
GO - Molecular functioni
- phosphatidylcholine binding Source: BHF-UCL
- phosphatidylcholine transfer activity Source: UniProtKB
- phosphatidylcholine transporter activity Source: BHF-UCL
- phosphatidylinositol binding Source: BHF-UCL
- phosphatidylinositol transfer activity Source: UniProtKB
- sphingomyelin transfer activity Source: UniProtKB
GO - Biological processi
- lipid metabolic process Source: ProtInc
- nucleus organization Source: BHF-UCL
- phospholipid transport Source: BHF-UCL
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum Source: UniProtKB
Keywordsi
Biological process | Transport |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | P48739 |
Reactomei | R-HSA-1483196, PI and PC transport between ER and Golgi membranes |
Chemistry databases
SwissLipidsi | SLP:000000416 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol transfer protein beta isoformShort name: PI-TP-beta Short name: PtdIns transfer protein beta Short name: PtdInsTP beta |
Gene namesi | Name:PITPNB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9002, PITPNB |
MIMi | 606876, gene |
neXtProti | NX_P48739 |
VEuPathDBi | HostDB:ENSG00000180957.17 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity
Golgi apparatus
- Golgi apparatus By similarity
- Golgi apparatus membrane By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- Golgi membrane Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 60 | K → A: Loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. Fails to rescue the retrograde transport defect from the Golgi to endoplasmic reticulum in PITPNB-deficient cells. 1 Publication | 1 | |
Mutagenesisi | 89 | N → F: Loss of phosphatidylinositol transfer activity but no effect on phosphatidylcholine transfer activity. Fails to rescue the retrograde transport defect from the Golgi to endoplasmic reticulum in PITPNB-deficient cells. 1 Publication | 1 | |
Mutagenesisi | 94 | C → T or A: Loss of phosphatidylcholine transfer activity but no effect on phosphatidylinositol transfer activity. Not inhibited by N-ethylmaleimide. Fails to rescue the retrograde transport defect from the Golgi to endoplasmic reticulum in PITPNB-deficient cells. 2 Publications | 1 | |
Mutagenesisi | 187 | C → A: No effect on phosphatidylinositol transfer activity. 1 Publication | 1 | |
Mutagenesisi | 202 – 203 | WW → AA: Loss of phosphatidylinositol transfer activity. Fails to rescue the retrograde transport defect from the Golgi to endoplasmic reticulum in PITPNB-deficient cells. 2 Publications | 2 |
Organism-specific databases
DisGeNETi | 23760 |
OpenTargetsi | ENSG00000180957 |
PharmGKBi | PA33336 |
Miscellaneous databases
Pharosi | P48739, Tbio |
Genetic variation databases
BioMutai | PITPNB |
DMDMi | 1346772 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191643 | 1 – 271 | Phosphatidylinositol transfer protein beta isoformAdd BLAST | 271 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 215 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 262 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Constitutive phosphorylation of Ser-262 has no effect on phospholipid transfer activity but is required for Golgi targeting.By similarity
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P48739 |
jPOSTi | P48739 |
MassIVEi | P48739 |
MaxQBi | P48739 |
PaxDbi | P48739 |
PeptideAtlasi | P48739 |
PRIDEi | P48739 |
ProteomicsDBi | 55934 [P48739-1] 55935 [P48739-2] 6893 |
PTM databases
iPTMneti | P48739 |
MetOSitei | P48739 |
PhosphoSitePlusi | P48739 |
SwissPalmi | P48739 |
Expressioni
Tissue specificityi
Widely expressed in various tissues including brain.
Gene expression databases
Bgeei | ENSG00000180957, Expressed in gingival epithelium and 252 other tissues |
ExpressionAtlasi | P48739, baseline and differential |
Genevisiblei | P48739, HS |
Organism-specific databases
HPAi | ENSG00000180957, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsP48739
Protein-protein interaction databases
BioGRIDi | 117261, 29 interactors |
IntActi | P48739, 9 interactors |
MINTi | P48739 |
STRINGi | 9606.ENSP00000321266 |
Miscellaneous databases
RNActi | P48739, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3668, Eukaryota |
GeneTreei | ENSGT00940000155101 |
HOGENOMi | CLU_046509_0_0_1 |
InParanoidi | P48739 |
OMAi | AIHEEAW |
OrthoDBi | 951268at2759 |
PhylomeDBi | P48739 |
TreeFami | TF313279 |
Family and domain databases
Gene3Di | 3.30.530.20, 1 hit |
InterProi | View protein in InterPro IPR001666, PI_transfer IPR023393, START-like_dom_sf |
PANTHERi | PTHR10658, PTHR10658, 1 hit |
Pfami | View protein in Pfam PF02121, IP_trans, 1 hit |
PRINTSi | PR00391, PITRANSFER |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P48739-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVLIKEFRVV LPCSVQEYQV GQLYSVAEAS KNETGGGEGI EVLKNEPYEK
60 70 80 90 100
DGEKGQYTHK IYHLKSKVPA FVRMIAPEGS LVFHEKAWNA YPYCRTIVTN
110 120 130 140 150
EYMKDDFFIK IETWHKPDLG TLENVHGLDP NTWKTVEIVH IDIADRSQVE
160 170 180 190 200
PADYKADEDP ALFQSVKTKR GPLGPNWKKE LANSPDCPQM CAYKLVTIKF
210 220 230 240 250
KWWGLQSKVE NFIQKQEKRI FTNFHRQLFC WIDKWIDLTM EDIRRMEDET
260 270
QKELETMRKR GSVRGTSAAD V
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A0A0MSW4 | A0A0A0MSW4_HUMAN | Phosphatidylinositol transfer prote... | PITPNB | 271 | Annotation score: | ||
B3KYB6 | B3KYB6_HUMAN | Phosphatidylinositol transfer prote... | PITPNB | 120 | Annotation score: | ||
B3KYB7 | B3KYB7_HUMAN | Phosphatidylinositol transfer prote... | PITPNB | 167 | Annotation score: |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055132 | 1 – 7 | MVLIKEF → MGDLLMEKC in isoform 3. 1 Publication | 7 | |
Alternative sequenceiVSP_012762 | 257 – 271 | MRKRG…SAADV → LRNQGQVRGTSAASDE in isoform 2. 1 PublicationAdd BLAST | 15 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D30037 mRNA Translation: BAA06277.1 CR456541 mRNA Translation: CAG30427.1 AK302367 mRNA Translation: BAH13686.1 AL031591 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW59743.1 BC018704 mRNA Translation: AAH18704.1 BC031427 mRNA Translation: AAH31427.1 |
CCDSi | CCDS13842.1 [P48739-1] CCDS63432.1 [P48739-3] CCDS63433.1 [P48739-2] |
RefSeqi | NP_001271206.1, NM_001284277.1 [P48739-2] NP_001271207.1, NM_001284278.1 [P48739-3] NP_036531.1, NM_012399.4 [P48739-1] |
Genome annotation databases
Ensembli | ENST00000320996; ENSP00000321266; ENSG00000180957 [P48739-2] ENST00000335272; ENSP00000334738; ENSG00000180957 [P48739-1] ENST00000634017; ENSP00000487693; ENSG00000180957 [P48739-3] |
GeneIDi | 23760 |
KEGGi | hsa:23760 |
UCSCi | uc003adk.5, human [P48739-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D30037 mRNA Translation: BAA06277.1 CR456541 mRNA Translation: CAG30427.1 AK302367 mRNA Translation: BAH13686.1 AL031591 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW59743.1 BC018704 mRNA Translation: AAH18704.1 BC031427 mRNA Translation: AAH31427.1 |
CCDSi | CCDS13842.1 [P48739-1] CCDS63432.1 [P48739-3] CCDS63433.1 [P48739-2] |
RefSeqi | NP_001271206.1, NM_001284277.1 [P48739-2] NP_001271207.1, NM_001284278.1 [P48739-3] NP_036531.1, NM_012399.4 [P48739-1] |
3D structure databases
SMRi | P48739 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117261, 29 interactors |
IntActi | P48739, 9 interactors |
MINTi | P48739 |
STRINGi | 9606.ENSP00000321266 |
Chemistry databases
SwissLipidsi | SLP:000000416 |
PTM databases
iPTMneti | P48739 |
MetOSitei | P48739 |
PhosphoSitePlusi | P48739 |
SwissPalmi | P48739 |
Genetic variation databases
BioMutai | PITPNB |
DMDMi | 1346772 |
Proteomic databases
EPDi | P48739 |
jPOSTi | P48739 |
MassIVEi | P48739 |
MaxQBi | P48739 |
PaxDbi | P48739 |
PeptideAtlasi | P48739 |
PRIDEi | P48739 |
ProteomicsDBi | 55934 [P48739-1] 55935 [P48739-2] 6893 |
Protocols and materials databases
Antibodypediai | 24304, 278 antibodies |
DNASUi | 23760 |
Genome annotation databases
Ensembli | ENST00000320996; ENSP00000321266; ENSG00000180957 [P48739-2] ENST00000335272; ENSP00000334738; ENSG00000180957 [P48739-1] ENST00000634017; ENSP00000487693; ENSG00000180957 [P48739-3] |
GeneIDi | 23760 |
KEGGi | hsa:23760 |
UCSCi | uc003adk.5, human [P48739-1] |
Organism-specific databases
CTDi | 23760 |
DisGeNETi | 23760 |
GeneCardsi | PITPNB |
HGNCi | HGNC:9002, PITPNB |
HPAi | ENSG00000180957, Low tissue specificity |
MIMi | 606876, gene |
neXtProti | NX_P48739 |
OpenTargetsi | ENSG00000180957 |
PharmGKBi | PA33336 |
VEuPathDBi | HostDB:ENSG00000180957.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3668, Eukaryota |
GeneTreei | ENSGT00940000155101 |
HOGENOMi | CLU_046509_0_0_1 |
InParanoidi | P48739 |
OMAi | AIHEEAW |
OrthoDBi | 951268at2759 |
PhylomeDBi | P48739 |
TreeFami | TF313279 |
Enzyme and pathway databases
PathwayCommonsi | P48739 |
Reactomei | R-HSA-1483196, PI and PC transport between ER and Golgi membranes |
Miscellaneous databases
BioGRID-ORCSi | 23760, 32 hits in 996 CRISPR screens |
ChiTaRSi | PITPNB, human |
GeneWikii | PITPNB |
GenomeRNAii | 23760 |
Pharosi | P48739, Tbio |
PROi | PR:P48739 |
RNActi | P48739, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180957, Expressed in gingival epithelium and 252 other tissues |
ExpressionAtlasi | P48739, baseline and differential |
Genevisiblei | P48739, HS |
Family and domain databases
Gene3Di | 3.30.530.20, 1 hit |
InterProi | View protein in InterPro IPR001666, PI_transfer IPR023393, START-like_dom_sf |
PANTHERi | PTHR10658, PTHR10658, 1 hit |
Pfami | View protein in Pfam PF02121, IP_trans, 1 hit |
PRINTSi | PR00391, PITRANSFER |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIPNB_HUMAN | |
Accessioni | P48739Primary (citable) accession number: P48739 Secondary accession number(s): B3KYB8, B7Z7Q0, Q8N5W1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1996 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 176 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families