TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] See more...

Aliases for PIP4P1 Gene

Aliases for PIP4P1 Gene

  • Phosphatidylinositol-4,5-Bisphosphate 4-Phosphatase 1 2 3 5
  • Transmembrane Protein 55B 2 3 4
  • Type I Phosphatidylinositol-4,5-Bisphosphate 4-Phosphatase 2 3
  • Type 1 Phosphatidylinositol 4,5-Bisphosphate 4-Phosphatase 3 4
  • Type I PtdIns-4,5-P(2) 4-Phosphatase 2 3
  • Type 1 PtdIns-4,5-P2 4-Ptase 3 4
  • PtdIns-4,5-P2 4-Ptase I 3 4
  • EC 3.1.3.78 4 50
  • C14orf9 3 4
  • TMEM55B 3 4
  • PtdIns-4,5-P(2) 4-Phosphatase Type I 3
  • Chromosome 14 Open Reading Frame 9 2
  • MGC26684 2
  • PIP4P1 5

External Ids for PIP4P1 Gene

Previous HGNC Symbols for PIP4P1 Gene

  • C14orf9
  • TMEM55B

Summaries for PIP4P1 Gene

Entrez Gene Summary for PIP4P1 Gene

  • TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

GeneCards Summary for PIP4P1 Gene

PIP4P1 (Phosphatidylinositol-4,5-Bisphosphate 4-Phosphatase 1) is a Protein Coding gene. Diseases associated with PIP4P1 include Lung Mucoepidermoid Carcinoma and Meniere Disease. Among its related pathways are Glycerophospholipid biosynthesis and Regulation of TP53 Activity through Acetylation. An important paralog of this gene is PIP4P2.

UniProtKB/Swiss-Prot Summary for PIP4P1 Gene

  • Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) (PubMed:16365287). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (PubMed:16365287). Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules (PubMed:29146937). Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid-dependent activation of mTORC1 (PubMed:29644770). May play a role in the regulation of cellular cholesterol metabolism (PubMed:25035345).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP4P1 Gene

Genomics for PIP4P1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIP4P1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIP4P1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP4P1

Genomic Locations for PIP4P1 Gene

Latest Assembly
chr14:20,457,681-20,461,612
(GRCh38/hg38)
Size:
3,932 bases
Orientation:
Minus strand

Previous Assembly
chr14:20,925,840-20,929,593
(GRCh37/hg19 by Entrez Gene)
Size:
3,754 bases
Orientation:
Minus strand

chr14:20,925,878-20,929,771
(GRCh37/hg19 by Ensembl)
Size:
3,894 bases
Orientation:
Minus strand

Genomic View for PIP4P1 Gene

Genes around PIP4P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIP4P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIP4P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIP4P1 Gene

Proteins for PIP4P1 Gene

  • Protein details for PIP4P1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86T03-PP4P1_HUMAN
    Recommended name:
    Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase
    Protein Accession:
    Q86T03
    Secondary Accessions:
    • B2RA35
    • Q86U09
    • Q8WUC0
    • Q9BU67
    • Q9NSU8

    Protein attributes for PIP4P1 Gene

    Size:
    277 amino acids
    Molecular mass:
    29470 Da
    Quaternary structure:
    • Interacts (via transmembrane domain) with ATP6V0D1 (PubMed:29644770). Interacts with LAMTOR1 (PubMed:29644770). Interacts with RRAGA and RRAGC (By similarity).
    SequenceCaution:
    • Sequence=CAB70896.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD62347.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: May be due to intron retention.

    Alternative splice isoforms for PIP4P1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIP4P1 Gene

Selected DME Specific Peptides for PIP4P1 Gene

Q86T03:
  • GEDPPPYSPLTSP
  • DRTLARCPHCRKVSSIG
  • VCNEATPIK
  • GKKYVRCPCNCLLICK
  • GVRVICGHCKN
  • RIINLGP
  • GPLSPEPQP
  • HQHVVKC
  • ERSPLLS

Post-translational modifications for PIP4P1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIP4P1 Gene

Domains & Families for PIP4P1 Gene

Gene Families for PIP4P1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIP4P1 Gene

InterPro:

Suggested Antigen Peptide Sequences for PIP4P1 Gene

GenScript: Design optimal peptide antigens:
  • Type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase (TM55B_HUMAN)
genes like me logo Genes that share domains with PIP4P1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP4P1 Gene

Function for PIP4P1 Gene

Molecular function for PIP4P1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P) (PubMed:16365287). Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4-bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3-monophosphate (PubMed:16365287). Regulates lysosomal positioning by recruiting JIP4 to lysosomal membranes, thus inducing retrograde transport of lysosomes along microtubules (PubMed:29146937). Contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent amino acid-dependent activation of mTORC1 (PubMed:29644770). May play a role in the regulation of cellular cholesterol metabolism (PubMed:25035345).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:25674, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456; EC=3.1.3.78; Evidence={ECO:0000269|PubMed:16365287};.
UniProtKB/Swiss-Prot Induction:
By sterol depletion.

Enzyme Numbers (IUBMB) for PIP4P1 Gene

Phenotypes From GWAS Catalog for PIP4P1 Gene

Gene Ontology (GO) - Molecular Function for PIP4P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29644770
GO:0016787 hydrolase activity IEA --
GO:0034597 phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity IEA,TAS --
genes like me logo Genes that share ontologies with PIP4P1: view
genes like me logo Genes that share phenotypes with PIP4P1: view

Animal Models for PIP4P1 Gene

MGI Knock Outs for PIP4P1:
  • Pip4p1 Pip4p1<tm1(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4P1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIP4P1 Gene

Localization for PIP4P1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIP4P1 Gene

Late endosome membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Cytoplasmic vesicle, phagosome membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIP4P1 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
nucleus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIP4P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 16365287
GO:0005768 endosome IEA --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with PIP4P1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIP4P1 Gene

Pathways & Interactions for PIP4P1 Gene

genes like me logo Genes that share pathways with PIP4P1: view

Gene Ontology (GO) - Biological Process for PIP4P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006991 response to sterol depletion IDA 25035345
GO:0008203 cholesterol metabolic process IMP 25035345
GO:0032418 lysosome localization IMP 29146937
GO:0046856 phosphatidylinositol dephosphorylation IEA,IDA 16365287
genes like me logo Genes that share ontologies with PIP4P1: view

No data available for SIGNOR curated interactions for PIP4P1 Gene

Drugs & Compounds for PIP4P1 Gene

(2) Drugs for PIP4P1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0

(379) Additional Compounds for PIP4P1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphoric acid
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(32:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1W7)
PI(16:0/16:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoic acid
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phosphoinositol
PI(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phospho-D-myo-inositol
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
182509-29-1
genes like me logo Genes that share compounds with PIP4P1: view

Transcripts for PIP4P1 Gene

mRNA/cDNA for PIP4P1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4P1

Alternative Splicing Database (ASD) splice patterns (SP) for PIP4P1 Gene

No ASD Table

Relevant External Links for PIP4P1 Gene

GeneLoc Exon Structure for
PIP4P1

Expression for PIP4P1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP4P1

mRNA Expression by UniProt/SwissProt for PIP4P1 Gene:

Q86T03-PP4P1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PIP4P1 Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Lung(4.3)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP4P1 Gene

Orthologs for PIP4P1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIP4P1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM55B 29 30
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM55B 29 30
  • 93.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM55B 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmem55b 29
  • 89.79 (n)
Mouse
(Mus musculus)
Mammalia Tmem55b 29 30
  • 89.44 (n)
OneToOne
Pip4p1 16
Dog
(Canis familiaris)
Mammalia TMEM55B 29 30
  • 86.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM55B 30
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM55B 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem55b 29
  • 67.51 (n)
Str.11869 29
Zebrafish
(Danio rerio)
Actinopterygii TMEM55B (2 of 2) 30
  • 73 (a)
OneToMany
TMEM55B (1 of 2) 30
  • 70 (a)
OneToMany
zgc:123304 29
  • 65.3 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006243 29
  • 56.32 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6707 29 30
  • 53.33 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.2 29 30
  • 50.85 (n)
OneToMany
Species where no ortholog for PIP4P1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PIP4P1 Gene

ENSEMBL:
Gene Tree for PIP4P1 (if available)
TreeFam:
Gene Tree for PIP4P1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIP4P1: view image
Alliance of Genome Resources:
Additional Orthologs for PIP4P1

Paralogs for PIP4P1 Gene

Paralogs for PIP4P1 Gene

Pseudogenes.org Pseudogenes for PIP4P1 Gene

genes like me logo Genes that share paralogs with PIP4P1: view

Variants for PIP4P1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP4P1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs143980244 Benign: not provided 20,458,637(-) C/G
NM_001100814.2(PIP4P1):c.777G>C (p.Leu259=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIP4P1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIP4P1 Gene

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545

Variation tolerance for PIP4P1 Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIP4P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIP4P1
Leiden Open Variation Database (LOVD)
PIP4P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP4P1 Gene

Disorders for PIP4P1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIP4P1 Gene - From: COP

Disorder Aliases PubMed IDs
lung mucoepidermoid carcinoma
  • mucoepidermoid carcinoma of lung
meniere disease
  • meniere's disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIP4P1

genes like me logo Genes that share disorders with PIP4P1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIP4P1 Gene

Publications for PIP4P1 Gene

  1. The identification and characterization of two phosphatidylinositol-4,5-bisphosphate 4-phosphatases. (PMID: 16365287) Ungewickell A … Majerus PW (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4
  2. TMEM55B contributes to lysosomal homeostasis and amino acid-induced mTORC1 activation. (PMID: 29644770) Hashimoto Y … Nakayama KI (Genes to cells : devoted to molecular & cellular mechanisms 2018) 3 4
  3. TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes. (PMID: 29146937) Willett R … Puertollano R (Nature communications 2017) 3 4
  4. Transmembrane protein 55B is a novel regulator of cellular cholesterol metabolism. (PMID: 25035345) Medina MW … Krauss RM (Arteriosclerosis, thrombosis, and vascular biology 2014) 3 4
  5. Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase regulates stress-induced apoptosis. (PMID: 17940011) Zou J … Majerus PW (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3

Products for PIP4P1 Gene

Sources for PIP4P1 Gene