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PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [ Homo sapiens (human) ]

Gene ID: 90809, updated on 17-Jun-2019

Summary

Official Symbol
PIP4P1provided by HGNC
Official Full Name
phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1provided by HGNC
Primary source
HGNC:HGNC:19299
See related
Ensembl:ENSG00000165782 MIM:609865
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C14orf9; TMEM55B
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 22.8), thyroid (RPKM 17.4) and 25 other tissues See more
Orthologs

Genomic context

See PIP4P1 in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (20457853..20461612, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20926012..20929637, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene O-sialoglycoprotein endopeptidase Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene purine nucleoside phosphorylase Neighboring gene ribonuclease A family member 10 (inactive)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with transmembrane protein 55B (TMEM55B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • 3-phosphoinositide degradation, organism-specific biosystem (from BIOCYC)
    3-phosphoinositide degradation, organism-specific biosystem
    3-phosphoinositide degradation
  • 3-phosphoinositide degradation, conserved biosystem (from BIOCYC)
    3-phosphoinositide degradation, conserved biosystem|FRAME: Phosphoinositides "Phosphoinositides"| play a key role in signal transduction in the eukaryotic cell, transmitting signals from the cell surface to modulate intracellular processes. The 3-pho...
  • D-myo-inositol-5-phosphate metabolism, organism-specific biosystem (from BIOCYC)
    D-myo-inositol-5-phosphate metabolism, organism-specific biosystemGeneral Background : MYO-INOSITOL "myo-Inositol"-containing phospholipids play an important role in the control of cellular functions, being part of the intracellular signal transductions pathways f...
  • D-myo-inositol-5-phosphate metabolism, conserved biosystem (from BIOCYC)
    D-myo-inositol-5-phosphate metabolism, conserved biosystemGeneral Background |FRAME: MYO-INOSITOL "myo-Inositol"|-containing phospholipids play an important role in the control of cellular functions within eukaryotic cells, being part of the intracellular ...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • PI5P Regulates TP53 Acetylation, organism-specific biosystem (from REACTOME)
    PI5P Regulates TP53 Acetylation, organism-specific biosystemUnder conditions of cellular stress, nuclear levels of phosphatidylinositol-5-phosphate (PI5P) increase and, through interaction with ING2, result in nuclear retention/accumulation of ING2. ING2 bind...
  • Phosphatidylinositol signaling system, organism-specific biosystem (from KEGG)
    Phosphatidylinositol signaling system, organism-specific biosystem
    Phosphatidylinositol signaling system
  • Phosphatidylinositol signaling system, conserved biosystem (from KEGG)
    Phosphatidylinositol signaling system, conserved biosystem
    Phosphatidylinositol signaling system
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Acetylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Acetylation, organism-specific biosystemTranscriptional activity of TP53 is positively regulated by acetylation of several of its lysine residues. BRD7 binds TP53 and promotes acetylation of TP53 lysine residue K382 by acetyltransferase EP...
  • Synthesis of PIPs in the nucleus, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs in the nucleus, organism-specific biosystemUnder conditions of cellular stress, nuclear levels of phosphatidylinositol-5-phosphate (PI5P) increase. Type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase TMEM55B translocates to the nucleus...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
    superpathway of inositol phosphate compounds, organism-specific biosystem
    superpathway of inositol phosphate compounds

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26684, DKFZp434M0519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
proton-transporting V-type ATPase complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
response to sterol depletion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane TAS
Traceable Author Statement
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
phagocytic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase
Names
ptdIns-4,5-P(2) 4-phosphatase type I
ptdIns-4,5-P2 4-Ptase I
transmembrane protein 55B
type 1 PtdIns-4,5-P2 4-Ptase
type I PtdIns-4,5-P(2) 4-phosphatase
type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase
NP_001094284.1
NP_653169.2
XP_024305507.1
XP_024305508.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001100814.2NP_001094284.1  type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1

    See identical proteins and their annotated locations for NP_001094284.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK314021, BX161490, BX248025, CA430067
    Consensus CDS
    CCDS41911.1
    UniProtKB/Swiss-Prot
    Q86T03
    Related
    ENSP00000381102.4, ENST00000398020.6
    Conserved Domains (1) summary
    pfam09788
    Location:4277
    Tmemb_55A; Transmembrane protein 55A
  2. NM_144568.3NP_653169.2  type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 2

    See identical proteins and their annotated locations for NP_653169.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK314021, BX161490, CA430067
    Consensus CDS
    CCDS9551.1
    UniProtKB/Swiss-Prot
    Q86T03
    Related
    ENSP00000250489.4, ENST00000250489.8
    Conserved Domains (1) summary
    pfam09788
    Location:4270
    Tmemb_55A; Transmembrane protein 55A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    20457853..20461612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449740.1XP_024305508.1  type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform X2

    Conserved Domains (1) summary
    pfam09788
    Location:4147
    Tmemb_55A; Transmembrane protein 55A
  2. XM_024449739.1XP_024305507.1  type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform X1

    Conserved Domains (1) summary
    pfam09788
    Location:4154
    Tmemb_55A; Transmembrane protein 55A
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