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

Gene ID: 90809, updated on 14-Aug-2021

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
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Genomic context

See PIP4P1 in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (20457681..20461612, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20925840..20929593, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 3 pseudogene 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
GeneReviews: Not available

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26684, DKFZp434M0519

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in late endosome membrane TAS
Traceable Author Statement
more info
 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in phagocytic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in phagocytic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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_001100814.3NP_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, AL355075, 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_144568.4NP_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, AL355075, BX161490, CA430067
    Consensus CDS
    CCDS9551.1
    UniProtKB/Swiss-Prot
    Q86T03
    Related
    ENSP00000250489.4, ENST00000250489.9
    Conserved Domains (1) summary
    pfam09788
    Location:4270
    Tmemb_55A; Transmembrane protein 55A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    20457681..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

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