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PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [ Homo sapiens (human) ]

Gene ID: 5305, updated on 13-Mar-2020

Summary

Official Symbol
PIP4K2Aprovided by HGNC
Official Full Name
phosphatidylinositol-5-phosphate 4-kinase type 2 alphaprovided by HGNC
Primary source
HGNC:HGNC:8997
See related
Ensembl:ENSG00000150867 MIM:603140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha
Summary
Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 41.4), lymph node (RPKM 29.9) and 23 other tissues See more
Orthologs

Genomic context

See PIP4K2A in Genome Data Viewer
Location:
10p12.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (22534837..22714578, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22823766..23003503, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376449 Neighboring gene uncharacterized LOC105376450 Neighboring gene tRNA-Pro (GGG) 1-1 Neighboring gene VISTA enhancer hs2048 Neighboring gene RNA, U6 small nuclear 413, pseudogene Neighboring gene uncharacterized LOC105376451

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

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol-4-phosphate 5-kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
1-phosphatidylinositol-5-phosphate 4-kinase activity IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
megakaryocyte development IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
autophagosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
Names
1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha
1-phosphatidylinositol-4-phosphate kinase
1-phosphatidylinositol-4-phosphate-5-kinase
PI(5)P 4-kinase type II alpha
PIP4KII-alpha
PIP5KIII
PIP5KIIalpha
PtdIns(4)P-5-kinase B isoform
diphosphoinositide kinase 2-alpha
phosphatidylinositol 5-phosphate 4-kinase type II alpha
phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
ptdIns(4)P-5-kinase C isoform
ptdIns(5)P-4-kinase isoform 2-alpha
type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform
NP_001316991.1
NP_005019.2
XP_006717513.1
XP_016871819.1
XP_016871820.1
XP_016871821.1

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_001330062.1NP_001316991.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5'-terminal exon resulting in a different 5' UTR and use of a downstream AUG compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK294817, AL513128, HY318006
    Consensus CDS
    CCDS81443.1
    UniProtKB/Swiss-Prot
    P48426
    Related
    ENSP00000442098.1, ENST00000545335.5
    Conserved Domains (1) summary
    cl28923
    Location:1344
    PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
  2. NM_005028.5NP_005019.2  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1

    See identical proteins and their annotated locations for NP_005019.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL390318, AL513128, BC018034, DB504104
    Consensus CDS
    CCDS7141.1
    UniProtKB/Swiss-Prot
    P48426
    Related
    ENSP00000365757.4, ENST00000376573.9
    Conserved Domains (1) summary
    cd17309
    Location:27403
    PIPKc_PIP5K2A; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (PIP5K2A) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    22534837..22714578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717450.2XP_006717513.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

    See identical proteins and their annotated locations for XP_006717513.1

    Conserved Domains (1) summary
    cl02572
    Location:62354
    PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
  2. XM_017016330.1XP_016871819.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

    UniProtKB/Swiss-Prot
    P48426
    Conserved Domains (1) summary
    cl28923
    Location:1344
    PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
  3. XM_017016331.1XP_016871820.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

    UniProtKB/Swiss-Prot
    P48426
    Conserved Domains (1) summary
    cl28923
    Location:1344
    PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
  4. XM_017016332.1XP_016871821.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X3

    Conserved Domains (1) summary
    cl02572
    Location:3295
    PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...
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