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PI4KB phosphatidylinositol 4-kinase beta [ Homo sapiens (human) ]

Gene ID: 5298, updated on 2-Nov-2024

Summary

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Official Symbol
PI4KBprovided by HGNC
Official Full Name
phosphatidylinositol 4-kinase betaprovided by HGNC
Primary source
HGNC:HGNC:8984
See related
Ensembl:ENSG00000143393 MIM:602758; AllianceGenome:HGNC:8984
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
NPIK; DFNA87; PI4K92; PIK4CB; PI4KIII; PI4KBETA; PI4K-BETA; PI4KIIIBETA
Summary
Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.6) and 25 other tissues See more
Orthologs
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Genomic context

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See PI4KB in Genome Data Viewer
Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151291797..151327715, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150415490..150452405, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151264273..151300191, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1316 Neighboring gene Sharpr-MPRA regulatory region 10214 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151253738-151254622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151254623-151255508 Neighboring gene ZNF687 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151261481-151262132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151262133-151262782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151262783-151263433 Neighboring gene zinc finger protein 687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151266030-151267013 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151267014-151267998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151267999-151268981 Neighboring gene RNA, 7SL, cytoplasmic 444, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151299400-151300324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151315395-151315895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1718 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:151318990-151320189 Neighboring gene MPRA-validated peak412 silencer Neighboring gene regulatory factor X5 Neighboring gene RFX5 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:151332077-151332231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151342446-151343117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151343118-151343788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151344535-151345118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151345119-151345702 Neighboring gene selenium binding protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Cloning and characterization of a wortmannin-sensitive human phosphatidylinositol 4-kinase. Meyers R, et al. J Biol Chem, 1997 Feb 14. PMID 9020160
  2. Subcellular locations of phosphatidylinositol 4-kinase isoforms. Wong K, et al. J Biol Chem, 1997 May 16. PMID 9148941
  3. Identification and characterization of a novel human phosphatidylinositol 4-kinase. Suzuki K, et al. DNA Res, 1997 Aug 31. PMID 9405935
  4. Complementary DNA cloning and chromosomal mapping of a novel phosphatidylinositol kinase gene. Saito T, et al. DNA Res, 1997 Aug 31. PMID 9405938
  5. A role for a wortmannin-sensitive phosphatidylinositol-4-kinase in the endocytosis of muscarinic cholinergic receptors. Sorensen SD, et al. Mol Pharmacol, 1998 May. PMID 9584208

See all (96) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis.
    Title: N-terminal acetyltransferase 6 facilitates enterovirus 71 replication by regulating PI4KB expression and replication organelle biogenesis.
  2. Recruitment of PI4KIIIbeta to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins.
    Title: Recruitment of PI4KIIIβ to the Golgi by ACBD3 is dependent on an upstream pathway of a SNARE complex and golgins.
  3. Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells.
    Title: Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells.
  4. The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
    Title: The C10orf76-PI4KB axis orchestrates CERT-mediated ceramide trafficking to the distal Golgi.
  5. circSLC6A6 Sponges miR-497-5p to Promote Endometrial Cancer Progression via the PI4KB/Hedgehog Axis.
    Title: circSLC6A6 Sponges miR-497-5p to Promote Endometrial Cancer Progression via the PI4KB/Hedgehog Axis.
  6. Phosphatidylinositol 4-kinase beta mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
    Title: Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
  7. Phosphatidylinositol 4-kinase III beta regulates cell shape, migration, and focal adhesion number.
    Title: Phosphatidylinositol 4-kinase III beta regulates cell shape, migration, and focal adhesion number.
  8. Phosphatidylinositol 4-kinase IIIbeta mediates contraction-induced GLUT4 translocation and shows its anti-diabetic action in cardiomyocytes.
    Title: Phosphatidylinositol 4-kinase IIIβ mediates contraction-induced GLUT4 translocation and shows its anti-diabetic action in cardiomyocytes.
  9. PI4KB on Inclusion Bodies Formed by ER Membrane Remodeling Facilitates Replication of Human Parainfluenza Virus Type 3.
    Title: PI4KB on Inclusion Bodies Formed by ER Membrane Remodeling Facilitates Replication of Human Parainfluenza Virus Type 3.
  10. In vitro reconstitution revealed that the membrane is necessary for the formation of ACBD3:PI4KB:Rab11 protein complex at physiological (nanomolar) concentrations.
    Title: Phosphatidylinositol 4-kinase IIIβ (PI4KB) forms highly flexible heterocomplexes that include ACBD3, 14-3-3, and Rab11 proteins.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hearing loss, autosomal dominant 87
MedGen: C5830342 OMIM: 620281 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30129, DKFZp686O1820

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-phosphatidylinositol 4-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 1-phosphatidylinositol 4-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 1-phosphatidylinositol 4-kinase activity TAS
Traceable Author Statement
more info
  
enables 14-3-3 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in inner ear development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lysosome organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome TAS
Traceable Author Statement
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in rough endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
phosphatidylinositol 4-kinase beta
Names
PtdIns 4-kinase beta
phosphatidylinositol 4-kinase, catalytic, beta
phosphatidylinositol 4-kinase, wortmannin-sensitive
type III phosphatidylinositol 4-kinase beta
NP_001185702.1
NP_001185703.1
NP_001185704.1
NP_001317650.1
NP_001356552.1
NP_001356553.1
NP_001356554.1
NP_001356555.1
NP_001356557.1
NP_001356558.1
NP_002642.1
XP_011507936.1
XP_016856975.1
XP_016856977.1
XP_047278546.1
XP_054193041.1
XP_054193042.1
XP_054193043.1
XP_054193044.1
XP_054193045.1
XP_054193046.1

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_001198773.3 → NP_001185702.1  phosphatidylinositol 4-kinase beta isoform 2

    See identical proteins and their annotated locations for NP_001185702.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, resulting in a downstream AUG start codon, and also lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AB005910, AK311292, AL391069, U81802
    Consensus CDS
    CCDS55638.1
    UniProtKB/Swiss-Prot
    Q9UBF8
    Related
    ENSP00000357866.1, ENST00000368872.5
    Conserved Domains (2) summary
    cd05168
    Location:514 → 801
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    cd22246
    Location:2 → 66
    PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta

  2. NM_001198774.2 → NP_001185703.1  phosphatidylinositol 4-kinase beta isoform 2

    See identical proteins and their annotated locations for NP_001185703.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two separated exons in the 5' region, as compared to variant 2. The resulting isoform (2) has a shorter N-terminus and lacks an internal segment, as compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AB005910, AL391069, BC040300
    Consensus CDS
    CCDS55638.1
    UniProtKB/Swiss-Prot
    Q9UBF8
    Related
    ENSP00000357868.4, ENST00000368874.8
    Conserved Domains (2) summary
    cd05168
    Location:514 → 801
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    cd22246
    Location:2 → 66
    PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta

  3. NM_001198775.3 → NP_001185704.1  phosphatidylinositol 4-kinase beta isoform 3

    See identical proteins and their annotated locations for NP_001185704.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three consecutive exons in the 5' region, as compared to variant 1. The resulting in isoform (3) has a much shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK294606, AL391069, BC000029, DC350175, DC365634
    Consensus CDS
    CCDS55637.1
    UniProtKB/Swiss-Prot
    Q9UBF8
    Related
    ENSP00000433149.1, ENST00000529142.5
    Conserved Domains (1) summary
    cd05168
    Location:197 → 484
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  4. NM_001330721.2 → NP_001317650.1  phosphatidylinositol 4-kinase beta isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL391069, KF459527
    Consensus CDS
    CCDS81376.1
    UniProtKB/Swiss-Prot
    B4DGI2, O15096, P78405, Q5VWB9, Q5VWC0, Q5VWC1, Q9BWR6, Q9UBF8
    Conserved Domains (1) summary
    cd05168
    Location:529 → 816
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  5. NM_001369623.2 → NP_001356552.1  phosphatidylinositol 4-kinase beta isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Consensus CDS
    CCDS81376.1
    UniProtKB/Swiss-Prot
    B4DGI2, O15096, P78405, Q5VWB9, Q5VWC0, Q5VWC1, Q9BWR6, Q9UBF8
    Related
    ENSP00000357867.1, ENST00000368873.6
    Conserved Domains (1) summary
    cd05168
    Location:529 → 816
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  6. NM_001369624.1 → NP_001356553.1  phosphatidylinositol 4-kinase beta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Consensus CDS
    CCDS55638.1
    Conserved Domains (2) summary
    cd05168
    Location:514 → 801
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    cd22246
    Location:2 → 66
    PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta

  7. NM_001369625.1 → NP_001356554.1  phosphatidylinositol 4-kinase beta isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Conserved Domains (1) summary
    cd05168
    Location:526 → 813
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  8. NM_001369626.1 → NP_001356555.1  phosphatidylinositol 4-kinase beta isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Conserved Domains (1) summary
    cd05168
    Location:529 → 837
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  9. NM_001369628.1 → NP_001356557.1  phosphatidylinositol 4-kinase beta isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Conserved Domains (1) summary
    cd05168
    Location:526 → 834
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  10. NM_001369629.2 → NP_001356558.1  phosphatidylinositol 4-kinase beta isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL391069, KF459527
    Consensus CDS
    CCDS81376.1
    UniProtKB/Swiss-Prot
    B4DGI2, O15096, P78405, Q5VWB9, Q5VWC0, Q5VWC1, Q9BWR6, Q9UBF8
    Conserved Domains (1) summary
    cd05168
    Location:529 → 816
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  11. NM_002651.4 → NP_002642.1  phosphatidylinositol 4-kinase beta isoform 1

    See identical proteins and their annotated locations for NP_002642.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB005910, AK311292, AL391069
    Consensus CDS
    CCDS993.1
    UniProtKB/TrEMBL
    A0A0B4J1S8
    Related
    ENSP00000357869.2, ENST00000368875.6
    Conserved Domains (1) summary
    cd05168
    Location:541 → 828
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    151291797..151327715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001488.2 → XP_016856977.1  phosphatidylinositol 4-kinase beta isoform X2

  2. XM_011509634.2 → XP_011507936.1  phosphatidylinositol 4-kinase beta isoform X1

    Conserved Domains (1) summary
    cd05168
    Location:541 → 849
    PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta

  3. XM_017001486.2 → XP_016856975.1  phosphatidylinositol 4-kinase beta isoform X2

  4. XM_047422590.1 → XP_047278546.1  phosphatidylinositol 4-kinase beta isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150415490..150452405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337070.1 → XP_054193045.1  phosphatidylinositol 4-kinase beta isoform X5

  2. XM_054337067.1 → XP_054193042.1  phosphatidylinositol 4-kinase beta isoform X4

  3. XM_054337069.1 → XP_054193044.1  phosphatidylinositol 4-kinase beta isoform X2

  4. XM_054337066.1 → XP_054193041.1  phosphatidylinositol 4-kinase beta isoform X1

  5. XM_054337068.1 → XP_054193043.1  phosphatidylinositol 4-kinase beta isoform X2

  6. XM_054337071.1 → XP_054193046.1  phosphatidylinositol 4-kinase beta isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBF8.1 GenPept UniProtKB/Swiss-Prot:Q9UBF8

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