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

    Gene ID: 5298, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.6) and 25 other tissues See more
    Orthologs
    mouse all
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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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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