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

    Gene ID: 5298, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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

    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)

    NEW Try the new Transcript table

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

      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:514801
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
      cd22246
      Location:266
      PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta
    2. NM_001198774.2NP_001185703.1  phosphatidylinositol 4-kinase beta isoform 2

      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:514801
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
      cd22246
      Location:266
      PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta
    3. NM_001198775.3NP_001185704.1  phosphatidylinositol 4-kinase beta isoform 3

      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:197484
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    4. NM_001330721.2NP_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:529816
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    5. NM_001369623.2NP_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:529816
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    6. NM_001369624.1NP_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:514801
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
      cd22246
      Location:266
      PI4KB_NTD; N-terminal domain of phosphatidylinositol 4-kinase beta
    7. NM_001369625.1NP_001356554.1  phosphatidylinositol 4-kinase beta isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL391069, KF459527
      Conserved Domains (1) summary
      cd05168
      Location:526813
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    8. NM_001369626.1NP_001356555.1  phosphatidylinositol 4-kinase beta isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL391069, KF459527
      Conserved Domains (1) summary
      cd05168
      Location:529837
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    9. NM_001369628.1NP_001356557.1  phosphatidylinositol 4-kinase beta isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL391069, KF459527
      Conserved Domains (1) summary
      cd05168
      Location:526834
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    10. NM_001369629.2NP_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:529816
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    11. NM_002651.4NP_002642.1  phosphatidylinositol 4-kinase beta isoform 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:541828
      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_017001488.2XP_016856977.1  phosphatidylinositol 4-kinase beta isoform X2

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

      Conserved Domains (1) summary
      cd05168
      Location:541849
      PI4Kc_III_beta; Catalytic domain of Type III Phosphoinositide 4-kinase beta
    3. XM_017001486.2XP_016856975.1  phosphatidylinositol 4-kinase beta isoform X2

    4. XM_047422590.1XP_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_054337070.1XP_054193045.1  phosphatidylinositol 4-kinase beta isoform X5

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

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

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

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

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