U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta [ Homo sapiens (human) ]

    Gene ID: 8395, updated on 2-May-2024

    Summary

    Official Symbol
    PIP5K1Bprovided by HGNC
    Official Full Name
    phosphatidylinositol-4-phosphate 5-kinase type 1 betaprovided by HGNC
    Primary source
    HGNC:HGNC:8995
    See related
    Ensembl:ENSG00000107242 MIM:602745; AllianceGenome:HGNC:8995
    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
    MSS4; STM7
    Summary
    Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in regulation of phosphatidylinositol 3-kinase signaling. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PIP5K1B in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68705240..69009176)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80878758..81182716)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71320156..71624092)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TMEM252 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:71231697-71232198 Neighboring gene uncharacterized LOC105376071 Neighboring gene dermatan sulfate epimerase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19928 Neighboring gene NANOG hESC enhancer GRCh37_chr9:71283997-71284549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71319670-71320595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28440 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:71358945-71359139 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:71370585-71371135 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:71394470-71394884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71394889-71395717 Neighboring gene adaptor related protein complex 3 subunit mu 2 pseudogene Neighboring gene PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:71440431-71440932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28441 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:71487058-71487642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:71546947-71548146 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:71561653-71562329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71564759-71565378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71565379-71565998 Neighboring gene uncharacterized LOC101927069 Neighboring gene RNA, U6 small nuclear 820, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28443 Neighboring gene Sharpr-MPRA regulatory region 10428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28444 Neighboring gene CRISPRi-validated cis-regulatory element chr9.764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28445 Neighboring gene Sharpr-MPRA regulatory region 187 Neighboring gene Friedreich ataxia repeat instability region Neighboring gene Sharpr-MPRA regulatory region 4997 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:71660286-71661281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71669749-71670250 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:71670251-71670750 Neighboring gene protein kinase cAMP-activated catalytic subunit gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:71681521-71682120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:71683371-71683870 Neighboring gene frataxin

    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

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in uropod IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4-phosphate 5-kinase type-1 beta
    Names
    PIP5K1-beta
    PIP5KIbeta
    phosphatidylinositol 4-phosphate 5-kinase type I beta
    protein STM-7
    ptdIns(4)P-5-kinase 1 beta
    type I phosphatidylinositol 4-phosphate 5-kinase beta
    NP_001265182.1
    NP_001362965.1
    NP_001362966.1
    NP_001362968.1
    NP_001362969.1
    NP_001362970.1
    NP_003549.1
    XP_005252319.1
    XP_011517384.1
    XP_011517386.1
    XP_016870677.1
    XP_016870678.1
    XP_047279907.1
    XP_047279908.1
    XP_054219920.1
    XP_054219921.1
    XP_054219922.1
    XP_054219923.1
    XP_054219924.1
    XP_054219925.1
    XP_054219926.1

    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_001278253.2NP_001265182.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

      See identical proteins and their annotated locations for NP_001265182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon in the 3' end, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 2. Variants 3, 7 and 8 encode the same isoform.
      Source sequence(s)
      AK295587, AL354794, CB988216, CK299479
      Consensus CDS
      CCDS65063.1
      UniProtKB/Swiss-Prot
      O14986
      Related
      ENSP00000438082.1, ENST00000541509.5
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    2. NM_001376036.1NP_001362965.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL162730, AL354794, AL356219
      Consensus CDS
      CCDS6624.1
      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    3. NM_001376037.1NP_001362966.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL162730, AL354794, AL356219
      Consensus CDS
      CCDS6624.1
      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    4. NM_001376039.1NP_001362968.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL162730, AL354794, AL356219
      Consensus CDS
      CCDS6624.1
      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    5. NM_001376040.1NP_001362969.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL162730, AL354794, AL356219
      Consensus CDS
      CCDS65063.1
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    6. NM_001376041.1NP_001362970.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL162730, AL354794, AL356219
      Consensus CDS
      CCDS65063.1
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    7. NM_003558.4NP_003549.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform 2

      See identical proteins and their annotated locations for NP_003549.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2). Variants 2, 4, 5 and 6 encode the same isoform.
      Source sequence(s)
      AK292734, AL354794, CB988216, CK299479, U78579
      Consensus CDS
      CCDS6624.1
      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Related
      ENSP00000265382.2, ENST00000265382.8
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      68705240..69009176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015189.2XP_016870678.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    2. XM_047423951.1XP_047279907.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
    3. XM_047423952.1XP_047279908.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
    4. XM_017015188.2XP_016870677.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    5. XM_011519082.3XP_011517384.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      See identical proteins and their annotated locations for XP_011517384.1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    6. XM_011519084.4XP_011517386.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      See identical proteins and their annotated locations for XP_011517386.1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins
    7. XM_005252262.6XP_005252319.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

      See identical proteins and their annotated locations for XP_005252319.1

      UniProtKB/Swiss-Prot
      A8K9L9, B4DIG7, O14986, P78518, P78519, Q5T5K6, Q5T5K8, Q5T5K9, Q5VZ00, Q7KYT5, Q8NHQ5, Q92749
      Related
      ENSP00000435778.1, ENST00000478500.3
      Conserved Domains (1) summary
      cd17307
      Location:27400
      PIPKc_PIP5K1B; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 beta (PIP5K1beta) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      80878758..81182716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363951.1XP_054219926.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    2. XM_054363946.1XP_054219921.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    3. XM_054363947.1XP_054219922.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    4. XM_054363949.1XP_054219924.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    5. XM_054363945.1XP_054219920.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    6. XM_054363950.1XP_054219925.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    7. XM_054363948.1XP_054219923.1  phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031687.1: Suppressed sequence

      Description
      NM_001031687.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein and because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.