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    PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha [ Homo sapiens (human) ]

    Gene ID: 8394, updated on 2-Oct-2018

    Summary

    Official Symbol
    PIP5K1Aprovided by HGNC
    Official Full Name
    phosphatidylinositol-4-phosphate 5-kinase type 1 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8994
    See related
    Ensembl:ENSG00000143398 MIM:603275; Vega:OTTHUMG00000012351
    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
    Expression
    Ubiquitous expression in testis (RPKM 22.2), placenta (RPKM 13.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See PIP5K1A in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (151197954..151249536)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151171021..151222007)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNFAIP8L2-SCNM1 readthrough Neighboring gene sodium channel modifier 1 Neighboring gene tropomodulin 4 Neighboring gene vacuolar protein sorting 72 homolog Neighboring gene proteasome 26S subunit, non-ATPase 4 Neighboring gene ZNF687 antisense RNA 1 Neighboring gene zinc finger protein 687

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env-gp120 protein induces PIP(2) production in permissive lymphocytes through the activation of phosphatidylinositol-4-phosphate 5-kinase (PI4P5-K) Ialpha. Cells overexpressing mutant D227A (D/A)-PI4P5-K Ialpha severely reduce HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-phosphate 4-kinase activity TAS
    Traceable Author Statement
    more info
     
    1-phosphatidylinositol-3-phosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
     
    1-phosphatidylinositol-4-phosphate 5-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    1-phosphatidylinositol-4-phosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    1-phosphatidylinositol-5-kinase activity TAS
    Traceable Author Statement
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,4-bisphosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycerophospholipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    keratinocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    phagocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion HDA PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mRNA cleavage and polyadenylation specificity factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4-phosphate 5-kinase type-1 alpha
    Names
    68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha
    PIP5K1-alpha
    PIP5KIalpha
    phosphatidylinositol 4-phosphate 5-kinase type I alpha
    ptdIns(4)P-5-kinase 1 alpha
    NP_001129108.1
    NP_001129109.1
    NP_001129110.1
    NP_001317618.1
    NP_003548.1
    XP_005245582.1
    XP_005245584.1
    XP_005245585.1
    XP_005245587.1
    XP_005245589.1
    XP_006711626.1
    XP_006711627.1
    XP_006711630.1
    XP_006711631.2
    XP_011508345.1
    XP_011508347.1
    XP_011508348.1
    XP_011508350.1
    XP_011508351.1
    XP_016857928.1
    XP_016857929.1
    XP_016857930.1
    XP_024305897.1
    XP_024305898.1
    XP_024305899.1

    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_001135636.1NP_001129108.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame coding exons, as compared to variant 1. The resulting isoform (3) is shorter but has identical N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AK291015, AK295691, AK309826, BC007833, DA759212, U78576
      Consensus CDS
      CCDS44220.1
      UniProtKB/Swiss-Prot
      Q99755
      Related
      ENSP00000415648.2, OTTHUMP00000235065, ENST00000441902.6, OTTHUMT00000392973
      Conserved Domains (1) summary
      smart00330
      Location:97409
      PIPKc; Phosphatidylinositol phosphate kinases
    2. NM_001135637.1NP_001129109.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 4

      See identical proteins and their annotated locations for NP_001129109.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks 3 nt at an alternate splice site and two in-frame exons in the CDS, as compared to variant 1. The resulting isoform (4) is shorter but has identical N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AK309826, BC007833, DA759212, U78575, U78577
      Consensus CDS
      CCDS44221.1
      UniProtKB/Swiss-Prot
      Q99755
      Related
      ENSP00000357885.4, OTTHUMP00000014289, ENST00000368890.8, OTTHUMT00000034423
      Conserved Domains (1) summary
      smart00330
      Location:96436
      PIPKc; Phosphatidylinositol phosphate kinases
    3. NM_001135638.1NP_001129110.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 1

      See identical proteins and their annotated locations for NP_001129110.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK309826, BC007833, DA759212, U78576
      Consensus CDS
      CCDS44219.1
      UniProtKB/Swiss-Prot
      Q99755
      Related
      ENSP00000357883.4, OTTHUMP00000014291, ENST00000368888.8, OTTHUMT00000034425
      Conserved Domains (1) summary
      smart00330
      Location:109449
      PIPKc; Phosphatidylinositol phosphate kinases
    4. NM_001330689.1NP_001317618.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK295691, AL592424
      Consensus CDS
      CCDS81374.1
      UniProtKB/Swiss-Prot
      Q99755
      UniProtKB/TrEMBL
      A6PW57
      Related
      ENSP00000386432.1, ENST00000409426.5
    5. NM_003557.2NP_003548.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform 2

      See identical proteins and their annotated locations for NP_003548.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks 3 nt at an alternate splice site and an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) is shorter but has identical N- and C-termini, as compared to isoform 1.
      Source sequence(s)
      AK291015, AK309826, BC007833, DA759212
      Consensus CDS
      CCDS990.1
      UniProtKB/Swiss-Prot
      Q99755
      Related
      ENSP00000271663.7, OTTHUMP00000014290, ENST00000349792.9, OTTHUMT00000034424
      Conserved Domains (1) summary
      smart00330
      Location:96436
      PIPKc; Phosphatidylinositol phosphate kinases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      151197954..151249536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450130.1XP_024305898.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X9

      Conserved Domains (1) summary
      smart00330
      Location:101441
      PIPKc; Phosphatidylinositol phosphate kinases
    2. XM_006711568.4XP_006711631.2  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X3

      Conserved Domains (1) summary
      smart00330
      Location:114454
      PIPKc; Phosphatidylinositol phosphate kinases
    3. XM_011510043.3XP_011508345.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X8

      Conserved Domains (1) summary
      smart00330
      Location:102442
      PIPKc; Phosphatidylinositol phosphate kinases
    4. XM_024450129.1XP_024305897.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X4

      Conserved Domains (1) summary
      smart00330
      Location:113453
      PIPKc; Phosphatidylinositol phosphate kinases
    5. XM_006711563.4XP_006711626.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X1

      Conserved Domains (1) summary
      smart00330
      Location:121461
      PIPKc; Phosphatidylinositol phosphate kinases
    6. XM_005245525.5XP_005245582.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X2

      Conserved Domains (1) summary
      smart00330
      Location:119459
      PIPKc; Phosphatidylinositol phosphate kinases
    7. XM_005245528.5XP_005245585.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X7

      Conserved Domains (1) summary
      smart00330
      Location:107447
      PIPKc; Phosphatidylinositol phosphate kinases
    8. XM_017002439.1XP_016857928.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X15

    9. XM_005245527.4XP_005245584.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X6

      Conserved Domains (1) summary
      smart00330
      Location:108448
      PIPKc; Phosphatidylinositol phosphate kinases
    10. XM_017002440.1XP_016857929.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X16

    11. XM_005245532.4XP_005245589.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X12

      Conserved Domains (1) summary
      smart00330
      Location:89429
      PIPKc; Phosphatidylinositol phosphate kinases
    12. XM_011510046.3XP_011508348.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X13

      Conserved Domains (1) summary
      smart00330
      Location:88428
      PIPKc; Phosphatidylinositol phosphate kinases
    13. XM_006711564.4XP_006711627.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X5

      Conserved Domains (1) summary
      smart00330
      Location:109449
      PIPKc; Phosphatidylinositol phosphate kinases
    14. XM_006711567.4XP_006711630.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

      See identical proteins and their annotated locations for XP_006711630.1

      Conserved Domains (1) summary
      smart00330
      Location:73413
      PIPKc; Phosphatidylinositol phosphate kinases
    15. XM_011510049.3XP_011508351.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

      See identical proteins and their annotated locations for XP_011508351.1

      Conserved Domains (1) summary
      smart00330
      Location:73413
      PIPKc; Phosphatidylinositol phosphate kinases
    16. XM_005245530.5XP_005245587.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X10

      Conserved Domains (1) summary
      smart00330
      Location:101441
      PIPKc; Phosphatidylinositol phosphate kinases
    17. XM_011510045.3XP_011508347.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X11

      Conserved Domains (1) summary
      smart00330
      Location:100440
      PIPKc; Phosphatidylinositol phosphate kinases
    18. XM_024450131.1XP_024305899.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X14

      Conserved Domains (1) summary
      smart00330
      Location:61401
      PIPKc; Phosphatidylinositol phosphate kinases
    19. XM_017002441.2XP_016857930.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

      Conserved Domains (1) summary
      smart00330
      Location:73413
      PIPKc; Phosphatidylinositol phosphate kinases
    20. XM_011510048.3XP_011508350.1  phosphatidylinositol 4-phosphate 5-kinase type-1 alpha isoform X17

      See identical proteins and their annotated locations for XP_011508350.1

      Conserved Domains (1) summary
      smart00330
      Location:73413
      PIPKc; Phosphatidylinositol phosphate kinases
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