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    PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [ Homo sapiens (human) ]

    Gene ID: 23396, updated on 18-Sep-2024

    Summary

    Official Symbol
    PIP5K1Cprovided by HGNC
    Official Full Name
    phosphatidylinositol-4-phosphate 5-kinase type 1 gammaprovided by HGNC
    Primary source
    HGNC:HGNC:8996
    See related
    Ensembl:ENSG00000186111 MIM:606102; AllianceGenome:HGNC:8996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma
    Summary
    This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
    Expression
    Broad expression in testis (RPKM 14.7), brain (RPKM 13.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PIP5K1C in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3630183..3700468, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3608310..3678870, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3630181..3700466, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3605850-3606424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3606998-3607571 Neighboring gene thromboxane A2 receptor Neighboring gene CACTIN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3618043-3618915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3623949-3624450 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3624451-3624950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3625177-3625738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3625739-3626300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:3626301-3626862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3643569-3644108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3644109-3644646 Neighboring gene MPRA-validated peak3250 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3665265-3666095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3672153-3672828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3673765-3674558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3675389-3675890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3679833-3680333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3681521-3682070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682071-3682618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682619-3683168 Neighboring gene Sharpr-MPRA regulatory region 323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13743 Neighboring gene Sharpr-MPRA regulatory region 5698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3699523-3700306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3707827-3708490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3708491-3709152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3709988-3710533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3712547-3713048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3713049-3713548 Neighboring gene tight junction protein 3 Neighboring gene MPRA-validated peak3252 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3761575-3761892 Neighboring gene uncharacterized LOC105372248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13744 Neighboring gene amyloid beta precursor protein binding family A member 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0589

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity TAS
    Traceable Author Statement
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in phagocytic cup IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in uropod TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
    Names
    PIP5K1gamma
    diphosphoinositide kinase
    phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
    ptdIns(4)P-5-kinase 1 gamma
    type I PIP kinase
    type I phosphatidylinositol 4-phosphate 5-kinase gamma
    NP_001182662.1
    NP_001287778.1
    NP_036530.1
    XP_011526150.1
    XP_011526151.1
    XP_016882029.1
    XP_047294489.1
    XP_047294490.1
    XP_047294491.1
    XP_047294492.1
    XP_047294493.1
    XP_054176363.1
    XP_054176364.1
    XP_054176365.1
    XP_054176366.1
    XP_054176367.1
    XP_054176368.1
    XP_054176369.1
    XP_054176370.1

    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.

    Genomic

    1. NG_012161.2 RefSeqGene

      Range
      4980..75265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195733.2NP_001182662.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1, also known as PIPKIgamma640 and PIPKIgamma87).
      Source sequence(s)
      AB011161, AK315912, BC011138, DC389567
      Consensus CDS
      CCDS56074.1
      UniProtKB/TrEMBL
      B4DVZ9
      Related
      ENSP00000445992.1, ENST00000539785.5
      Conserved Domains (1) summary
      cd17308
      Location:76449
      PIPKc_PIP5K1C; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) and similar proteins
    2. NM_001300849.2NP_001287778.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 3

      See identical proteins and their annotated locations for NP_001287778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as PIPKIgamma_v5) encodes the longest isoform (3, also known as PIPKIgamma_i5).
      Source sequence(s)
      FJ965537, HY000479
      Consensus CDS
      CCDS74257.1
      UniProtKB/TrEMBL
      B4DVZ9
      Related
      ENSP00000466363.1, ENST00000589578.5
      Conserved Domains (2) summary
      PHA03151
      Location:497672
      PHA03151; hypothetical protein; Provisional
      smart00330
      Location:103443
      PIPKc; Phosphatidylinositol phosphate kinases
    3. NM_012398.3NP_036530.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform 2

      See identical proteins and their annotated locations for NP_036530.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate, in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2, also known as PIPKIgamma668 and PIPKIgamma90) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB011161, AK315912, BC011138, DC389567
      Consensus CDS
      CCDS32872.1
      UniProtKB/Swiss-Prot
      B7Z9E7, C6GIJ7, C6GIJ8, O60331, Q7LE07
      UniProtKB/TrEMBL
      B4DVZ9
      Related
      ENSP00000335333.3, ENST00000335312.8
      Conserved Domains (1) summary
      cd17308
      Location:76449
      PIPKc_PIP5K1C; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) and similar proteins

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3630183..3700468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438535.1XP_047294491.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X6

      UniProtKB/TrEMBL
      B4DVZ9
    2. XM_017026540.3XP_016882029.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X4

      UniProtKB/TrEMBL
      B4DVZ9
    3. XM_011527849.2XP_011526151.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X5

      UniProtKB/TrEMBL
      B4DVZ9
      Conserved Domains (1) summary
      smart00330
      Location:103443
      PIPKc; Phosphatidylinositol phosphate kinases
    4. XM_011527848.2XP_011526150.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X3

      UniProtKB/TrEMBL
      B4DVZ9
      Conserved Domains (2) summary
      PHA03151
      Location:497665
      PHA03151; hypothetical protein; Provisional
      cd17308
      Location:76449
      PIPKc_PIP5K1C; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (PIP5K1gamma) and similar proteins
    5. XM_047438533.1XP_047294489.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1

      UniProtKB/TrEMBL
      B4DVZ9
      Related
      ENSP00000444779.1, ENST00000537021.1
    6. XM_047438534.1XP_047294490.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2

      UniProtKB/TrEMBL
      B4DVZ9
    7. XM_047438536.1XP_047294492.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X7

      UniProtKB/TrEMBL
      B4DVZ9
    8. XM_047438537.1XP_047294493.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3608310..3678870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320393.1XP_054176368.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X6

      UniProtKB/TrEMBL
      B4DVZ9
    2. XM_054320391.1XP_054176366.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X4

      UniProtKB/TrEMBL
      B4DVZ9
    3. XM_054320392.1XP_054176367.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X5

      UniProtKB/TrEMBL
      B4DVZ9
    4. XM_054320390.1XP_054176365.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X3

      UniProtKB/TrEMBL
      B4DVZ9
    5. XM_054320388.1XP_054176363.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X1

      UniProtKB/TrEMBL
      B4DVZ9
    6. XM_054320389.1XP_054176364.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X2

      UniProtKB/TrEMBL
      B4DVZ9
    7. XM_054320394.1XP_054176369.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X7

      UniProtKB/TrEMBL
      B4DVZ9
    8. XM_054320395.1XP_054176370.1  phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform X8