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    PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 [ Homo sapiens (human) ]

    Gene ID: 138429, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PIP5KL1provided by HGNC
    Official Full Name
    phosphatidylinositol-4-phosphate 5-kinase like 1provided by HGNC
    Primary source
    HGNC:HGNC:28711
    See related
    Ensembl:ENSG00000167103 MIM:612865; AllianceGenome:HGNC:28711
    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
    PIPKH
    Summary
    PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PIP5KL1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127920881..127930777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140128656..140138557, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130683160..130693056, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ST6GALNAC4-ST6GALNAC6-AK1 readthrough Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130658469-130659290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660112-130660932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660933-130661753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130667147-130667673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130667812-130668411 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130688781-130689504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130689505-130690228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130690229-130690952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130691676-130692399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130693123-130693846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130696662-130697162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130697163-130697663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29062 Neighboring gene uncharacterized LOC124902280 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 2, regulatory Neighboring gene estrogen-induced osteoclastogenesis regulator 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
    • 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. Enforced expression of phosphatidylinositol 4-phosphate 5-kinase homolog alters PtdIns(4,5)P(2) distribution and the localization of small G-proteins. Yang Y, et al. Sci Rep, 2019 Oct 15. PMID 31616009, Free PMC Article
    2. Hepatic LDL receptor-related protein-1 deficiency alters mitochondrial dynamics through phosphatidylinositol 4,5-bisphosphate reduction. Chinnarasu S, et al. J Biol Chem, 2021 Jan-Jun. PMID 33548224, Free PMC Article
    3. Overexpression of PIP5KL1 suppresses cell proliferation and migration in human gastric cancer cells. Shi L, et al. Mol Biol Rep, 2010 Jun. PMID 19680787
    4. Identification and characterization of a phosphoinositide phosphate kinase homolog. Chang JD, et al. J Biol Chem, 2004 Mar 19. PMID 14701839
    5. Cell-based screening and validation of human novel genes associated with cell viability. Wang L, et al. J Biomol Screen, 2006 Jun. PMID 16751333

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enforced expression of phosphatidylinositol 4-phosphate 5-kinase homolog alters PtdIns(4,5)P2 distribution and the localization of small G-proteins.
      Title: Enforced expression of phosphatidylinositol 4-phosphate 5-kinase homolog alters PtdIns(4,5)P(2) distribution and the localization of small G-proteins.
    2. These studies indicate a functional negative correlation between elevated levels of PIP5KL1 and the development of human gastric cancer.
      Title: Overexpression of PIP5KL1 suppresses cell proliferation and migration in human gastric cancer cells.
    3. PIPKH acts as a scaffold to localize and regulate type I PI(4)P 5-kinases and the synthesis of PI(3,4,5)P(3)
      Title: Identification and characterization of a phosphoinositide phosphate kinase homolog.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • MGC46424

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol 4-phosphate 5-kinase-like protein 1
    Names
    PI(4)P 5-kinase-like protein 1
    phosphatidylinositol phosphate kinase homolog
    ptdIns(4)P-5-kinase-like protein 1
    NP_001128691.1
    NP_775763.1
    XP_047278732.1
    XP_047278733.1
    XP_047278734.1
    XP_047278735.1
    XP_054217964.1
    XP_054217965.1
    XP_054217966.1
    XP_054217967.1

    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_001135219.2 → NP_001128691.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001128691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL157935, BC042184, BE881330
      Consensus CDS
      CCDS48030.1
      UniProtKB/Swiss-Prot
      Q5T9C9, Q8IVS3
      Related
      ENSP00000373399.4, ENST00000388747.9
      Conserved Domains (1) summary
      pfam01504
      Location:128 → 392
      PIP5K; Phosphatidylinositol-4-phosphate 5-Kinase

    2. NM_173492.2 → NP_775763.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_775763.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons and has an alternate 5' segment, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AL157935, BC042184
      Consensus CDS
      CCDS6885.1
      UniProtKB/Swiss-Prot
      Q5T9C9
      Related
      ENSP00000300432.3, ENST00000300432.3
      Conserved Domains (1) summary
      pfam01504
      Location:1 → 189
      PIP5K; Phosphatidylinositol-4-phosphate 5-Kinase

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127920881..127930777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422778.1 → XP_047278734.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X3

    2. XM_047422777.1 → XP_047278733.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X2

    3. XM_047422776.1 → XP_047278732.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X1

    4. XM_047422779.1 → XP_047278735.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X4

    RNA

    1. XR_007061247.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140128656..140138557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361989.1 → XP_054217964.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X1

    2. XM_054361992.1 → XP_054217967.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X4

    3. XM_054361991.1 → XP_054217966.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X3

    4. XM_054361990.1 → XP_054217965.1  phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform X5

      UniProtKB/Swiss-Prot
      Q5T9C9, Q8IVS3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T9C9.2 GenPept UniProtKB/Swiss-Prot:Q5T9C9

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