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

Gene ID: 138429, updated on 14-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
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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 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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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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