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    ITPK1 inositol-tetrakisphosphate 1-kinase [ Homo sapiens (human) ]

    Gene ID: 3705, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ITPK1provided by HGNC
    Official Full Name
    inositol-tetrakisphosphate 1-kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:6177
    See related
    Ensembl:ENSG00000100605 MIM:601838; AllianceGenome:HGNC:6177
    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
    ITRPK1
    Summary
    This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in brain (RPKM 29.9), fat (RPKM 26.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITPK1 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92936914..93115925, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87168906..87347917, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93403259..93582270, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:93377003-93377546 Neighboring gene long intergenic non-protein coding RNA 2287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93403665-93404166 Neighboring gene uncharacterized LOC124903366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93418215-93418715 Neighboring gene chromogranin A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93428049-93428613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93439689-93440278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93440279-93440866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93440867-93441454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93459858-93460540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93465116-93465630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93472927-93473838 Neighboring gene Sharpr-MPRA regulatory region 15213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93475437-93475938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93477163-93477664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93477665-93478164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93480925-93481426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93481427-93481926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93482386-93482886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93484819-93485602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93485603-93486386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93500760-93501455 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93506655-93507584 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93511809-93512368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93515290-93515917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93516545-93517172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93522559-93523246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93543288-93543801 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93544610-93545178 Neighboring gene ITPK1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93550988-93551611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93554107-93554728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93558517-93559024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93564664-93565656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93604409-93604908 Neighboring gene cytochrome b5 type A pseudogene 3 Neighboring gene modulator of apoptosis 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. Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study. Guan Z, et al. Reprod Sci, 2023 May. PMID 36323916
    2. Inositol 1,3,4-trisphosphate 5/6-kinase is a protein kinase that phosphorylates the transcription factors c-Jun and ATF-2. Wilson MP, et al. J Biol Chem, 2001 Nov 2. PMID 11533064
    3. Regulation of Ins(3,4,5,6)P(4) signaling by a reversible kinase/phosphatase. Ho MW, et al. Curr Biol, 2002 Mar 19. PMID 11909533
    4. The Ins(1,3,4)P3 5/6-kinase/Ins(3,4,5,6)P4 1-kinase is not a protein kinase. Qian X, et al. Biochem J, 2005 Jul 15. PMID 15762844, Free PMC Article
    5. ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism. Desfougères Y, et al. Proc Natl Acad Sci U S A, 2019 Dec 3. PMID 31754032, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
      Title: Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.
    2. ITPK1 role in the lipid-independent synthesis of inositol phosphates.
      Title: ITPK1 mediates the lipid-independent synthesis of inositol phosphates controlled by metabolism.
    3. The results suggested that the maternal rs3783903 of ITPK1 might be associated with spina bifida, and the allele G of rs3783903 might affect the binding of AP-1 and the decrease of maternal plasma inositol hexakisphosphate concentration.
      Title: The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.
    4. Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.
      Title: Activation of PLC by an endogenous cytokine (GBP) in Drosophila S3 cells and its application as a model for studying inositol phosphate signalling through ITPK1.
    5. HEK293 cells stably expressing acetylated ITPK1 had reduced levels of the higher phosphorylated forms of inositol, compared with the levels seen in cells expressing unacetylated ITPK1
      Title: Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    8. analysis of inositol phosphate signaling pathway integration via human ITPK1
      Title: Integration of inositol phosphate signaling pathways via human ITPK1.
    9. 5/6-kinase modifies TNFalpha-induced apoptosis by interfering with the activation of TNF-R1-associated death domain
      Title: Inositol 1,3,4-trisphosphate 5/6-kinase inhibits tumor necrosis factor-induced apoptosis.
    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

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Genome-wide association study link novel loci to endometriosis.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables inositol-1,3,4,5-tetrakisphosphate 6-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables inositol-1,3,4-trisphosphate 5-kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables inositol-1,3,4-trisphosphate 5-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-1,3,4-trisphosphate 6-kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables inositol-1,3,4-trisphosphate 6-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables inositol-3,4,5,6-tetrakisphosphate 1-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol-3,4,6-trisphosphate 1-kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    involved_in inositol trisphosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    inositol-tetrakisphosphate 1-kinase
    Names
    inositol 1,3,4-trisphosphate 5/6-kinase
    ins(1,3,4)P(3) 5/6-kinase
    NP_001136065.1
    NP_001136066.1
    NP_001350636.1
    NP_055031.2
    XP_016876751.2
    XP_047287307.1
    XP_054184951.1
    XP_054184952.1
    XP_054231975.1
    XP_054231976.1

    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.

    Genomic

    1. NG_051071.1 RefSeqGene

      Range
      4995..184006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142593.3 → NP_001136065.1  inositol-tetrakisphosphate 1-kinase isoform a

      See identical proteins and their annotated locations for NP_001136065.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA770154, AF279372, AL110118, AL117192, BC018192, BX407816, BX420122, U51336
      Consensus CDS
      CCDS9907.1
      UniProtKB/Swiss-Prot
      Q13572, Q9BTL6, Q9H2E7
      UniProtKB/TrEMBL
      Q8N3Y0
      Related
      ENSP00000451091.1, ENST00000556603.6
      Conserved Domains (1) summary
      pfam05770
      Location:1 → 318
      Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-kinase

    2. NM_001142594.3 → NP_001136066.1  inositol-tetrakisphosphate 1-kinase isoform b

      See identical proteins and their annotated locations for NP_001136066.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL110118, AL117192, BC003622, BX407816, BX420122
      Consensus CDS
      CCDS45157.1
      UniProtKB/TrEMBL
      B4DE87
      Related
      ENSP00000346272.3, ENST00000354313.7
      Conserved Domains (1) summary
      cl17255
      Location:1 → 301
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    3. NM_001363707.2 → NP_001350636.1  inositol-tetrakisphosphate 1-kinase isoform c

      Status: REVIEWED

      Source sequence(s)
      AL117192
      Consensus CDS
      CCDS86425.1
      UniProtKB/TrEMBL
      G3V4M9
      Conserved Domains (1) summary
      cl17255
      Location:1 → 199
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

    4. NM_014216.6 → NP_055031.2  inositol-tetrakisphosphate 1-kinase isoform a

      See identical proteins and their annotated locations for NP_055031.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA770154, AF279372, AL110118, AL117192, BC018192, BX407816, BX420122
      Consensus CDS
      CCDS9907.1
      UniProtKB/Swiss-Prot
      Q13572, Q9BTL6, Q9H2E7
      UniProtKB/TrEMBL
      Q8N3Y0
      Related
      ENSP00000267615.5, ENST00000267615.11
      Conserved Domains (1) summary
      pfam05770
      Location:1 → 318
      Ins134_P3_kin; Inositol 1, 3, 4-trisphosphate 5/6-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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      92936914..93115925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431351.1 → XP_047287307.1  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9
      Related
      ENSP00000451893.1, ENST00000555495.5

    2. XM_017021262.2 → XP_016876751.2  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      51476..230487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328977.1 → XP_054184952.1  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9

    2. XM_054328976.1 → XP_054184951.1  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87168906..87347917 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376001.1 → XP_054231976.1  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9

    2. XM_054376000.1 → XP_054231975.1  inositol-tetrakisphosphate 1-kinase isoform X1

      UniProtKB/TrEMBL
      G3V4M9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13572.2 GenPept UniProtKB/Swiss-Prot:Q13572

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