This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011] See more...

Aliases for IP6K1 Gene

Aliases for IP6K1 Gene

  • Inositol Hexakisphosphate Kinase 1 2 3 4 5
  • Inositol Hexaphosphate Kinase 1 2 3 4
  • InsP6 Kinase 1 3 4
  • EC 2.7.4.21 4 51
  • KIAA0263 2 4
  • IHPK1 3 4
  • ATP:1D-Myo-Inositol-Hexakisphosphate Phosphotransferase 3
  • Pi Uptake Stimulator 3
  • IP6K1 5
  • PiUS 3

External Ids for IP6K1 Gene

Previous HGNC Symbols for IP6K1 Gene

  • IHPK1

Previous GeneCards Identifiers for IP6K1 Gene

  • GC03M049737
  • GC03M049761
  • GC03M049739
  • GC03M049743
  • GC03M049816
  • GC03M049826
  • GC03M049835
  • GC03M049902
  • GC03M049747
  • GC03M049752
  • GC03M049759
  • GC03M049775
  • GC03M049782
  • GC03M049793
  • GC03M049802
  • GC03M049812

Summaries for IP6K1 Gene

Entrez Gene Summary for IP6K1 Gene

  • This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

GeneCards Summary for IP6K1 Gene

IP6K1 (Inositol Hexakisphosphate Kinase 1) is a Protein Coding gene. Diseases associated with IP6K1 include Kaufman Oculocerebrofacial Syndrome and Kagami-Ogata Syndrome. Among its related pathways are Inositol phosphate metabolism (REACTOME) and Inositol phosphate metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include inositol-1,4,5-trisphosphate 3-kinase activity and inositol hexakisphosphate 1-kinase activity. An important paralog of this gene is IP6K3.

UniProtKB/Swiss-Prot Summary for IP6K1 Gene

  • Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.

Gene Wiki entry for IP6K1 Gene

Additional gene information for IP6K1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IP6K1 Gene

Genomics for IP6K1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IP6K1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IP6K1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IP6K1

Top Transcription factor binding sites by QIAGEN in the IP6K1 gene promoter:
  • AhR
  • AML1a
  • AP-2alphaA
  • AREB6
  • GR
  • GR-alpha
  • HOXA5
  • NF-1
  • NF-1/L

Genomic Locations for IP6K1 Gene

Genomic Locations for IP6K1 Gene
chr3:49,724,294-49,786,542
(GRCh38/hg38)
Size:
62,249 bases
Orientation:
Minus strand
chr3:49,761,727-49,823,975
(GRCh37/hg19)
Size:
62,249 bases
Orientation:
Minus strand

Genomic View for IP6K1 Gene

Genes around IP6K1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IP6K1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IP6K1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IP6K1 Gene

Proteins for IP6K1 Gene

  • Protein details for IP6K1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92551-IP6K1_HUMAN
    Recommended name:
    Inositol hexakisphosphate kinase 1
    Protein Accession:
    Q92551
    Secondary Accessions:
    • A8K157
    • A8MUX4
    • Q7L3I7
    • Q96E38

    Protein attributes for IP6K1 Gene

    Size:
    441 amino acids
    Molecular mass:
    50236 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA13393.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IP6K1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IP6K1 Gene

Selected DME Specific Peptides for IP6K1 Gene

Q92551:
  • SYRFYSSS
  • SREQRFYESLP
  • CGMQVYQ
  • LDLKMGTRQ
  • VDVRMIDFAH
  • FGLENLI

Post-translational modifications for IP6K1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IP6K1 Gene

Antibody Products

  • Abcam antibodies for IP6K1
  • Boster Bio Antibodies for IP6K1

Domains & Families for IP6K1 Gene

Gene Families for IP6K1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for IP6K1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IP6K1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57373, highly similar to Inositol hexaphosphate kinase 1 (EC 2.7.4.21) (A8MUX4_HUMAN)
  • Inositol hexaphosphate kinase 1 (IP6K1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92551

UniProtKB/Swiss-Prot:

IP6K1_HUMAN :
  • Belongs to the inositol phosphokinase (IPK) family.
Family:
  • Belongs to the inositol phosphokinase (IPK) family.
genes like me logo Genes that share domains with IP6K1: view

Function for IP6K1 Gene

Molecular function for IP6K1 Gene

UniProtKB/Swiss-Prot Function:
Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol hexakisphosphate + ATP = 5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + ADP; Xref=Rhea:RHEA:12793, ChEBI:CHEBI:30616, ChEBI:CHEBI:58130, ChEBI:CHEBI:58628, ChEBI:CHEBI:456216; EC=2.7.4.21;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-diphospho-myo-inositol 2,3,4,5,6-pentakisphosphate + ATP + H(+) = 1,5-bis(diphospho)-1D-myo-inositol 2,3,4,6-tetrakisphosphate + ADP; Xref=Rhea:RHEA:37467, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:74946, ChEBI:CHEBI:77983, ChEBI:CHEBI:456216; EC=2.7.4.21;.

Enzyme Numbers (IUBMB) for IP6K1 Gene

Phenotypes From GWAS Catalog for IP6K1 Gene

Gene Ontology (GO) - Molecular Function for IP6K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000828 inositol hexakisphosphate kinase activity IDA 10574768
GO:0000832 inositol hexakisphosphate 5-kinase activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with IP6K1: view
genes like me logo Genes that share phenotypes with IP6K1: view

Animal Models for IP6K1 Gene

MGI Knock Outs for IP6K1:

Animal Model Products

  • Taconic Biosciences Mouse Models for IP6K1

CRISPR Products

miRNA for IP6K1 Gene

miRTarBase miRNAs that target IP6K1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IP6K1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IP6K1 Gene

Localization for IP6K1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IP6K1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IP6K1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IP6K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IP6K1: view

Pathways & Interactions for IP6K1 Gene

genes like me logo Genes that share pathways with IP6K1: view

Gene Ontology (GO) - Biological Process for IP6K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process IEA,IBA 21873635
GO:0043647 inositol phosphate metabolic process TAS --
GO:0046854 phosphatidylinositol phosphorylation IDA 10574768
GO:0120163 negative regulation of cold-induced thermogenesis ISS 27701146
genes like me logo Genes that share ontologies with IP6K1: view

No data available for SIGNOR curated interactions for IP6K1 Gene

Drugs & Compounds for IP6K1 Gene

(2) Drugs for IP6K1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fytic acid Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for IP6K1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with IP6K1: view

Transcripts for IP6K1 Gene

mRNA/cDNA for IP6K1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IP6K1

Alternative Splicing Database (ASD) splice patterns (SP) for IP6K1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:

Relevant External Links for IP6K1 Gene

GeneLoc Exon Structure for
IP6K1

Expression for IP6K1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IP6K1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IP6K1 Gene

This gene is overexpressed in Heart (25.0), Testis (10.2), Fetal Brain (8.3), and Fetal testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IP6K1 Gene



Protein tissue co-expression partners for IP6K1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IP6K1

SOURCE GeneReport for Unigene cluster for IP6K1 Gene:

Hs.386168

Evidence on tissue expression from TISSUES for IP6K1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Eye(4.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with IP6K1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IP6K1 Gene

Orthologs for IP6K1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IP6K1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IP6K1 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IP6K1 30 31
  • 92.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IP6K1 30 31
  • 92.14 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ip6k1 30 17 31
  • 91.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ip6k1 30
  • 91.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IP6K1 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IP6K1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IP6K1 30 31
  • 78.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IP6K1 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ip6k1 30
  • 75.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15102 30
Zebrafish
(Danio rerio)
Actinopterygii ip6k1 30 31
  • 70.85 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10082 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F30A10.3 30 31
  • 47.35 (n)
ManyToMany
Y22D7AR.6 31
  • 30 (a)
ManyToMany
T20F7.3 31
  • 26 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KCS1 31
  • 11 (a)
OneToMany
ARG82 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for IP6K1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IP6K1 Gene

ENSEMBL:
Gene Tree for IP6K1 (if available)
TreeFam:
Gene Tree for IP6K1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IP6K1: view image

Paralogs for IP6K1 Gene

Paralogs for IP6K1 Gene

(3) SIMAP similar genes for IP6K1 Gene using alignment to 3 proteins:

  • IP6K1_HUMAN
  • C9JNA8_HUMAN
  • L8EAR7_HUMAN
genes like me logo Genes that share paralogs with IP6K1: view

Variants for IP6K1 Gene

Additional dbSNP identifiers (rs#s) for IP6K1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IP6K1 Gene

Variant ID Type Subtype PubMed ID
dgv116n6 CNV deletion 16902084
esv1442016 CNV insertion 17803354
esv2544793 CNV insertion 19546169
nsv1139114 CNV deletion 24896259
nsv508217 CNV deletion 20534489
nsv834688 CNV loss 17160897
nsv965165 CNV duplication 23825009

Variation tolerance for IP6K1 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IP6K1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IP6K1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IP6K1 Gene

Disorders for IP6K1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IP6K1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kaufman oculocerebrofacial syndrome
  • kos
kagami-ogata syndrome
  • kos
- elite association - COSMIC cancer census association via MalaCards
Search IP6K1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IP6K1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IP6K1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IP6K1 Gene

Publications for IP6K1 Gene

  1. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PMID: 20307617) Morgan AR … Ferguson LR (Human immunology 2010) 3 41
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. (PMID: 15221640) Kamimura J … Matsumoto N (Journal of human genetics 2004) 3 23
  4. Identification and characterization of a novel inositol hexakisphosphate kinase. (PMID: 11502751) Saiardi A … Snyder SH (The Journal of biological chemistry 2001) 3 4
  5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4

Products for IP6K1 Gene

  • Signalway Proteins for IP6K1

Sources for IP6K1 Gene