Human Gene IP6K1 (uc003cxm.1)
  Description: Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 1, mRNA.
RefSeq Summary (NM_153273): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:49,761,728-49,823,973 Size: 62,246 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr3:49,764,555-49,785,473 Size: 20,919 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:49,761,728-49,823,973)mRNA (may differ from genome)Protein (441 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IP6K1_HUMAN
DESCRIPTION: RecName: Full=Inositol hexakisphosphate kinase 1; Short=InsP6 kinase 1; EC=2.7.4.21; AltName: Full=Inositol hexaphosphate kinase 1;
FUNCTION: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.
CATALYTIC ACTIVITY: ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate.
CATALYTIC ACTIVITY: ATP + 1D-myo-inositol 1,3,4,5,6- pentakisphosphate = ADP + 1D-myo-inositol diphosphate tetrakisphosphate (isomeric configuration unknown).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
SIMILARITY: Belongs to the inositol phosphokinase (IPK) family.
SEQUENCE CAUTION: Sequence=BAA13393.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IP6K1
CDC HuGE Published Literature: IP6K1

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.40 RPKM in Brain - Cerebellum
Total median expression: 765.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -148.30315-0.471 Picture PostScript Text
3' UTR -1182.722827-0.418 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005522 - IPK

Pfam Domains:
PF03770 - Inositol polyphosphate kinase

SCOP Domains:
56104 - SAICAR synthase-like

ModBase Predicted Comparative 3D Structure on Q92551
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity
GO:0000828 inositol hexakisphosphate kinase activity
GO:0000829 inositol heptakisphosphate kinase activity
GO:0000832 inositol hexakisphosphate 5-kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0052723 inositol hexakisphosphate 1-kinase activity
GO:0052724 inositol hexakisphosphate 3-kinase activity
GO:0052836 inositol 5-diphosphate pentakisphosphate 5-kinase activity
GO:0052839 inositol diphosphate tetrakisphosphate kinase activity

Biological Process:
GO:0016310 phosphorylation
GO:0032958 inositol phosphate biosynthetic process
GO:0043647 inositol phosphate metabolic process
GO:0046854 phosphatidylinositol phosphorylation

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  D87452 - Homo sapiens KIAA0263 mRNA for KIAA0263 protein.
AK295689 - Homo sapiens cDNA FLJ57373 complete cds, highly similar to Inositol hexaphosphate kinase 1 (EC 2.7.4.21).
JD540112 - Sequence 521136 from Patent EP1572962.
JD140843 - Sequence 121867 from Patent EP1572962.
JD424748 - Sequence 405772 from Patent EP1572962.
DQ589929 - Homo sapiens piRNA piR-57041, complete sequence.
JD024111 - Sequence 5135 from Patent EP1572962.
JD028286 - Sequence 9310 from Patent EP1572962.
JD565627 - Sequence 546651 from Patent EP1572962.
JD272690 - Sequence 253714 from Patent EP1572962.
DQ598859 - Homo sapiens piRNA piR-36925, complete sequence.
JD024222 - Sequence 5246 from Patent EP1572962.
JD030008 - Sequence 11032 from Patent EP1572962.
JD209242 - Sequence 190266 from Patent EP1572962.
JD222034 - Sequence 203058 from Patent EP1572962.
JD135070 - Sequence 116094 from Patent EP1572962.
DQ597577 - Homo sapiens piRNA piR-35643, complete sequence.
DQ585953 - Homo sapiens piRNA piR-53065, complete sequence.
AK289772 - Homo sapiens cDNA FLJ76219 complete cds, highly similar to Homo sapiens inositol hexaphosphate kinase 1 (IHPK1), transcriptvariant 1, mRNA.
DQ579995 - Homo sapiens piRNA piR-48107, complete sequence.
BC012944 - Homo sapiens inositol hexakisphosphate kinase 1, mRNA (cDNA clone MGC:9925 IMAGE:3872311), complete cds.
DQ578911 - Homo sapiens piRNA piR-47023, complete sequence.
KJ898097 - Synthetic construct Homo sapiens clone ccsbBroadEn_07491 IP6K1 gene, encodes complete protein.
KJ905382 - Synthetic construct Homo sapiens clone ccsbBroadEn_14946 IP6K1 gene, encodes complete protein.
AB383825 - Synthetic construct DNA, clone: pF1KSDA0263, Homo sapiens IHPK1 gene for inositol hexaphosphate kinase 1, complete cds, without stop codon, in Flexi system.
JD444445 - Sequence 425469 from Patent EP1572962.
JD119820 - Sequence 100844 from Patent EP1572962.
JD282793 - Sequence 263817 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92551 (Reactome details) participates in the following event(s):

R-HSA-1855227 IP6 is phosphorylated to 5-PP-IP5 by IP6K1/3 in the cytosol
R-HSA-1855223 I(1,3,4,5,6)P5 is phosphorylated to 5-PP-IP4 by IP6K1/3 in the cytosol
R-HSA-1855193 1-PP-IP4 is phosphorylated to 1,5-(PP)2-IP3 by IP6K1/3 in the cytosol
R-HSA-1855158 5-PP-IP5 is phosphorylated to 5-PPP-IP5 by IP6K1/3 in the cytosol
R-HSA-1855194 1-PP-IP5 is phosphorylated to 1,5-(PP)2-IP4 by IP6K1/3 in the cytosol
R-HSA-1855157 1-PP-IP5 is phosphorylated to 1,5-(PP)2-IP4 by IP6K1/2 in the nucleus
R-HSA-1855207 IP6 is phosphorylated to 5-PP-IP5 by IP6K1/2 in the nucleus
R-HSA-1855230 5-PP-IP4 is phosphorylated to 1,5-(PP)2-IP3 by IP6K1/2 in the nucleus
R-HSA-1855224 5-PP-IP5 is phosphorylated to 5-PPP-IP5 by IP6K1/2 in the nucleus
R-HSA-1855181 I(1,3,4,5,6)P5 is phosphorylated to 5-PP-IP4 by IP6K1/2 in the nucleus
R-HSA-1855167 Synthesis of pyrophosphates in the cytosol
R-HSA-1855191 Synthesis of IPs in the nucleus
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K157, A8MUX4, IHPK1, IP6K1_HUMAN, KIAA0263, NM_153273, NP_001006115, Q7L3I7, Q92551, Q96E38
UCSC ID: uc003cxm.1
RefSeq Accession: NM_153273
Protein: Q92551 (aka IP6K1_HUMAN or IHK1_HUMAN)
CCDS: CCDS33760.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_153273.3
exon count: 6CDS single in 3' UTR: no RNA size: 4468
ORF size: 1326CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2826.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.