Human Gene HIPK1 (ENST00000369558.5) from GENCODE V44
  Description: Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 6, mRNA. (from RefSeq NM_001369807)
RefSeq Summary (NM_001369806): The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000369558.5
Gencode Gene: ENSG00000163349.22
Transcript (Including UTRs)
   Position: hg38 chr1:113,929,710-113,977,804 Size: 48,095 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr1:113,940,384-113,973,512 Size: 33,129 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:113,929,710-113,977,804)mRNA (may differ from genome)Protein (1210 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HIPK1_HUMAN
DESCRIPTION: RecName: Full=Homeodomain-interacting protein kinase 1; EC=2.7.11.1; AltName: Full=Nuclear body-associated kinase 2;
FUNCTION: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti- oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
SUBUNIT: Interacts with Nkx1-2, Nkx2-5, MYB, PARK7, DAXX and p53/TP53. Part of a cytoplasmic complex made of HIPK1, DAB2IP and MAP3K5 in response to TNF. This complex formation promotes MAP3K5- JNK activation and subsequent apoptosis.
INTERACTION: P04637:TP53; NbExp=2; IntAct=EBI-692891, EBI-366083;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear. Translocates from nucleus to cytoplasm in response to stress stimuli via SENP1-mediated desumoylation.
TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in skeletal muscle and heart. Overexpressed in breast cancer cell lines. Isoform 2 is highly expressed in testis.
PTM: Autophosphorylated. Phosphorylated and activated by JNK1.
PTM: Degraded by PARK7 at the protein level.
PTM: Sumoylated. When conjugated it is directed to nuclear speckles. SENP1-mediated desumoylation is mediated by TNF in response to stress stimuli, triggering transient translocation from nucleus to cytoplasm.
SIMILARITY: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily.
SIMILARITY: Contains 1 protein kinase domain.

-  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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.07 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 522.15 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 -137.40232-0.592 Picture PostScript Text
3' UTR -1179.404292-0.275 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
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain

ModBase Predicted Comparative 3D Structure on Q86Z02
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
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0001654 eye development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007224 smoothened signaling pathway
GO:0008284 positive regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway
GO:0010842 retina layer formation
GO:0016310 phosphorylation
GO:0030182 neuron differentiation
GO:0034333 adherens junction assembly
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
GO:0045766 positive regulation of angiogenesis
GO:0048596 embryonic camera-type eye morphogenesis
GO:0060059 embryonic retina morphogenesis in camera-type eye
GO:0060216 definitive hemopoiesis
GO:0060235 lens induction in camera-type eye
GO:0061072 iris morphogenesis
GO:0072577 endothelial cell apoptotic process
GO:0097191 extrinsic apoptotic signaling pathway
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0016605 PML body
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK302726 - Homo sapiens cDNA FLJ57817 complete cds, highly similar to Homeodomain-interacting protein kinase 1 (EC 2.7.11.1).
BC033012 - Homo sapiens homeodomain interacting protein kinase 1, mRNA (cDNA clone MGC:26642 IMAGE:4830408), complete cds.
AK122662 - Homo sapiens cDNA FLJ16098 fis, clone TESTI2005767, highly similar to Homeodomain-interacting protein kinase 1 (EC 2.7.11.1).
AB089957 - Homo sapiens HIPK1 mRNA for homeodomain-interacting protein kinase-1, complete cds.
LF206273 - JP 2014500723-A/13776: Polycomb-Associated Non-Coding RNAs.
MA441850 - JP 2018138019-A/13776: Polycomb-Associated Non-Coding RNAs.
LF352881 - JP 2014500723-A/160384: Polycomb-Associated Non-Coding RNAs.
MA588458 - JP 2018138019-A/160384: Polycomb-Associated Non-Coding RNAs.
LF352880 - JP 2014500723-A/160383: Polycomb-Associated Non-Coding RNAs.
MA588457 - JP 2018138019-A/160383: Polycomb-Associated Non-Coding RNAs.
AL833829 - Homo sapiens mRNA; cDNA DKFZp434M0913 (from clone DKFZp434M0913).
BC028408 - Homo sapiens homeodomain interacting protein kinase 1, mRNA (cDNA clone MGC:33548 IMAGE:4821915), complete cds.
BC036057 - Homo sapiens homeodomain interacting protein kinase 1, mRNA (cDNA clone MGC:33446 IMAGE:5272816), complete cds.
CU690278 - Synthetic construct Homo sapiens gateway clone IMAGE:100020438 5' read HIPK1 mRNA.
KJ905645 - Synthetic construct Homo sapiens clone ccsbBroadEn_15286 HIPK1 gene, encodes complete protein.
KJ905646 - Synthetic construct Homo sapiens clone ccsbBroadEn_15287 HIPK1 gene, encodes complete protein.
JD275021 - Sequence 256045 from Patent EP1572962.
JD154466 - Sequence 135490 from Patent EP1572962.
AB014530 - Homo sapiens mRNA for KIAA0630 protein, partial cds.
BC052493 - Homo sapiens homeodomain interacting protein kinase 1, mRNA (cDNA clone IMAGE:5278515).
JD154652 - Sequence 135676 from Patent EP1572962.
BC033339 - Homo sapiens homeodomain interacting protein kinase 1, mRNA (cDNA clone IMAGE:4778472), partial cds.
JD491655 - Sequence 472679 from Patent EP1572962.
JD326263 - Sequence 307287 from Patent EP1572962.

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

Protein Q86Z02 (Reactome details) participates in the following event(s):

R-HSA-6799431 TP53 binds HIPK1
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJ34, ENST00000369558.1, ENST00000369558.2, ENST00000369558.3, ENST00000369558.4, HIPK1_HUMAN, KIAA0630, MYAK, NBAK2, NM_001369807, O75125, Q5SQL2, Q5SQL4, Q5SQL5, Q86Z02, Q8IYD7, Q8NDN5, Q8NEB6, Q8TBZ1, uc001een.1, uc001een.2, uc001een.3, uc001een.4
UCSC ID: ENST00000369558.5
RefSeq Accession: NM_001369806
Protein: Q86Z02 (aka HIPK1_HUMAN or HIK1_HUMAN)
CCDS: CCDS867.1

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