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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HIPK1 Gene

protein-coding   GIFtS: 57
GCID: GC01P114471

Homeodomain Interacting Protein Kinase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Homeodomain Interacting Protein Kinase 11 2     Homeodomain-Interacting Protein Kinase 12
Nuclear Body-Associated Kinase 22 3     Nuclear Body Associated Kinase 2b2
EC 2.7.11.13 8     KIAA06303
Myak2     MYAK3
Nbak22     NBAK23
Homeodomain Interacting Protein Kinase 1-Like Protein2     

External Ids:    HGNC: 190061   Entrez Gene: 2048512   Ensembl: ENSG000001633497   OMIM: 6080035   UniProtKB: Q86Z023   

Export aliases for HIPK1 gene to outside databases

Previous GC identifers: GC01P113572 GC01P113770 GC01P114184 GC01P114203 GC01P114273 GC01P112330


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HIPK1 Gene:
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)

GeneCards Summary for HIPK1 Gene: 
HIPK1 (homeodomain interacting protein kinase 1) is a protein-coding gene. Diseases associated with HIPK1 include down syndrome, and hypoxia. GO annotations related to this gene include protein serine/threonine kinase activity and ATP binding. An important paralog of this gene is DYRK1A.

UniProtKB/Swiss-Prot: HIPK1_HUMAN, Q86Z02
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

Gene Wiki entry for HIPK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIPK1 gene promoter:
         E2F-4   Max   E2F-3a   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIPK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HIPK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIPK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13.1

HIPK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIPK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P114471:  view genomic region     (about GC identifiers)

Start:
114,471,814 bp from pter      End:
114,520,491 bp from pter
Size:
48,678 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HIPK1_HUMAN, Q86Z02 (See protein sequence)
Recommended Name: Homeodomain-interacting protein kinase 1  
Size: 1210 amino acids; 130843 Da
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
Subcellular location: Nucleus. Cytoplasm. Note=Predominantly nuclear. Translocates from nucleus to cytoplasm in
response to stress stimuli via SENP1-mediated desumoylation
Secondary accessions: A6NJ34 O75125 Q5SQL2 Q5SQL4 Q5SQL5 Q8IYD7 Q8NDN5 Q8NEB6 Q8TBZ1
Alternative splicing: 4 isoforms:  Q86Z02-1   Q86Z02-2   Q86Z02-3   Q86Z02-4   

Explore the universe of human proteins at neXtProt for HIPK1: NX_Q86Z02

Explore proteomics data for HIPK1 at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated. Phosphorylated and activated by JNK1
  • UniProtKB: Degraded by PARK7 at the protein level
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86Z02

  • 4/13 DME Specific Peptides for HIPK1 (Q86Z02) (see all 13)
     SILSRLS  SDTDEEE  LNYQSALY  HLLDFPHS 

    HIPK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIPK1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_689909.2  NP_852003.1  NP_938009.1  NP_938010.1  

    ENSEMBL proteins: 
     ENSP00000407442   ENSP00000358572   ENSP00000358571   ENSP00000358574   ENSP00000358568  
     ENSP00000422322   ENSP00000426695   ENSP00000340956   ENSP00000358566   ENSP00000355191  
     ENSP00000358567   ENSP00000384960  

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    Cloud-Clone Corp. Proteins for HIPK1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15701637
    GO:0005737cytoplasm IDA15701637
    GO:0016605PML body IEA--
    GO:0016607nuclear speck IEA--

    HIPK1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: homeodomain interacting protein kinase 1 
    HIPK subfamily

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q86Z02

    ProtoNet protein and cluster: Q86Z02

    UniProtKB/Swiss-Prot: HIPK1_HUMAN, Q86Z02
    Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. HIPK subfamily
    Similarity: Contains 1 protein kinase domain


    HIPK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HIPK1_HUMAN, Q86Z02
    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

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI12702766
    GO:0005524ATP binding IEA--
         
    HIPK1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for HIPK1:
     Decreased CYP1A1 activity afte  Decreased focal adhesion (FA)   Decreased substrate adherent c 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hipk1):
     cellular  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  tumorigenesis  vision/eye 

    HIPK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HIPK1: Hipk1tm1Mak Hipk1tm1Hko

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIPK1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIPK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/24 Interacting proteins for HIPK1 (Q86Z021, 2, 3 ENSP000003585714) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 3, ENSP000002693054EBI-692891,EBI-366083 I2D: score=4 STRING: ENSP00000269305
    SKILP127572, 3MINT-61676 I2D: score=3 
    SNIP1Q8TAD82, 3MINT-62163 I2D: score=3 
    PRPF40AO754002, 3MINT-61870 I2D: score=2 
    DAXXQ9UER73, ENSP000002660004I2D: score=5 STRING: ENSP00000396876 STRING: ENSP00000266000
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006468protein phosphorylation ----
    GO:0007224smoothened signaling pathway IEA--

    HIPK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HIPK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HIPK1

    10/11 HMDB Compounds for HIPK1 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--
    Pentadecanoic acidPentadecanoate (see all 8)1002-84-2--
    Stearic acid1-Heptadecanecarboxylate (see all 12)57-11-4--

    1 Novoseek inferred chemical compound relationship for HIPK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 35.8 1 12702766 (1)

    Search CenterWatch for drugs/clinical trials and news about HIPK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIPK1 gene (4 alternative transcripts): 
    NM_152696.3  NM_181358.2  NM_198268.2  NM_198269.2  

    Unigene Cluster for HIPK1:

    Homeodomain interacting protein kinase 1
    Hs.532363  [show with all ESTs]
    Unigene Representative Sequence: NM_198268
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426820 ENST00000369559(uc001eel.3) ENST00000369558(uc001een.3)
    ENST00000369561 ENST00000369555 ENST00000514621 ENST00000503968 ENST00000340480(uc001eeo.3 uc001eeq.3)
    ENST00000369553 ENST00000361587 ENST00000369554 ENST00000406344(uc001eep.3)

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    Additional mRNA sequence: 

    AB014530.1 AB089957.1 AK122662.1 AK302726.1 AL833829.1 BC028408.1 BC033012.2 BC033339.1 
    BC036057.1 BC052493.1 

    13 DOTS entries:

    DT.416996  DT.101983611  DT.91748538  DT.100037089  DT.100791541  DT.92461559  DT.121355792  DT.121355798 
    DT.92461517  DT.97788543  DT.75163395  DT.91723577  DT.91883394 

    24/288 AceView cDNA sequences (see all 288):

    BQ019206 AI354680 AA263006 AB089957 CN479612 AA588552 BM711346 CB155671 
    F10209 BX350131 BE349211 AI868928 NM_152696 CA405819 BX508129 AW470028 
    BQ007141 AK122662 AA654175 AI685006 AI351024 BQ720224 AI350190 AB014530 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HIPK1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
    SP1:              -     -     -                       -           -     -                                                                                       
    SP2:                                                              -     -                                                                                       
    SP3:        -     -     -     -                       -           -     -                                                                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21a · 21b ^ 22a · 22b
    SP1:        -               
    SP2:        -               
    SP3:                        
    SP4:        -               
    SP5:        -               


    ECgene alternative splicing isoforms for HIPK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HIPK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCAGTACA
    HIPK1 Expression
    About this image


    See HIPK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIPK1

    SOURCE GeneReport for Unigene cluster: Hs.532363

    UniProtKB/Swiss-Prot: HIPK1_HUMAN, Q86Z02
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for HIPK1 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hipk11 , 5 homeodomain interacting protein kinase 11, 5 92.01(n)1
    97.69(a)1
      3 (45.52 cM)5
    152571  NM_010432.21  NP_034562.21 
     1037398155 
    chicken
    (Gallus gallus)
    Aves HIPK11 homeodomain interacting protein kinase 1 80.71(n)
    90.26(a)
      419880  XM_418007.3  XP_418007.2 
    lizard
    (Anolis carolinensis)
    Reptilia HIPK16
    Uncharacterized protein
    75(a)
    1 ↔ 1
    4(129646631-129702113)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.212482 Xenopus laevis transcribed sequence 78.98(n)    BU909085.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hipk26
    si:dkey-229p15.26
    (see all 3)
    si:dkey-229p15.2
    (see all 3)
    61(a)
    54(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    18(11910098-12102227)
    23(36912215-36953693)
    fruit fly
    (Drosophila melanogaster)
    Insecta hipk6
    homeodomain interacting protein kinase
    33(a)
    1 → many
    3L(543060-581099)
    worm
    (Caenorhabditis elegans)
    Secernentea hpk-16
    C36B7.16
    (see all 3)
    Protein C36B7.1
    (see all 3)
    38(a)
    19(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    X(4211710-4217290)
    X(7112889-7114863)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YAK16
    Serine-threonine protein kinase; component of a gl...
    20(a)
    1 → many
    X(147967-150390)


    ENSEMBL Gene Tree for HIPK1 (if available)
    TreeFam Gene Tree for HIPK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIPK1 gene
    DYRK1A2  DYRK22  DYRK32  DYRK42  HIPK32  HIPK42  HIPK22  DYRK1B2  
    12 SIMAP similar genes for HIPK1 using alignment to 7 protein entries:     HIPK1_HUMAN (see all proteins):
    HIPK2    HIPK4    HIPK3    DYRK4    MAK    DYRK1A
    CDK7    DAPK1    MOK    PNCK    MAPK14    CDK4

    HIPK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/946 SNPs in HIPK1 are shown (see all 946)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0405464
    ----see VAR_0405462 G C mis40--------
    VAR_0460474
    ----see VAR_0460472 L V mis40--------
    rs1833518291,2
    --114470005(+) TGGAGC/TGCAAT 2 -- us2k10--------
    rs1154356971,2
    F--114470022(+) ATCTCG/AGCTCA 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1872052461,2
    --114470056(+) CCAGCA/GGTTCT 2 -- us2k10--------
    rs1921205041,2
    --114470212(+) CCTCCC/TGAAGT 2 -- us2k10--------
    rs766216591,2
    F--114470323(+) ATGACT/AAAACT 2 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1145643971,2
    C,F--114470439(+) CTGTAA/GGGTCC 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1853198401,2
    --114470594(+) AAGAAA/GCTCTC 2 -- us2k10--------
    rs1882475101,2
    --114470919(+) TTCTGA/GCTCAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for HIPK1 (114471814 - 114520491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HIPK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv23869CNV Loss19812545
    nsv523196CNV Loss19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608003    OMIM disorders: --

    5 diseases for HIPK1:    About MalaCards
    down syndrome    hypoxia    retinitis    endotheliitis
    breast cancer


    HIPK1 for disorders           About GeneDecksing


    Export disorders for HIPK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HIPK1 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with HIPK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cells and gene-targeted mice deficient for the p53-binding kinase homeodomain-interacting protein kinase 1 (HIPK1). (PubMed id 12702766)1, 2, 9 Kondo S.... Thukral S.K. (2003)
    2. HIPK1 interacts with c-Myb and modulates its activity through phosphorylation. (PubMed id 19646965)1, 2 Matre V....Gabrielsen O.S. (2009)
    3. DJ-1 interacts with HIPK1 and affects H2O2-induced cell death. (PubMed id 16390825)1, 2 Sekito A....Ariga H. (2006)
    4. Tumor necrosis factor alpha-induced desumoylation and cytoplasmic translocation of homeodomain-interacting protein kinase 1 are critical for apoptosis signal-regulating kinase 1-JNK/p38 activation. (PubMed id 15701637)1, 2 Li X....Min W. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Role of the ASK1-SEK1-JNK1-HIPK1 signal in Daxx trafficking and ASK1 oligomerization. (PubMed id 12968034)1, 2 Song J.J. and Lee Y.J. (2003)
    7. Homeodomain-interacting protein kinase 1 modulates Daxx localization, phosphorylation, and transcriptional activity. (PubMed id 12529400)1, 2 Ecsedy J.A.... Leder P. (2003)
    8. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    9. Large-scale genotyping identifies 41 new loci associat ed with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (2013)
    10. Mdm2 associates with Ras effector NORE1 to induce the degradation of oncoprotein HIPK1. (PubMed id 22173032)1 Lee D....Choi C.Y. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 204851 HGNC: 19006 AceView: HIPK1 Ensembl:ENSG00000163349 euGenes: HUgn204851
    ECgene: HIPK1 H-InvDB: HIPK1

    (According to HUGE)
    About This Section
    HUGE: KIAA0630

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HIPK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HIPK1 gene:
    Search GeneIP for patents involving HIPK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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