Human Gene RIPK4 (ENST00000332512.8_9) from GENCODE V47lift37
  Description: receptor interacting serine/threonine kinase 4 (from RefSeq NM_020639.3)
Gencode Transcript: ENST00000332512.8_9
Gencode Gene: ENSG00000183421.12_11
Transcript (Including UTRs)
   Position: hg19 chr21:43,159,533-43,187,212 Size: 27,680 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr21:43,160,998-43,187,201 Size: 26,204 Coding Exon Count: 8 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:43,159,533-43,187,212)mRNA (may differ from genome)Protein (784 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RIPK4_HUMAN
DESCRIPTION: RecName: Full=Receptor-interacting serine/threonine-protein kinase 4; EC=2.7.11.1; AltName: Full=Ankyrin repeat domain-containing protein 3; AltName: Full=PKC-delta-interacting protein kinase;
FUNCTION: Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
SUBUNIT: Interacts with PRKCB (By similarity). Interacts with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4.
INTERACTION: Q13490:BIRC2; NbExp=3; IntAct=EBI-4422308, EBI-514538; Q13489:BIRC3; NbExp=3; IntAct=EBI-4422308, EBI-517709; P98170:XIAP; NbExp=2; IntAct=EBI-4422308, EBI-517127;
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein (By similarity).
PTM: May be phosphorylated by MAP3K2 and MAP3K3 (By similarity).
PTM: Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-426.
PTM: Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa- B.
DISEASE: Defects in RIPK4 are the cause of popliteal pterygium syndrome, lethal type (PPS-L) [MIM:263650]. An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.
SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
SIMILARITY: Contains 10 ANK repeats.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: RIPK4
Diseases sorted by gene-association score: popliteal pterygium syndrome, bartsocas-papas type* (1300), mesenteric lymphadenitis (16), cocoon syndrome (13), popliteal pterygium syndrome 1 (12), myiasis (8), chronic cervicitis (8), synostosis (5), van der woude syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 38.56 RPKM in Esophagus - Mucosa
Total median expression: 172.11 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -531.901465-0.363 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00023 - Ankyrin repeat
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
56112 - Protein kinase-like (PK-like)
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on P57078
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-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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:0002009 morphogenesis of an epithelium
GO:0006468 protein phosphorylation
GO:0016310 phosphorylation
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AB047783 - Homo sapiens ANKRD3 mRNA for dual-specificity Ser/Thr/Tyr kinase, complete cds.
BC035755 - Homo sapiens receptor-interacting serine-threonine kinase 4, mRNA (cDNA clone IMAGE:5760485).
AJ278016 - Homo sapiens mRNA for protein kinase (dik gene).
AL137448 - Homo sapiens mRNA; cDNA DKFZp434B2328 (from clone DKFZp434B2328).
AK027424 - Homo sapiens cDNA FLJ14518 fis, clone NT2RM1000850, weakly similar to ANKYRIN R.
JD091074 - Sequence 72098 from Patent EP1572962.
JD119621 - Sequence 100645 from Patent EP1572962.
JD143906 - Sequence 124930 from Patent EP1572962.
JD182919 - Sequence 163943 from Patent EP1572962.
JD220758 - Sequence 201782 from Patent EP1572962.
JD163532 - Sequence 144556 from Patent EP1572962.
JD155701 - Sequence 136725 from Patent EP1572962.
JD494602 - Sequence 475626 from Patent EP1572962.
JD227766 - Sequence 208790 from Patent EP1572962.
JD280014 - Sequence 261038 from Patent EP1572962.
JD432740 - Sequence 413764 from Patent EP1572962.
JD315053 - Sequence 296077 from Patent EP1572962.
AF308292 - Homo sapiens serologically defined breast cancer antigen NY-BR-49 mRNA, partial cds.
JD536395 - Sequence 517419 from Patent EP1572962.
JD266754 - Sequence 247778 from Patent EP1572962.
AK296685 - Homo sapiens cDNA FLJ50981 complete cds, highly similar to Receptor-interacting serine/threonine-protein kinase 4 (EC 2.7.11.1).
JD158036 - Sequence 139060 from Patent EP1572962.
JD489888 - Sequence 470912 from Patent EP1572962.
JD448568 - Sequence 429592 from Patent EP1572962.
AK302592 - Homo sapiens cDNA FLJ51151 complete cds, highly similar to Receptor-interacting serine/threonine-protein kinase 4 (EC 2.7.11.1).
AK316412 - Homo sapiens cDNA, FLJ79311 complete cds, highly similar to Receptor-interacting serine/threonine-protein kinase 4 (EC 2.7.11.1).
JD149824 - Sequence 130848 from Patent EP1572962.
JD221403 - Sequence 202427 from Patent EP1572962.
JD053642 - Sequence 34666 from Patent EP1572962.
JD429206 - Sequence 410230 from Patent EP1572962.
BC110617 - Homo sapiens receptor-interacting serine-threonine kinase 4, mRNA (cDNA clone MGC:129992 IMAGE:40034395), complete cds.
BC110618 - Homo sapiens receptor-interacting serine-threonine kinase 4, mRNA (cDNA clone MGC:129993 IMAGE:40034396), complete cds.
JD485069 - Sequence 466093 from Patent EP1572962.
JD151054 - Sequence 132078 from Patent EP1572962.
EU832165 - Synthetic construct Homo sapiens clone HAIB:100067194; DKFZo008G0825 receptor-interacting serine-threonine kinase 4 protein (RIPK4) gene, encodes complete protein.
EU832259 - Synthetic construct Homo sapiens clone HAIB:100067288; DKFZo004G0826 receptor-interacting serine-threonine kinase 4 protein (RIPK4) gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: ANKRD3, DIK, ENST00000332512.1, ENST00000332512.2, ENST00000332512.3, ENST00000332512.4, ENST00000332512.5, ENST00000332512.6, ENST00000332512.7, NM_020639, P57078, Q96KH0, RIPK4_HUMAN, uc317tlp.1, uc317tlp.2
UCSC ID: ENST00000332512.8_9
RefSeq Accession: NM_020639.3
Protein: P57078 (aka RIPK4_HUMAN or RIK4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
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