Human Gene MAPK8IP1 (ENST00000395629.2) from GENCODE V44
  Description: Contains 1 SH3 domain. (from UniProt E9PBB9)
RefSeq Summary (NM_005456): This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011].
Gencode Transcript: ENST00000395629.2
Gencode Gene: ENSG00000121653.11
Transcript (Including UTRs)
   Position: hg38 chr11:45,896,550-45,906,465 Size: 9,916 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr11:45,896,880-45,905,721 Size: 8,842 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:45,896,550-45,906,465)mRNA (may differ from genome)Protein (701 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PBB9_HUMAN
DESCRIPTION: SubName: Full=C-Jun-amino-terminal kinase-interacting protein 1; SubName: Full=Uncharacterized protein;
SIMILARITY: Contains 1 SH3 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: MAPK8IP1
Diseases sorted by gene-association score: diabetes mellitus, noninsulin-dependent* (722), sarcomatoid squamous cell skin carcinoma (15), fallopian tube adenocarcinoma (14), cervix small cell carcinoma (11), hemometra (9), cervical carcinosarcoma (9), ophthalmia neonatorum (8), female reproductive organ cancer (8), endocervical carcinoma (8), cervix carcinoma (8), vaginal cancer (8), radiation cystitis (7), lymphocele (7), reproductive organ cancer (6), cardiomyopathy, hypertrophic, 2 (5), low compliance bladder (5), dysgerminoma of ovary (4)
* = Manually curated disease association

-  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: 138.85 RPKM in Nerve - Tibial
Total median expression: 1608.44 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 -158.80330-0.481 Picture PostScript Text
3' UTR -336.60744-0.452 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
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom
IPR001452 - SH3_domain

Pfam Domains:
PF00640 - Phosphotyrosine interaction domain (PTB/PID)
PF00018 - SH3 domain

ModBase Predicted Comparative 3D Structure on E9PBB9
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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 BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC068470 - Homo sapiens mitogen-activated protein kinase 8 interacting protein 1, mRNA (cDNA clone MGC:87090 IMAGE:5260971), complete cds.
BC035920 - Homo sapiens cDNA clone IMAGE:5164046, containing frame-shift errors.
KJ898030 - Synthetic construct Homo sapiens clone ccsbBroadEn_07424 MAPK8IP1 gene, encodes complete protein.
AF074091 - Homo sapiens islet-brain 1 mRNA, complete cds.
AK293637 - Homo sapiens cDNA FLJ53883 complete cds, highly similar to C-jun-amino-terminal kinase-interacting protein 1.
JD205850 - Sequence 186874 from Patent EP1572962.
JD476000 - Sequence 457024 from Patent EP1572962.
JD143202 - Sequence 124226 from Patent EP1572962.
JD343743 - Sequence 324767 from Patent EP1572962.
AK295942 - Homo sapiens cDNA FLJ61291 complete cds, highly similar to C-jun-amino-terminal kinase-interactingprotein 1.
AB209720 - Homo sapiens mRNA for mitogen-activated protein kinase 8 interacting protein 1 variant protein.
AF007134 - Homo sapiens clone 23565 unknown mRNA, partial cds.
JD345370 - Sequence 326394 from Patent EP1572962.
JD143182 - Sequence 124206 from Patent EP1572962.
JD147566 - Sequence 128590 from Patent EP1572962.
JD455208 - Sequence 436232 from Patent EP1572962.
JD263907 - Sequence 244931 from Patent EP1572962.
JD128607 - Sequence 109631 from Patent EP1572962.
JD457643 - Sequence 438667 from Patent EP1572962.
JD277535 - Sequence 258559 from Patent EP1572962.
JD278768 - Sequence 259792 from Patent EP1572962.
JD259623 - Sequence 240647 from Patent EP1572962.
JD518374 - Sequence 499398 from Patent EP1572962.
JD450908 - Sequence 431932 from Patent EP1572962.
JD192186 - Sequence 173210 from Patent EP1572962.
JD547471 - Sequence 528495 from Patent EP1572962.
JD443291 - Sequence 424315 from Patent EP1572962.
JD169858 - Sequence 150882 from Patent EP1572962.
JD080933 - Sequence 61957 from Patent EP1572962.
JD165033 - Sequence 146057 from Patent EP1572962.
JD165032 - Sequence 146056 from Patent EP1572962.
JD068020 - Sequence 49044 from Patent EP1572962.
JD102608 - Sequence 83632 from Patent EP1572962.
JD445531 - Sequence 426555 from Patent EP1572962.
JD401061 - Sequence 382085 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: BC068470, E9PBB9, E9PBB9_HUMAN, ENST00000395629.1, uc010rgp.1, uc010rgp.2
UCSC ID: ENST00000395629.2
RefSeq Accession: NM_005456
Protein: E9PBB9 CCDS: CCDS7916.1

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