Human Gene MAPKAP1 (ENST00000265960.8_13) from GENCODE V47lift37
  Description: MAPK associated protein 1, transcript variant 1 (from RefSeq NM_001006617.3)
Gencode Transcript: ENST00000265960.8_13
Gencode Gene: ENSG00000119487.17_17
Transcript (Including UTRs)
   Position: hg19 chr9:128,199,673-128,469,487 Size: 269,815 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr9:128,201,166-128,434,853 Size: 233,688 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:128,199,673-128,469,487)mRNA (may differ from genome)Protein (522 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIN1_HUMAN
DESCRIPTION: RecName: Full=Target of rapamycin complex 2 subunit MAPKAP1; Short=TORC2 subunit MAPKAP1; AltName: Full=Mitogen-activated protein kinase 2-associated protein 1; AltName: Full=Stress-activated map kinase-interacting protein 1; Short=SAPK-interacting protein 1; Short=mSIN1;
FUNCTION: Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription.
SUBUNIT: Interacts with IFNAR2 (By similarity). All isoforms except isoform 4 can be incorporated into the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Contrary to mTORC1, mTORC2 does not bind to and is not sensitive to FKBP12-rapamycin. Interacts with ATF2, MAP3K2 and MAPK8. Interacts with GTP-bound HRAS and KRAS. Interacts with SGK1 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle. Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in heart and skeletal muscle.
SIMILARITY: Belongs to the SIN1 family.

-  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: MAPKAP1
Diseases sorted by gene-association score: nephrogenic systemic fibrosis (6), lung squamous cell carcinoma (3)

-  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: 27.96 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 668.77 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 -139.20307-0.453 Picture PostScript Text
3' UTR -509.401493-0.341 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
IPR008828 - SIN1

Pfam Domains:
PF05422 - Stress-activated map kinase interacting protein 1 (SIN1)
PF16978 - SAPK-interacting protein 1 (Sin1), middle CRIM domain
PF16979 - SAPK-interacting protein 1 (Sin1), Pleckstrin-homology

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3VOQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BPZ7
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 orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0017016 Ras GTPase binding
GO:0019901 protein kinase binding
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding
GO:0070300 phosphatidic acid binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0021762 substantia nigra development
GO:0030950 establishment or maintenance of actin cytoskeleton polarity
GO:0031098 stress-activated protein kinase signaling cascade
GO:0032148 activation of protein kinase B activity
GO:0038203 TORC2 signaling
GO:0046580 negative regulation of Ras protein signal transduction

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0031932 TORC2 complex


-  Descriptions from all associated GenBank mRNAs
  AY524429 - Homo sapiens SAPK-interacting protein 1 mRNA, complete cds, alternatively spliced.
AY524431 - Homo sapiens SAPK-interacting protein 1 beta isoform mRNA, complete cds, alternatively spliced.
AY524432 - Homo sapiens SAPK-interacting protein 1 gamma isoform mRNA, complete cds, alternatively spliced.
AL833042 - Homo sapiens mRNA; cDNA DKFZp666C019 (from clone DKFZp666C019).
AK295364 - Homo sapiens cDNA FLJ59624 complete cds, highly similar to Stress-activated map kinase-interacting protein 1.
BC002326 - Homo sapiens mitogen-activated protein kinase associated protein 1, mRNA (cDNA clone MGC:2745 IMAGE:2823015), complete cds.
BC003044 - Homo sapiens mitogen-activated protein kinase associated protein 1, mRNA (cDNA clone MGC:4372 IMAGE:2823015), complete cds.
AY633624 - Homo sapiens mitogen-activated protein kinase 2-associated protein 1a mRNA, complete cds.
AY633625 - Homo sapiens mitogen-activated protein kinase 2-associated protein 1b mRNA, complete cds.
AY633626 - Homo sapiens mitogen-activated protein kinase 2-associated protein 1r mRNA, complete cds.
AK298841 - Homo sapiens cDNA FLJ50615 complete cds, highly similar to Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 2, mRNA.
AK310361 - Homo sapiens cDNA, FLJ17403.
AK290060 - Homo sapiens cDNA FLJ78554 complete cds, highly similar to Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 2, mRNA.
AK316149 - Homo sapiens cDNA, FLJ79048 complete cds, highly similar to Stress-activated map kinase-interacting protein 1.
KJ904864 - Synthetic construct Homo sapiens clone ccsbBroadEn_14258 MAPKAP1-like gene, encodes complete protein.
DQ892728 - Synthetic construct clone IMAGE:100005358; FLH189161.01X; RZPDo839C0374D mitogen-activated protein kinase associated protein 1 (MAPKAP1) gene, encodes complete protein.
EU176718 - Synthetic construct Homo sapiens clone IMAGE:100011509; FLH189160.01L; RZPDo839F10255D mitogen-activated protein kinase associated protein 1 (MAPKAP1) gene, encodes complete protein.
M37191 - Human ras inhibitor mRNA, partial cds.
AK309507 - Homo sapiens cDNA, FLJ99548.
AY524430 - Homo sapiens SAPK-interacting protein 1 alpha isoform mRNA, complete cds, alternatively spliced.
BC035236 - Homo sapiens mitogen-activated protein kinase associated protein 1, mRNA (cDNA clone IMAGE:4776251), with apparent retained intron.
JD114205 - Sequence 95229 from Patent EP1572962.
JD138783 - Sequence 119807 from Patent EP1572962.
JD218124 - Sequence 199148 from Patent EP1572962.
JD471884 - Sequence 452908 from Patent EP1572962.
JD391039 - Sequence 372063 from Patent EP1572962.
JD159453 - Sequence 140477 from Patent EP1572962.
JD081143 - Sequence 62167 from Patent EP1572962.
JD186914 - Sequence 167938 from Patent EP1572962.
CU677908 - Synthetic construct Homo sapiens gateway clone IMAGE:100019626 5' read MAPKAP1 mRNA.
AY425957 - Homo sapiens stress-activated map kinase interacting protein 1 mRNA, partial cds, alternatively spliced.
JD484748 - Sequence 465772 from Patent EP1572962.
JD496820 - Sequence 477844 from Patent EP1572962.

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

Protein Q9BPZ7 (Reactome details) participates in the following event(s):

R-HSA-198640 TORC2 (mTOR) phosphorylates AKT at S473
R-HSA-2243938 AKT1 E17K mutant is phosphorylated by TORC2 complex
R-HSA-6795290 TORC2 complex phosphorylates SGK1
R-HSA-389357 CD28 dependent PI3K/Akt signaling
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-5218920 VEGFR2 mediated vascular permeability
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-6804757 Regulation of TP53 Degradation
R-HSA-389356 CD28 co-stimulation
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-6806003 Regulation of TP53 Expression and Degradation
R-HSA-388841 Costimulation by the CD28 family
R-HSA-162582 Signal Transduction
R-HSA-194138 Signaling by VEGF
R-HSA-5663202 Diseases of signal transduction
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-1280218 Adaptive Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-1643685 Disease
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-168256 Immune System
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: A8K1Z5, B1AMA4, B7Z309, ENST00000265960.1, ENST00000265960.2, ENST00000265960.3, ENST00000265960.4, ENST00000265960.5, ENST00000265960.6, ENST00000265960.7, MIP1, NM_001006617, Q00426, Q5JSV5, Q5JSV6, Q5JSV9, Q658R0, Q699U1, Q699U2, Q699U3, Q699U4, Q6GVJ0, Q6GVJ1, Q6GVJ2, Q9BPZ7, SIN1, SIN1_HUMAN, uc317ifc.1, uc317ifc.2
UCSC ID: ENST00000265960.8_13
RefSeq Accession: NM_001006617.3
Protein: Q9BPZ7 (aka SIN1_HUMAN)

-  Gene Model Information
  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.