Human Gene MPP7 (ENST00000375719.7) from GENCODE V44
  Description: Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact. (from UniProt Q5T2T1)
RefSeq Summary (NM_173496): The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].
Gencode Transcript: ENST00000375719.7
Gencode Gene: ENSG00000150054.19
Transcript (Including UTRs)
   Position: hg38 chr10:28,054,061-28,282,089 Size: 228,029 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr10:28,054,065-28,238,604 Size: 184,540 Coding Exon Count: 16 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:28,054,061-28,282,089)mRNA (may differ from genome)Protein (576 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMGIneXtProtPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MPP7_HUMAN
DESCRIPTION: RecName: Full=MAGUK p55 subfamily member 7;
FUNCTION: Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact.
SUBUNIT: Heterodimer; able to heterodimerize via its C-terminal L27 domain with LIN7A, LIN7B and LIN7C. Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C). Interacts with DLG1 via its N-terminal L27 domain. Interacts with MPP5 and INADL/PATJ.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cell junction, tight junction. Cell junction, adherens junction.
INDUCTION: Down-regulated in patients suffering of passive Heymann nephritis (at protein level).
SIMILARITY: Belongs to the MAGUK family.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 2 L27 domains.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=CAI12709.1; Type=Erroneous gene model prediction; Sequence=CAI13640.1; Type=Erroneous gene model prediction; Sequence=CAI17344.1; Type=Erroneous gene model prediction;

-  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: MPP7
Diseases sorted by gene-association score: retinitis pigmentosa 24 (10)

-  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: 10.98 RPKM in Esophagus - Mucosa
Total median expression: 163.39 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 -103.90355-0.293 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
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR020590 - Guanylate_kinase_CS
IPR004172 - L27
IPR014775 - L27_C
IPR001478 - PDZ
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00625 - Guanylate kinase
PF02828 - L27 domain
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF07653 - Variant SH3 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3LRA - X-ray 3O46 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q5T2T1
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 BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0032947 protein complex scaffold
GO:0035591 signaling adaptor activity
GO:0045296 cadherin binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0009967 positive regulation of signal transduction
GO:0030010 establishment of cell polarity
GO:0031334 positive regulation of protein complex assembly
GO:0070830 bicellular tight junction assembly
GO:0071896 protein localization to adherens junction

Cellular Component:
GO:0005654 nucleoplasm
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0030054 cell junction
GO:0097025 MPP7-DLG1-LIN7 complex


-  Descriptions from all associated GenBank mRNAs
  AL832380 - Homo sapiens mRNA; cDNA DKFZp451L157 (from clone DKFZp451L157).
BC038105 - Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7), mRNA (cDNA clone MGC:33230 IMAGE:5269151), complete cds.
AK057360 - Homo sapiens cDNA FLJ32798 fis, clone TESTI2002498, highly similar to Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.
AK315046 - Homo sapiens cDNA, FLJ95993.
KJ900208 - Synthetic construct Homo sapiens clone ccsbBroadEn_09602 MPP7 gene, encodes complete protein.
AB587499 - Synthetic construct DNA, clone: pF1KB9268, Homo sapiens MPP7 gene for membrane protein, palmitoylated 7, without stop codon, in Flexi system.
AK301592 - Homo sapiens cDNA FLJ50264 complete cds, highly similar to Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.
AK130972 - Homo sapiens cDNA FLJ27462 fis, clone TST06214.
JD111217 - Sequence 92241 from Patent EP1572962.
JD323319 - Sequence 304343 from Patent EP1572962.
JD404539 - Sequence 385563 from Patent EP1572962.
JD453522 - Sequence 434546 from Patent EP1572962.
JD233811 - Sequence 214835 from Patent EP1572962.
JD113044 - Sequence 94068 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCC9, B5MDZ3, BC038105, D3DRW3, ENST00000375719.1, ENST00000375719.2, ENST00000375719.3, ENST00000375719.4, ENST00000375719.5, ENST00000375719.6, MPP7_HUMAN, Q5T2T0, Q5T2T1, Q8IY28, uc001iua.1, uc001iua.2
UCSC ID: ENST00000375719.7
RefSeq Accession: NM_173496
Protein: Q5T2T1 (aka MPP7_HUMAN)
CCDS: CCDS7158.1

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