Human Gene MPDZ (ENST00000319217.12_12) from GENCODE V47lift37
  Description: multiple PDZ domain crumbs cell polarity complex component, transcript variant 18 (from RefSeq NM_001378778.1)
Gencode Transcript: ENST00000319217.12_12
Gencode Gene: ENSG00000107186.17_16
Transcript (Including UTRs)
   Position: hg19 chr9:13,105,706-13,279,691 Size: 173,986 Total Exon Count: 47 Strand: -
Coding Region
   Position: hg19 chr9:13,106,964-13,250,314 Size: 143,351 Coding Exon Count: 46 

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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 (chr9:13,105,706-13,279,691)mRNA (may differ from genome)Protein (2070 aa)
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-  Comments and Description Text from UniProtKB
  ID: MPDZ_HUMAN
DESCRIPTION: RecName: Full=Multiple PDZ domain protein; AltName: Full=Multi-PDZ domain protein 1;
FUNCTION: Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.
SUBUNIT: Interacts with CLDN5, DLG4, GRIN1, F11R/JAM, CLDN1, NG2, CRB1, MPP4 and MPP5 (By similarity). Interacts with HTR2A, HTR2B, HTR2C, PLEKHA1/TAPP1, PLEKHA2/TAPP2, CXADR, SYNGAP1, CAMK2A and CAMK2B. Interacts with the adenovirus type 9 E4-ORF1 protein.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Apical cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Cell junction, tight junction. Cell junction, synapse. Cell junction, synapse, synaptosome. Note=Associated with membranes. Colocalizes with HTR2C on the apical membrane of epithelial choroid plexus cells. Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of epithelial cells. Association to the tight junctions depends on CXADR.
TISSUE SPECIFICITY: Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.
DOMAIN: The PDZ domain 1 binds NG2. The PDZ domains 7 and 10 bind the Ad9 E4-ORF1 oncoprotein. The PDZ domain 9 binds F11R. The PDZ domain 10 binds the C-terminus of CLDN1 and KIT and the C-terminal PDZ-binding motif of HTR2C. The PDZ domain 13 binds CXADR (By similarity). The PDZ domain 2 binds CAMK2A and CAMK2B. The PDZ domains 10 and 13 bind PLEKHA1 and PLEKHA2. The PDZ domain 13 binds SYNGAP1.
SIMILARITY: Contains 1 L27 domain.
SIMILARITY: Contains 13 PDZ (DHR) domains.
SEQUENCE CAUTION: Sequence=AAC61870.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC05409.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE06123.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH71900.1; Type=Erroneous gene model prediction; Sequence=CAI40490.1; Type=Erroneous gene model prediction; Sequence=CAI40491.1; Type=Erroneous gene model prediction; Sequence=CAI40492.1; Type=Erroneous gene model prediction; Sequence=CAI40494.1; Type=Erroneous gene model prediction; Sequence=CAI40495.1; Type=Erroneous gene model prediction; Sequence=CAI41236.1; Type=Erroneous gene model prediction; Sequence=CAI41237.1; Type=Erroneous gene model prediction; Sequence=CAI41238.1; Type=Erroneous gene model prediction; Sequence=CAI41240.1; Type=Erroneous gene model prediction; Sequence=CAI56786.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

-  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: MPDZ
Diseases sorted by gene-association score: hydrocephalus, nonsyndromic, autosomal recessive 2* (900), nonsyndromic hydrocephalus, mpdz-related* (500), congenital communicating hydrocephalus* (350), hydrocephalus (9), congenital hydrocephalus (8), leber congenital amaurosis (1)
* = Manually curated disease association

-  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: 16.73 RPKM in Artery - Tibial
Total median expression: 438.34 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
5' UTR -151.70350-0.433 Picture PostScript Text
3' UTR -265.801258-0.211 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
IPR004172 - L27
IPR015132 - L27_2
IPR001478 - PDZ

Pfam Domains:
PF00595 - PDZ domain
PF09045 - L27_2
PF16667 - Unstructured region 10 on multiple PDZ protein
PF17820 - PDZ domain

SCOP Domains:
101288 - L27 domain
88659 - Sigma3 and sigma4 domains of RNA polymerase sigma factors
88697 - PUA domain-like
50156 - PDZ domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2FCF - X-ray MuPIT 2FNE - X-ray MuPIT 2IWN - X-ray MuPIT 2IWO - X-ray MuPIT 2IWP - X-ray MuPIT 2IWQ - X-ray MuPIT 2O2T - X-ray MuPIT 2OPG - X-ray MuPIT 2QG1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75970
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding

Biological Process:
GO:0007155 cell adhesion
GO:0016032 viral process

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043220 Schmidt-Lanterman incisure
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK058011 - Homo sapiens cDNA FLJ25282 fis, clone STM06685, highly similar to Rattus norvegicus mRNA for multi PDZ domain protein.
AK098775 - Homo sapiens cDNA FLJ25909 fis, clone CBR04667, highly similar to Homo sapiens multi PDZ domain protein MUPP1 (MUPP1) mRNA.
AB210041 - Homo sapiens mRNA for MPDZ variant protein, clone: pf00482.
AK074721 - Homo sapiens cDNA FLJ90240 fis, clone NT2RM2001126, highly similar to Multiple PDZ domain protein.
AK091945 - Homo sapiens cDNA FLJ34626 fis, clone KIDNE2015433, highly similar to Multiple PDZ domain protein.
AX747271 - Sequence 796 from Patent EP1308459.
CR936648 - Homo sapiens mRNA; cDNA DKFZp781P216 (from clone DKFZp781P216).
AK307988 - Homo sapiens cDNA, FLJ97936.
AJ001319 - Homo sapiens mRNA for multi PDZ domain protein.
AF093419 - Homo sapiens multi PDZ domain protein MUPP1 (MUPP1) mRNA, complete cds.
AK294976 - Homo sapiens cDNA FLJ54707 complete cds, highly similar to Multiple PDZ domain protein.
BC140793 - Homo sapiens multiple PDZ domain protein, mRNA (cDNA clone MGC:176470 IMAGE:9021661), complete cds.
BC144564 - Homo sapiens multiple PDZ domain protein, mRNA (cDNA clone MGC:178109 IMAGE:9053092), complete cds.
AK294823 - Homo sapiens cDNA FLJ54743 complete cds, highly similar to Multiple PDZ domain protein.
AK316489 - Homo sapiens cDNA, FLJ79388 complete cds, highly similar to Multiple PDZ domain protein.
BC172387 - Synthetic construct Homo sapiens clone IMAGE:100069081, MGC:199092 multiple PDZ domain protein (MPDZ) mRNA, encodes complete protein.
AB384682 - Synthetic construct DNA, clone: pF1KB0065, Homo sapiens MPDZ gene for multiple PDZ domain protein, complete cds, without stop codon, in Flexi system.
JD310628 - Sequence 291652 from Patent EP1572962.
JD502567 - Sequence 483591 from Patent EP1572962.
JD548764 - Sequence 529788 from Patent EP1572962.
JD503483 - Sequence 484507 from Patent EP1572962.
JD126506 - Sequence 107530 from Patent EP1572962.
JD268116 - Sequence 249140 from Patent EP1572962.
AK307924 - Homo sapiens cDNA, FLJ97872.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLC2, B2RTS3, B7ZMI4, ENST00000319217.1, ENST00000319217.10, ENST00000319217.11, ENST00000319217.2, ENST00000319217.3, ENST00000319217.4, ENST00000319217.5, ENST00000319217.6, ENST00000319217.7, ENST00000319217.8, ENST00000319217.9, MPDZ_HUMAN, MUPP1, NM_001378778, O43798, O75970, Q4LE30, Q5CZ80, Q5JTX3, Q5JTX6, Q5JTX7, Q5JUC3, Q5JUC4, Q5VZ62, Q8N790, uc317qpu.1, uc317qpu.2
UCSC ID: ENST00000319217.12_12
RefSeq Accession: NM_001378778.1
Protein: O75970 (aka MPDZ_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.