Human Gene MPP1 (ENST00000369534.8_8) from GENCODE V47lift37
  Description: MAGUK p55 scaffold protein 1, transcript variant 1 (from RefSeq NM_002436.4)
Gencode Transcript: ENST00000369534.8_8
Gencode Gene: ENSG00000130830.15_12
Transcript (Including UTRs)
   Position: hg19 chrX:154,006,959-154,033,760 Size: 26,802 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chrX:154,007,452-154,033,648 Size: 26,197 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chrX:154,006,959-154,033,760)mRNA (may differ from genome)Protein (466 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EM55_HUMAN
DESCRIPTION: RecName: Full=55 kDa erythrocyte membrane protein; Short=p55; AltName: Full=Membrane protein, palmitoylated 1;
FUNCTION: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).
SUBUNIT: Heterodimer with MPP5. Interacts with DLG5 and NF2. Interacts (via guanylate kinase-like domain) with WHRN (via third PDZ domain).
INTERACTION: Q96CV9:OPTN; NbExp=2; IntAct=EBI-711788, EBI-748974;
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell projection, stereocilium (By similarity). Note=Colocalizes with WHRN at stereocilium tip during hair cell development (By similarity). Colocalizes with MPP5 in the retina, at the outer limiting membrane (OLM). Colocalizes with WHRN in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). Colocalizes with NF2 in non- myelin-forming Schwann cells.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Extensively palmitoylated by ZDHHC17, palmitoylation is essential for membrane organization and is crucial for proper erythrocytes morphology.
SIMILARITY: Belongs to the MAGUK family.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
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: MPP1
Diseases sorted by gene-association score: nasopharyngeal carcinoma (4)

-  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: 94.40 RPKM in Whole Blood
Total median expression: 714.14 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 -28.90112-0.258 Picture PostScript Text
3' UTR -118.90493-0.241 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
IPR001478 - PDZ
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00595 - PDZ domain
PF00625 - Guanylate kinase
PF07653 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
50156 - PDZ domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EJY - NMR MuPIT 2EV8 - NMR MuPIT 3NEY - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q00013
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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:0004385 guanylate kinase activity
GO:0005515 protein binding

Biological Process:
GO:0007165 signal transduction
GO:0046037 GMP metabolic process
GO:0046710 GDP metabolic process
GO:0090022 regulation of neutrophil chemotaxis

Cellular Component:
GO:0005622 intracellular
GO:0005829 cytosol
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0030863 cortical cytoskeleton
GO:0032420 stereocilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC002392 - Homo sapiens membrane protein, palmitoylated 1, 55kDa, mRNA (cDNA clone MGC:8397 IMAGE:2820598), complete cds.
AK093702 - Homo sapiens cDNA FLJ36383 fis, clone THYMU2008686, highly similar to 55 KDA ERYTHROCYTE MEMBRANE PROTEIN.
AK304538 - Homo sapiens cDNA FLJ54048 complete cds, highly similar to 55 kDa erythrocyte membrane protein (p55).
M64925 - Human palmitoylated erythrocyte membrane protein (MPP1) mRNA, complete cds.
AK315957 - Homo sapiens cDNA, FLJ78856 complete cds, highly similar to 55 kDa erythrocyte membrane protein (p55).
AK303111 - Homo sapiens cDNA FLJ58820 complete cds, highly similar to 55 kDa erythrocyte membrane protein (p55).
AK223396 - Homo sapiens mRNA for palmitoylated membrane protein 1 variant, clone: FCC107D11.
AK290246 - Homo sapiens cDNA FLJ78470 complete cds, highly similar to Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), mRNA.
AY634686 - Homo sapiens aging-associated gene 12 (AAG12) mRNA, complete cds, alternatively spliced.
AY423731 - Homo sapiens migration-related gene 1 protein mRNA, complete cds, alternatively spliced.
AK312296 - Homo sapiens cDNA, FLJ92600, Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), mRNA.
DQ891247 - Synthetic construct clone IMAGE:100003877; FLH176516.01X; RZPDo839E03122D membrane protein, palmitoylated 1, 55kDa (MPP1) gene, encodes complete protein.
KJ891638 - Synthetic construct Homo sapiens clone ccsbBroadEn_01032 MPP1 gene, encodes complete protein.
KJ905229 - Synthetic construct Homo sapiens clone ccsbBroadEn_14700 MPP1 gene, encodes complete protein.
DQ894572 - Synthetic construct Homo sapiens clone IMAGE:100009032; FLH176512.01L; RZPDo839E03121D membrane protein, palmitoylated 1, 55kDa (MPP1) gene, encodes complete protein.
AB463113 - Synthetic construct DNA, clone: pF1KB5311, Homo sapiens MPP1 gene for membrane protein, palmitoylated 1, 55kDa, without stop codon, in Flexi system.
AK311541 - Homo sapiens cDNA, FLJ18583.
JD423725 - Sequence 404749 from Patent EP1572962.
LF380970 - JP 2014500723-A/188473: Polycomb-Associated Non-Coding RNAs.
JD167703 - Sequence 148727 from Patent EP1572962.
JD429951 - Sequence 410975 from Patent EP1572962.
JD418314 - Sequence 399338 from Patent EP1572962.
JD483606 - Sequence 464630 from Patent EP1572962.
JD160607 - Sequence 141631 from Patent EP1572962.
MA616547 - JP 2018138019-A/188473: Polycomb-Associated Non-Coding RNAs.
LF380972 - JP 2014500723-A/188475: Polycomb-Associated Non-Coding RNAs.
LF380973 - JP 2014500723-A/188476: Polycomb-Associated Non-Coding RNAs.
CU677942 - Synthetic construct Homo sapiens gateway clone IMAGE:100018321 5' read MPP1 mRNA.
AK310681 - Homo sapiens cDNA, FLJ17723.
LF380976 - JP 2014500723-A/188479: Polycomb-Associated Non-Coding RNAs.
JD021671 - Sequence 2695 from Patent EP1572962.
JD035917 - Sequence 16941 from Patent EP1572962.
JD221490 - Sequence 202514 from Patent EP1572962.
MA616549 - JP 2018138019-A/188475: Polycomb-Associated Non-Coding RNAs.
MA616550 - JP 2018138019-A/188476: Polycomb-Associated Non-Coding RNAs.
MA616553 - JP 2018138019-A/188479: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DZV5, DXS552E, EM55_HUMAN, EMP55, ENST00000369534.1, ENST00000369534.2, ENST00000369534.3, ENST00000369534.4, ENST00000369534.5, ENST00000369534.6, ENST00000369534.7, G3XAI1, NM_002436, Q00013, Q2TSB6, Q5J7V5, uc318hqm.1, uc318hqm.2
UCSC ID: ENST00000369534.8_8
RefSeq Accession: NM_002436.4
Protein: Q00013 (aka EM55_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.