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Aliases for MPP5 Gene

Aliases for MPP5 Gene

  • Membrane Palmitoylated Protein 5 2 3 5
  • Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5) 2 3
  • Protein Associated With Lin-7 1 2 3
  • Stardust 2 3
  • Protein Associated With Lin Seven 1 3
  • Membrane Protein, Palmitoylated 5 2
  • MAGUK P55 Subfamily Member 5 3
  • PALS1 3

External Ids for MPP5 Gene

Previous GeneCards Identifiers for MPP5 Gene

  • GC14P065264
  • GC14P061501
  • GC14P065698
  • GC14P066777
  • GC14P067708
  • GC14P047877

Summaries for MPP5 Gene

Entrez Gene Summary for MPP5 Gene

  • This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for MPP5 Gene

MPP5 (Membrane Palmitoylated Protein 5) is a Protein Coding gene. Diseases associated with MPP5 include Amyotrophic Lateral Sclerosis 7 and Amyotrophic Lateral Sclerosis 9. Among its related pathways are Cell junction organization and Hippo signaling pathway. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot for MPP5 Gene

  • May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity).

Gene Wiki entry for MPP5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP5 Gene

Genomics for MPP5 Gene

Regulatory Elements for MPP5 Gene

Enhancers for MPP5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G067268 1 Ensembl ENCODE 12.3 +28.7 28746 3.6 CTCF PKNOX1 MAX ZNF384 CHD7 RFX5 ZNF316 ZNF600 PRDM10 FOS ATP6V1D PLEK2 MPP5 EIF2S1 GPHN GC14M067260 GC14M067261 GC14P067341
GH14G067216 0.7 ENCODE dbSUPER 12.2 -22.9 -22944 2.6 ZFHX2 EGR2 ATP6V1D MPP5 GPHN ENSG00000258988
GH14G068189 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.8 +951.8 951793 5.9 HNRNPUL1 PKNOX1 FOXA2 ARID4B FEZF1 YY1 TCF12 FOS NFYC PPARG MPP5 LOC105370546 RN7SL108P
GH14G067284 0.5 FANTOM5 11.4 +43.6 43592 0.3 CEBPB ZNF384 CEBPG ATP6V1D MPP5 RDH12 PLEKHH1 PIGH GC14M067260 GC14M067261 GC14P067341
GH14G067439 0.7 ENCODE 7.2 +199.7 199655 2.0 ESRRA NFIB ZNF384 BMI1 RAD21 CTBP1 GATA3 RCOR1 RFX1 ZNF687 PLEKHH1 PLEK2 MPP5 ATP6V1D MIR5694
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPP5 on UCSC Golden Path with GeneCards custom track

Promoters for MPP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069867 591 2601 HNRNPUL1 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 FOS

Genomic Location for MPP5 Gene

Chromosome:
14
Start:
67,241,109 bp from pter
End:
67,336,061 bp from pter
Size:
94,953 bases
Orientation:
Plus strand

Genomic View for MPP5 Gene

Genes around MPP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP5 Gene

Proteins for MPP5 Gene

  • Protein details for MPP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3R9-MPP5_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 5
    Protein Accession:
    Q8N3R9
    Secondary Accessions:
    • A1L380
    • Q7Z631
    • Q86T98
    • Q8N7I5
    • Q9H9Q0

    Protein attributes for MPP5 Gene

    Size:
    675 amino acids
    Molecular mass:
    77294 Da
    Quaternary structure:
    • Interacts with CRB3, LIN7C and MPDZ. Interacts with PATJ, PARD6B, SC6A1 and EZR (By similarity). Forms a complex with CRB1 and MPP4. Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, PATJ and PARD3/PAR3. Heterodimer with MPP1. Interacts with MPP7.
    SequenceCaution:
    • Sequence=AAH53366.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB14172.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MPP5 Gene

    Alternative splice isoforms for MPP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPP5 Gene

Post-translational modifications for MPP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MPP5 Gene

Domains & Families for MPP5 Gene

Suggested Antigen Peptide Sequences for MPP5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N3R9

UniProtKB/Swiss-Prot:

MPP5_HUMAN :
  • The L27 domain 1 functions in targeting to the tight junctions by binding to PATJ.
  • Belongs to the MAGUK family.
Domain:
  • The L27 domain 1 functions in targeting to the tight junctions by binding to PATJ.
  • The PDZ domain binds to the C-terminus of SC6A1.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP5: view

Function for MPP5 Gene

Molecular function for MPP5 Gene

UniProtKB/Swiss-Prot Function:
May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity).

Gene Ontology (GO) - Molecular Function for MPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11927608
GO:0019904 protein domain specific binding IPI 17332497
genes like me logo Genes that share ontologies with MPP5: view
genes like me logo Genes that share phenotypes with MPP5: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MPP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPP5 Gene

Localization for MPP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP5 Gene

Cell membrane; Peripheral membrane protein. Endomembrane system; Peripheral membrane protein. Cell junction, tight junction. Note=Localized to the tight junctions of epithelial cells and a subset of intracellular vesicles. In the retina, detected at the outer limiting membrane (OLM), apical to the adherens junction (AJ), where it colocalizes with CRB1. Colocalizes with MPP1 in the retina at the outer limiting membrane (OLM). Localized to the Purkinje cell body and axon.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPP5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MPP5: view

Pathways & Interactions for MPP5 Gene

genes like me logo Genes that share pathways with MPP5: view

Pathways by source for MPP5 Gene

Gene Ontology (GO) - Biological Process for MPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002011 morphogenesis of an epithelial sheet IMP 23201090
GO:0007009 plasma membrane organization IEA --
GO:0032287 peripheral nervous system myelin maintenance IEA --
GO:0032288 myelin assembly IEA --
GO:0035750 protein localization to myelin sheath abaxonal region IEA --
genes like me logo Genes that share ontologies with MPP5: view

No data available for SIGNOR curated interactions for MPP5 Gene

Drugs & Compounds for MPP5 Gene

No Compound Related Data Available

Transcripts for MPP5 Gene

Unigene Clusters for MPP5 Gene

Membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MPP5

Alternative Splicing Database (ASD) splice patterns (SP) for MPP5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for MPP5 Gene

GeneLoc Exon Structure for
MPP5
ECgene alternative splicing isoforms for
MPP5

Expression for MPP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MPP5 Gene

This gene is overexpressed in Breast (48.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPP5 Gene



Protein tissue co-expression partners for MPP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPP5 Gene:

MPP5

SOURCE GeneReport for Unigene cluster for MPP5 Gene:

Hs.652312

mRNA Expression by UniProt/SwissProt for MPP5 Gene:

Q8N3R9-MPP5_HUMAN
Tissue specificity: Expressed in the retina (at protein level).

Evidence on tissue expression from TISSUES for MPP5 Gene

  • Nervous system(4.6)
  • Eye(4.4)
  • Liver(4.2)
  • Muscle(4.2)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with MPP5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP5 Gene

Orthologs for MPP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPP5 34 35
  • 99.95 (n)
dog
(Canis familiaris)
Mammalia MPP5 35 34
  • 94.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MPP5 35 34
  • 94.52 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPP5 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpp5 16 35 34
  • 91.51 (n)
rat
(Rattus norvegicus)
Mammalia Mpp5 34
  • 90.57 (n)
oppossum
(Monodelphis domestica)
Mammalia MPP5 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP5 35 34
  • 82.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPP5 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp5 34
  • 76.05 (n)
Str.4693 34
zebrafish
(Danio rerio)
Actinopterygii mpp5a 34 35
  • 68.21 (n)
mpp5b 35
  • 55 (a)
OneToMany
nok 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5684 34
fruit fly
(Drosophila melanogaster)
Insecta sdt 36 34 35
  • 55.96 (n)
skf 36
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002711 34
  • 52.09 (n)
worm
(Caenorhabditis elegans)
Secernentea C01B7.4 36
  • 41 (a)
magu-2 35
  • 32 (a)
OneToOne
Species where no ortholog for MPP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MPP5 Gene

ENSEMBL:
Gene Tree for MPP5 (if available)
TreeFam:
Gene Tree for MPP5 (if available)

Paralogs for MPP5 Gene

Paralogs for MPP5 Gene

(11) SIMAP similar genes for MPP5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MPP5: view

Variants for MPP5 Gene

Sequence variations from dbSNP and Humsavar for MPP5 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000001299 -- 67,283,740(+) TTAGA(A/G)TATAT intron-variant
rs1000022562 -- 67,314,113(+) GAAGA(C/T)TTTAA intron-variant
rs1000046530 -- 67,288,561(+) TCTAG(C/T)CCCCA intron-variant
rs1000091502 -- 67,258,863(+) TTGAG(A/T)TGGAG intron-variant
rs1000114470 -- 67,263,036(+) CAGTT(C/G)AAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPP5 Gene

Variant ID Type Subtype PubMed ID
esv2439123 CNV deletion 19546169
esv2663835 CNV deletion 23128226
esv2751285 CNV gain 17911159
esv3581256 CNV loss 25503493
esv3634801 CNV loss 21293372
nsv456331 CNV gain 19166990
nsv470651 CNV gain 18288195
nsv564961 CNV gain 21841781
nsv832821 CNV gain 17160897
nsv84764 CNV deletion 16902084
nsv958770 CNV deletion 24416366

Variation tolerance for MPP5 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP5 Gene

Disorders for MPP5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MPP5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 7
  • amyotrophic lateral sclerosis type 7
amyotrophic lateral sclerosis 9
  • amyotrophic lateral sclerosis type 9
leber congenital amaurosis 8
  • lca8
kabuki syndrome 1
  • kabuki syndrome
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search MPP5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MPP5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPP5
genes like me logo Genes that share disorders with MPP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP5 Gene

Publications for MPP5 Gene

  1. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PMID: 15914641) Kantardzhieva A. … Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005) 3 4 22 64
  2. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PMID: 11927608) Roh M.H. … Margolis B. (J. Cell Biol. 2002) 2 3 22 64
  3. The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. (PMID: 17332497) Stucke V.M. … Hall A. (Mol. Biol. Cell 2007) 3 4 64
  4. MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PMID: 17584769) Gosens I. … Roepman R. (Hum. Mol. Genet. 2007) 3 4 64
  5. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PMID: 16678097) Wells C.D. … Pawson T. (Cell 2006) 3 4 64

Products for MPP5 Gene

  • Addgene plasmids for MPP5

Sources for MPP5 Gene

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