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Aliases for MPP5 Gene

Aliases for MPP5 Gene

  • Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5) 2 3
  • Stardust 2 3
  • Protein Associated With Lin Seven 1 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 Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 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 Hippo signaling pathway and Cell junction organization. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is MPP6.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP5 Gene

Genomics for MPP5 Gene

Regulatory Elements for MPP5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 INADL, 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, INADL/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

Proteomics data for MPP5 Gene at MOPED

Post-translational modifications for MPP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPP5 Gene

Antibody Products

No data available for DME Specific Peptides for MPP5 Gene

Domains & Families for MPP5 Gene

Gene 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 INADL.
  • Belongs to the MAGUK family.
Domain:
  • The L27 domain 1 functions in targeting to the tight junctions by binding to INADL.
  • The PDZ domain binds to the C-terminus of SC6A1.
  • Contains 1 guanylate kinase-like domain.
  • Contains 2 L27 domains.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 SH3 domain.
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPP5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for MPP5 Gene COMPARTMENTS Subcellular localization image for MPP5 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for MPP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA --
GO:0012505 endomembrane system 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0032287 peripheral nervous system myelin maintenance IEA --
GO:0032288 myelin assembly IEA --
GO:0034329 cell junction assembly TAS --
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPP5

Flow Cytometry Products

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 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, MOPED, and MaxQB for MPP5 Gene



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).
genes like me logo Genes that share expression patterns with MPP5: view

Protein tissue co-expression partners for MPP5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia MPP5 35
  • 94.52 (n)
  • 98.22 (a)
MPP5 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPP5 35
  • 94.91 (n)
  • 98.22 (a)
MPP5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpp5 35
  • 91.51 (n)
  • 96.74 (a)
Mpp5 16
Mpp5 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MPP5 35
  • 99.95 (n)
  • 100 (a)
MPP5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpp5 35
  • 90.57 (n)
  • 96.89 (a)
oppossum
(Monodelphis domestica)
Mammalia MPP5 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPP5 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP5 35
  • 82.67 (n)
  • 91.7 (a)
MPP5 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPP5 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp5 35
  • 76.05 (n)
  • 87.41 (a)
Str.4693 35
zebrafish
(Danio rerio)
Actinopterygii mpp5a 35
  • 68.21 (n)
  • 77.05 (a)
nok 35
mpp5a 36
  • 74 (a)
OneToMany
mpp5b 36
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5684 35
fruit fly
(Drosophila melanogaster)
Insecta sdt 37
  • 50 (a)
skf 37
  • 39 (a)
sdt 35
  • 55.96 (n)
  • 60.43 (a)
sdt 36
  • 16 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002711 35
  • 52.09 (n)
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea C01B7.4 37
  • 41 (a)
magu-2 36
  • 32 (a)
OneToOne
Species with no ortholog for MPP5:
  • 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 MAF
rs1073604 -- 67,246,505(-) aaaat(C/T)ggcct intron-variant
rs1073605 -- 67,246,340(-) TAcag(C/T)ctggg intron-variant
rs1073606 -- 67,246,281(-) agtgc(A/G)gtggc intron-variant
rs1073607 -- 67,245,967(-) acaaa(C/T)aagtg intron-variant
rs1078193 -- 67,240,905(+) TTTTT(A/T)AAAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1953n71 CNV Loss 21882294
esv2751285 CNV Gain 17911159
nsv832821 CNV Gain 17160897
esv2663835 CNV Deletion 23128226
nsv456331 CNV Gain 19166990
nsv470651 CNV Gain 18288195
nsv902065 CNV Gain 21882294
nsv84764 CNV Loss 16902084
esv2439123 CNV Deletion 19546169

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

HapMap Linkage Disequilibrium report
MPP5

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

Disorders for MPP5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MPP5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 7
  • amyotrophic lateral sclerosis type 7
amyotrophic lateral sclerosis 9
  • amyotrophic lateral sclerosis type 9
amyotrophic lateral sclerosis type 6
  • amyotrophic lateral sclerosis 6, with
leber congenital amaurosis
  • leber's amaurosis
- elite association
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. 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 23 67
  2. Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells. (PMID: 16885194) van Rossum A.G. … Wijnholds J. (Hum. Mol. Genet. 2006) 23 67
  3. MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane. (PMID: 16519681) Kantardzhieva A. … Wijnholds J. (FEBS J. 2006) 23 67
  4. Gene expression profiles in Finnish twins with multiple sclerosis. (PMID: 16504146) SAorkijAorvi S. … Elovaara I. (BMC Med. Genet. 2006) 23 67
  5. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PMID: 15914641) Kantardzhieva A. … Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005) 23 67

Products for MPP5 Gene

Sources for MPP5 Gene

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