MPP7 Gene (Protein Coding)

Membrane Palmitoylated Protein 7

GC10M028057
GIFtS:
38
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 g... See more...

Aliases for MPP7 Gene

Aliases for MPP7 Gene

  • Membrane Palmitoylated Protein 7 2 3 5
  • Membrane Protein, Palmitoylated 7 (MAGUK P55 Subfamily Member 7) 2 3
  • MAGUK P55 Subfamily Member 7 3 4
  • Membrane Protein, Palmitoylated 7 2

External Ids for MPP7 Gene

Previous GeneCards Identifiers for MPP7 Gene

  • GC10M028346
  • GC10M028382

Summaries for MPP7 Gene

Entrez Gene Summary for MPP7 Gene

  • 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]

GeneCards Summary for MPP7 Gene

MPP7 (Membrane Palmitoylated Protein 7) is a Protein Coding gene. Diseases associated with MPP7 include Retinitis Pigmentosa 24. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and protein-containing complex scaffold activity. An important paralog of this gene is MPP3.

UniProtKB/Swiss-Prot Summary for MPP7 Gene

  • 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.

Additional gene information for MPP7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPP7 Gene

Genomics for MPP7 Gene

GeneHancer (GH) Regulatory Elements for MPP7 Gene

Promoters and enhancers for MPP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J028330 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 764.5 +1.3 1282 6 ZNF362 HLF NCOA3 MLLT1 CREM RELA IKZF1 PKNOX1 CREB1 ZBTB8A MPP7 RF00017-626 WAC LOC105376467
GH10J028364 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas 24.5 -32.8 -32835 5.2 ZNF24 ETV6 HLF ELF3 SP1 CEBPG PPARG HNF1A KAT8 IKZF1 MPP7 MKX MKX-AS1 WAC ZNF101P1 piR-52079-026
GH10J028253 Enhancer 0.9 ENCODE dbSUPER 18.3 +80.1 80148 2.2 ZNF785 ZNF280D SP7 PRDM1 ZIC2 PKNOX1 PRDM10 ZNF639 ZEB2 ZNF629 MPP7 piR-39858-051 lnc-ARMC4-3
GH10J028301 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 9.3 +31.7 31685 3.2 SP1 CTCF ZBTB6 RBPJ POLR2A FOS MIXL1 ZNF362 CC2D1A NFYC MPP7-DT MPP7 MIR8086
GH10J028241 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.2 +91.6 91585 2.6 CTCF CREB1 HLF RAD21 SP7 ZNF384 REST TRIM22 CBFB RUNX3 MPP7 MKX MKX-AS1 lnc-ARMC4-3 piR-39858-051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPP7 gene promoter:
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HNF-1
  • HNF-1A
  • HOXA3
  • RORalpha1
  • RORalpha2
  • YY1

Genomic Locations for MPP7 Gene

Genomic Locations for MPP7 Gene
chr10:28,050,993-28,334,486
(GRCh38/hg38)
Size:
283,494 bases
Orientation:
Minus strand
chr10:28,339,922-28,623,415
(GRCh37/hg19)
Size:
283,494 bases
Orientation:
Minus strand

Genomic View for MPP7 Gene

Genes around MPP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MPP7 Gene

Proteins for MPP7 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MPP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T2T1-MPP7_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 7
    Protein Accession:
    Q5T2T1
    Secondary Accessions:
    • B2RCC9
    • B4DWL9
    • B5MDZ3
    • D3DRW3
    • Q5T2T0
    • Q8IY28

    Protein attributes for MPP7 Gene

    Size:
    576 amino acids
    Molecular mass:
    65524 Da
    Quaternary structure:
    • 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 PATJ.

    Three dimensional structures from OCA and Proteopedia for MPP7 Gene

    Alternative splice isoforms for MPP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPP7 Gene

Protein Expression for MPP7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MPP7 Gene

  • Ubiquitination at Lys387 and Lys433
  • Modification sites at PhosphoSitePlus

Other Protein References for MPP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MPP7 Gene

Domains & Families for MPP7 Gene

Gene Families for MPP7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MPP7 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MPP7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50264, highly similar to Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA (B4DWL9_HUMAN)
  • MAGUK p55 subfamily member 7 (MPP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T2T1

UniProtKB/Swiss-Prot:

MPP7_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP7: view

Function for MPP7 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for MPP7 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated in patients suffering of passive Heymann nephritis (at protein level).

Phenotypes From GWAS Catalog for MPP7 Gene

Gene Ontology (GO) - Molecular Function for MPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17237226
GO:0019904 protein domain specific binding IPI 17332497
GO:0035591 signaling adaptor activity TAS 20702775
GO:0045296 cadherin binding HDA 25468996
GO:0046982 protein heterodimerization activity IDA 17237226
genes like me logo Genes that share ontologies with MPP7: view
genes like me logo Genes that share phenotypes with MPP7: view

Animal Model Products

CRISPR Products

miRNA for MPP7 Gene

miRTarBase miRNAs that target MPP7

Clone Products

  • Addgene plasmids for MPP7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPP7 Gene

Localization for MPP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP7 Gene

Membrane; Peripheral membrane protein. Cell junction, tight junction. Cell junction, adherens junction.

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 MPP7 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005912 adherens junction IDA 17237226
GO:0005923 bicellular tight junction IDA 17332497
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA,IDA --
genes like me logo Genes that share ontologies with MPP7: view

Pathways & Interactions for MPP7 Gene

PathCards logo

SuperPathways for MPP7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009967 positive regulation of signal transduction IEA --
GO:0030010 establishment of cell polarity TAS 17332497
GO:0031334 positive regulation of protein complex assembly TAS 14719143
GO:0070830 bicellular tight junction assembly IDA 17332497
GO:0071896 protein localization to adherens junction IMP 17237226
genes like me logo Genes that share ontologies with MPP7: view

No data available for Pathways by source and SIGNOR curated interactions for MPP7 Gene

Drugs & Compounds for MPP7 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MPP7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MPP7 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MPP7

Alternative Splicing Database (ASD) splice patterns (SP) for MPP7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:

ExUns: 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for MPP7 Gene

GeneLoc Exon Structure for
MPP7
ECgene alternative splicing isoforms for
MPP7

Expression for MPP7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP7 Gene

mRNA expression in normal human tissues for MPP7 Gene
mRNA expression by GTEx for MPP7 GenemRNA expression by BioGPS for MPP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MPP7 Gene

This gene is overexpressed in Placenta (22.5) and Retina (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPP7 Gene



NURSA nuclear receptor signaling pathways regulating expression of MPP7 Gene:

MPP7

SOURCE GeneReport for Unigene cluster for MPP7 Gene:

Hs.499159

Evidence on tissue expression from TISSUES for MPP7 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MPP7: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP7 Gene

Orthologs for MPP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MPP7 33 32
  • 99.71 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MPP7 33
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MPP7 33 32
  • 92.65 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MPP7 33 32
  • 91.2 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MPP7 33
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mpp7 17 33 32
  • 87.91 (n)
rat
(Rattus norvegicus)
 Mammalia Mpp7 32
  • 87.91 (n)
chicken
(Gallus gallus)
 Aves MPP7 33 32
  • 84.49 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MPP7 33
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mpp7 32
  • 79.22 (n)
zebrafish
(Danio rerio)
 Actinopterygii mpp7 33 32
  • 69.56 (n)
 OneToOne
hmp 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010230 32
  • 52.4 (n)
fruit fly
(Drosophila melanogaster)
 Insecta metro 33 32
  • 50.45 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea magu-1 33 32
  • 47.7 (n)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 38 (a)
 OneToMany
Species where no ortholog for MPP7 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 MPP7 Gene

ENSEMBL:
Gene Tree for MPP7 (if available)
TreeFam:
Gene Tree for MPP7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPP7: view image

Paralogs for MPP7 Gene

Paralogs for MPP7 Gene

(13) SIMAP similar genes for MPP7 Gene using alignment to 4 proteins:

  • MPP7_HUMAN
  • B4DWL9_HUMAN
  • S4R337_HUMAN
  • U5GXS2_HUMAN
genes like me logo Genes that share paralogs with MPP7: view

Variants for MPP7 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MPP7 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000032385 -- 28,177,170(-) C/A intron_variant
rs1000036270 -- 28,304,669(-) T/A upstream_transcript_variant
rs1000049454 -- 28,292,849(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000070933 -- 28,066,208(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000090645 -- 28,164,593(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MPP7 Gene

Variant ID Type Subtype PubMed ID
dgv5n64 CNV loss 17921354
dgv697n100 CNV loss 25217958
esv2421445 CNV deletion 20811451
esv25465 CNV loss 19812545
esv25872 CNV loss 19812545
esv2661194 CNV deletion 23128226
esv2669951 CNV deletion 23128226
esv2672420 CNV deletion 23128226
esv2673478 CNV deletion 23128226
esv2734606 CNV deletion 23290073
esv2734772 CNV deletion 23290073
esv2734783 CNV deletion 23290073
esv2734794 CNV deletion 23290073
esv2760125 CNV loss 21179565
esv28176 CNV loss 19812545
esv3546073 CNV deletion 23714750
esv3622739 CNV loss 21293372
esv3622740 CNV loss 21293372
esv3622741 CNV loss 21293372
esv3622742 CNV loss 21293372
esv3891779 CNV loss 25118596
nsv1039546 CNV loss 25217958
nsv1040916 CNV gain 25217958
nsv1052182 CNV gain 25217958
nsv437663 CNV loss 16327808
nsv438167 CNV loss 16468122
nsv442175 CNV loss 18776908
nsv466856 CNV loss 19166990
nsv470929 CNV loss 18288195
nsv476654 CNV novel sequence insertion 20440878
nsv498723 CNV loss 21111241
nsv514550 CNV loss 21397061
nsv515548 CNV loss 19592680
nsv520842 CNV loss 19592680
nsv521428 CNV loss 19592680
nsv521787 CNV loss 19592680
nsv525448 CNV loss 19592680
nsv550284 CNV loss 21841781
nsv550285 CNV loss 21841781
nsv6188 CNV deletion 18451855
nsv6199 CNV deletion 18451855
nsv818754 CNV loss 17921354
nsv820072 CNV loss 19587683
nsv831815 CNV loss 17160897
nsv831816 CNV gain 17160897
nsv831817 CNV loss 17160897

Variation tolerance for MPP7 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPP7 Gene

Human Gene Mutation Database (HGMD)
MPP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP7 Gene

Disorders for MPP7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPP7 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards
Search MPP7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPP7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP7 Gene

Publications for MPP7 Gene

  1. Identification and characterization of human MPP7 gene and mouse Mpp7 gene in silico. (PMID: 14719143) Katoh M … Katoh M (International journal of molecular medicine 2004) 2 3 4 23 56
  2. Genome-wide association study of Alzheimer's disease with psychotic symptoms. (PMID: 22005930) Hollingworth P … Williams J (Molecular psychiatry 2012) 3 43 56
  3. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 43 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Structural basis for tandem L27 domain-mediated polymerization. (PMID: 20702775) Yang X … Shen Y (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 4 56

ExternalLinks

View latest publications for MPP7 gene in Mastermind

Products for MPP7 Gene

  • Addgene plasmids for MPP7

Sources for MPP7 Gene