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Aliases for MPP3 Gene

Aliases for MPP3 Gene

  • Membrane Palmitoylated Protein 3 2 3 5
  • MAGUK P55 Subfamily Member 3 2 3 4
  • Membrane Protein, Palmitoylated 3 (MAGUK P55 Subfamily Member 3) 2 3
  • Membrane Protein Palmitoylated 3 2 3
  • DLG3 3 4
  • Discs, Large (Drosophila) Homolog 3 2
  • Membrane Protein, Palmitoylated 3 2
  • Discs, Large Homolog 3 3
  • Discs Large Homolog 3 4
  • Protein MPP3 4

External Ids for MPP3 Gene

Previous HGNC Symbols for MPP3 Gene

  • DLG3

Previous GeneCards Identifiers for MPP3 Gene

  • GC17M041620
  • GC17M044055
  • GC17M041888
  • GC17M042353
  • GC17M039233
  • GC17M037642

Summaries for MPP3 Gene

Entrez Gene Summary for MPP3 Gene

  • This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for MPP3 Gene

MPP3 (Membrane Palmitoylated Protein 3) is a Protein Coding gene. Diseases associated with MPP3 include Chromosome 3Q29 Deletion Syndrome and Late-Onset Retinal Degeneration. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and guanylate kinase activity. An important paralog of this gene is MPP7.

Additional gene information for MPP3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP3 Gene

Genomics for MPP3 Gene

GeneHancer (GH) Regulatory Elements for MPP3 Gene

Promoters and enhancers for MPP3 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
GH17J043832 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 612.6 +0.4 378 2.4 ZFX NFIB YY1 SP7 POLR2A KLF14 EGR1 GLIS2 PKNOX1 ZBTB8A MPP3 ENSG00000267405 PIR46069
GH17J043834 Enhancer 0.5 ENCODE 600.7 -1.2 -1159 0.1 NFIB CEBPB TRIM28 NFIC NFIA HLF MPP3 CD300LG
GH17J043777 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 +54.7 54668 3 SP1 ZNF652 ZFX CBFA2T2 NKRF POLR2A CSDE1 ZNF687 ZSCAN21 MAFK DUSP3 CFAP97D1 ASB16-AS1 UBTF HMGN1P29 TMUB2 DHX8 ENSG00000267340 LINC00910 NBR2
GH17J043878 Enhancer 1.1 Ensembl ENCODE 11.7 -45.6 -45596 1.3 HDGF CTCF ZSCAN21 MAFK SP7 KLF14 PRDM1 RAD21 GLIS2 IKZF1 GC17P043975 MPP2 CD300LG MPP3 NAGS PYY ENSG00000221044
GH17J043768 Enhancer 0.9 Ensembl ENCODE 12.6 +66.5 66478 5.4 CTCF AHR ZNF644 IKZF1 PKNOX1 ATF3 RAD21 TEAD1 SMC3 CEBPG MPP3 MEOX1 RNU6-1137P DUSP3 BECN1 SOST HMGN1P29 GC17M043734
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPP3 gene promoter:
  • AML1a
  • AREB6
  • Elk-1
  • IRF-2
  • Lmo2
  • Nkx2-5
  • Pax-4a
  • Pax-6

Genomic Locations for MPP3 Gene

Genomic Locations for MPP3 Gene
chr17:43,800,799-43,833,179
(GRCh38/hg38)
Size:
32,381 bases
Orientation:
Minus strand
chr17:41,878,167-41,910,547
(GRCh37/hg19)
Size:
32,381 bases
Orientation:
Minus strand

Genomic View for MPP3 Gene

Genes around MPP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP3 Gene

Proteins for MPP3 Gene

  • Protein details for MPP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13368-MPP3_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 3
    Protein Accession:
    Q13368
    Secondary Accessions:
    • B2R7N0
    • D3DX47
    • Q4GX05
    • Q6PGR3
    • Q86SV1

    Protein attributes for MPP3 Gene

    Size:
    585 amino acids
    Molecular mass:
    66152 Da
    Quaternary structure:
    • May interact with HTR2A (By similarity). Interacts (via PDZ domain) with CADM1 (via C-terminus). Interacts with HTR4 (By similarity).
    SequenceCaution:
    • Sequence=AAH47017.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MPP3 Gene

Post-translational modifications for MPP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MPP3 Gene

Domains & Families for MPP3 Gene

Gene Families for MPP3 Gene

Suggested Antigen Peptide Sequences for MPP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60341, highly similar to MAGUK p55 subfamily member 3 (B4DS20_HUMAN)
  • Membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3), isoform CRA_a (D3DX46_HUMAN)
  • Protein MPP3 (MPP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13368

UniProtKB/Swiss-Prot:

MPP3_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP3: view

Function for MPP3 Gene

Molecular function for MPP3 Gene

GENATLAS Biochemistry:
membrane protein,palmitoylated 3,66kDa,involved in coupling the cytoskeleton to the cell membrane

Phenotypes From GWAS Catalog for MPP3 Gene

Gene Ontology (GO) - Molecular Function for MPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with MPP3: view
genes like me logo Genes that share phenotypes with MPP3: view

Animal Model Products

CRISPR Products

miRNA for MPP3 Gene

miRTarBase miRNAs that target MPP3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPP3 Gene

Localization for MPP3 Gene

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 MPP3 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MPP3 Gene

Pathways & Interactions for MPP3 Gene

PathCards logo

SuperPathways for MPP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MPP3 Gene

Drugs & Compounds for MPP3 Gene

(1) Drugs for MPP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MPP3: view

Transcripts for MPP3 Gene

mRNA/cDNA for MPP3 Gene

Unigene Clusters for MPP3 Gene

Membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPP3

Alternative Splicing Database (ASD) splice patterns (SP) for MPP3 Gene

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

ExUns: 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for MPP3 Gene

GeneLoc Exon Structure for
MPP3
ECgene alternative splicing isoforms for
MPP3

Expression for MPP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPP3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.3), Brain - Cerebellum (x5.8), Heart - Atrial Appendage (x5.7), and Heart - Left Ventricle (x5.2).

Protein differential expression in normal tissues from HIPED for MPP3 Gene

This gene is overexpressed in Fetal Brain (60.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MPP3 Gene



Protein tissue co-expression partners for MPP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPP3 Gene:

MPP3

SOURCE GeneReport for Unigene cluster for MPP3 Gene:

Hs.396566

Evidence on tissue expression from TISSUES for MPP3 Gene

  • Nervous system(4.5)
  • Eye(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with MPP3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP3 Gene

Orthologs for MPP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPP3 35 34
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MPP3 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPP3 35 34
  • 89.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mpp3 17 35 34
  • 87.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MPP3 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpp3 34
  • 86.38 (n)
chicken
(Gallus gallus)
Aves MPP3 35 34
  • 72.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPP3 35
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MPP3 (1 of 2) 35
  • 70 (a)
OneToMany
MPP3 (2 of 2) 35
  • 69 (a)
OneToMany
LOC572079 34
  • 67.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta metro 35
  • 38 (a)
OneToMany
skf 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55B1BR.4 36
  • 30 (a)
magu-1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for MPP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MPP3 Gene

ENSEMBL:
Gene Tree for MPP3 (if available)
TreeFam:
Gene Tree for MPP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPP3: view image

Paralogs for MPP3 Gene

Paralogs for MPP3 Gene

(11) SIMAP similar genes for MPP3 Gene using alignment to 3 proteins:

  • MPP3_HUMAN
  • D3DX46_HUMAN
  • K7EPM7_HUMAN

Pseudogenes.org Pseudogenes for MPP3 Gene

genes like me logo Genes that share paralogs with MPP3: view

Variants for MPP3 Gene

Sequence variations from dbSNP and Humsavar for MPP3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000032890 -- 43,824,918(-) G/T intron_variant
rs1000044590 -- 43,818,049(-) G/T 3_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000155053 -- 43,833,012(-) G/A intron_variant
rs1000326283 -- 43,804,993(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000443985 -- 43,805,292(-) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MPP3 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for MPP3 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP3
Human Gene Mutation Database (HGMD)
MPP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP3 Gene

Disorders for MPP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MPP3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 3q29 deletion syndrome
  • microdeletion 3q29 syndrome
late-onset retinal degeneration
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards
Search MPP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPP3

genes like me logo Genes that share disorders with MPP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP3 Gene

Publications for MPP3 Gene

  1. Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21. (PMID: 8824795) Smith SA … Albertsen H (Genomics 1996) 2 3 4 58
  2. Association of a lung tumor suppressor TSLC1 with MPP3, a human homologue of Drosophila tumor suppressor Dlg. (PMID: 13679854) Fukuhara H … Masvuda M (Oncogene 2003) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. (PMID: 27503909) Teixeira FR … Laman H (The Biochemical journal 2016) 3 58

Products for MPP3 Gene

Sources for MPP3 Gene

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