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Aliases for MPP3 Gene

Aliases for MPP3 Gene

  • Membrane Palmitoylated Protein 3 2 3 5
  • Membrane Protein, Palmitoylated 3 (MAGUK P55 Subfamily Member 3) 2 3
  • Membrane Protein Palmitoylated 3 2 3
  • MAGUK P55 Subfamily Member 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 Allan-Herndon-Dudley Syndrome. 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
GH17I043832 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 562.7 +0.1 113 1.4 PKNOX1 SIN3A GLI4 ZNF2 GLIS2 ZNF213 ZNF302 KLF7 ZNF263 SP3 MPP3 ENSG00000267160 ENSG00000267405 PIR46069
GH17I043834 Enhancer 0.5 ENCODE 550.8 -1.2 -1159 0.1 NFIC NFIA NFIB HLF CEBPB TRIM28 SETDB1 MPP3 CD300LG
GH17I043878 Enhancer 1.1 Ensembl ENCODE 11.7 -45.5 -45542 1.1 HDGF RB1 KLF17 SIN3A ZNF2 ZNF48 RAD21 ZEB1 ZNF335 GLIS2 GC17P043880 MPP2 CD300LG MPP3 NAGS PYY ENSG00000221044
GH17I043839 Enhancer 1 Ensembl ENCODE 10.5 -7.0 -6967 1.6 NFIB RAD21 YY1 ZNF335 ZNF366 SCRT2 RCOR1 ZNF391 ELK4 SMARCC1 CFAP97D1 DUSP3 MPP2 MPP3 MEOX1 CD300LG
GH17I043773 Enhancer 1 Ensembl ENCODE 10.1 +60.1 60096 1.6 ELF3 FOXA2 ZSCAN9 YY1 CREM THAP11 RXRA ELF1 REST PPARG GC17M043734 MEOX1 MPP3 DUSP3 SOST
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPP3 gene promoter:

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)

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

No Post-translational modifications

No data available for DME Specific Peptides for MPP3 Gene

Domains & Families for MPP3 Gene

Gene Families for MPP3 Gene

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:0004385 guanylate kinase activity TAS 8824795
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

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
plasma membrane 5
cytosol 4
nucleus 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8824795
genes like me logo Genes that share ontologies with MPP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MPP3 Gene

Pathways & Interactions for MPP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 8824795
GO:0046037 GMP metabolic process IEA --
GO:0046710 GDP metabolic process IEA --
genes like me logo Genes that share ontologies with MPP3: view

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

Unigene Clusters for MPP3 Gene

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

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia MPP3 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPP3 33 34
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Mpp3 33 16 34
  • 87.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MPP3 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpp3 33
  • 86.38 (n)
chicken
(Gallus gallus)
Aves MPP3 33 34
  • 72.71 (n)
lizard
(Anolis carolinensis)
Reptilia MPP3 34
  • 77 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii MPP3 (1 of 2) 34
  • 70 (a)
OneToMany
MPP3 (2 of 2) 34
  • 69 (a)
OneToMany
LOC572079 33
  • 67.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta skf 35
  • 38 (a)
metro 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55B1BR.4 35
  • 30 (a)
magu-1 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for MPP3 Gene

Paralogs for MPP3 Gene

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

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

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

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
allan-herndon-dudley syndrome
  • ahds
- 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Dynamic regulation of a cell adhesion protein complex including CADM1 by combinatorial analysis of FRAP with exponential curve-fitting. (PMID: 25780926) Sakurai-Yageta M … Murakami Y (PloS one 2015) 3 58

Products for MPP3 Gene

Sources for MPP3 Gene

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