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Aliases for MPP6 Gene

Aliases for MPP6 Gene

  • Membrane Palmitoylated Protein 6 2 3 5
  • Membrane Protein, Palmitoylated 6 (MAGUK P55 Subfamily Member 6) 2 3
  • VAM-1 3 4
  • VAM1 3 4
  • Membrane Protein, Palmitoylated 6 2
  • Protein Associated With Lin7 2 3
  • MAGUK P55 Subfamily Member 6 3
  • VELI-Associated MAGUK 1 3
  • Veli-Associated MAGUK 1 4
  • MAGUK Protein P55T 3
  • PALS2 3
  • P55T 3

External Ids for MPP6 Gene

Previous GeneCards Identifiers for MPP6 Gene

  • GC07P024255
  • GC07P024355
  • GC07P024386
  • GC07P024579
  • GC07P024544

Summaries for MPP6 Gene

Entrez Gene Summary for MPP6 Gene

  • Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]

GeneCards Summary for MPP6 Gene

MPP6 (Membrane Palmitoylated Protein 6) is a Protein Coding gene. Diseases associated with MPP6 include Retinitis Pigmentosa 24. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include PDZ domain binding. An important paralog of this gene is MPP2.

Gene Wiki entry for MPP6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP6 Gene

Genomics for MPP6 Gene

Regulatory Elements for MPP6 Gene

Enhancers for MPP6 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
GH07G024668 1 Ensembl ENCODE 36.4 +96.5 96539 2.6 JUN ZNF175 RAD21 YY1 ZNF316 GATA2 HNF4G FOS NFE2 MAFK MPP6 RNU6-1103P DFNA5 ENSG00000271330 SUMO2P14
GH07G024732 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +160.2 160225 2.1 SAP130 MAFG BACH1 NR3C1 TGIF2 ZNF316 MAFF MBD1 ZNF26 NFE2L1 MPP6 DFNA5 PIR41431
GH07G024476 1.2 Ensembl ENCODE 20.9 -95.4 -95410 1.9 ELF3 PKNOX1 FOXA2 ARID4B DMAP1 RAD21 THRB RARA GATA4 FOS MPP6 RNU6-1103P GC07P024499 NPY
GH07G024753 1.6 FANTOM5 ENCODE dbSUPER 14.8 +183.0 182975 4.7 HDGF PKNOX1 FOXA2 ARNT SIN3A DMAP1 YY1 FOS SP3 JUNB DFNA5 MPP6 C7orf31 PIR41431
GH07G024715 1 ENCODE 22.8 +143.2 143161 1.8 HDGF FOXA2 PKNOX1 FOS SP3 JUNB REST TBX21 KAT8 ETV4 MPP6 DFNA5 PIR41431
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPP6 on UCSC Golden Path with GeneCards custom track

Promoters for MPP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209574 632 2601 TBP PKNOX1 SIN3A NFXL1 GLIS2 EGR1 FOS RELB EGR2 ZNF263

Genomic Location for MPP6 Gene

Chromosome:
7
Start:
24,573,268 bp from pter
End:
24,694,193 bp from pter
Size:
120,926 bases
Orientation:
Plus strand

Genomic View for MPP6 Gene

Genes around MPP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP6 Gene

Proteins for MPP6 Gene

  • Protein details for MPP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZW5-MPP6_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 6
    Protein Accession:
    Q9NZW5
    Secondary Accessions:
    • A4D157
    • Q9H0E1

    Protein attributes for MPP6 Gene

    Size:
    540 amino acids
    Molecular mass:
    61117 Da
    Quaternary structure:
    • Interacts with CADM1 (By similarity). Interacts with the LIN7 proteins.

neXtProt entry for MPP6 Gene

Post-translational modifications for MPP6 Gene

  • Ubiquitination at Lys195, Lys403, Lys515, and Lys519
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MPP6 Gene

Domains & Families for MPP6 Gene

Suggested Antigen Peptide Sequences for MPP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZW5

UniProtKB/Swiss-Prot:

MPP6_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP6: view

Function for MPP6 Gene

Gene Ontology (GO) - Molecular Function for MPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11311936
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with MPP6: view
genes like me logo Genes that share phenotypes with MPP6: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MPP6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPP6 Gene

Localization for MPP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP6 Gene

Membrane; Peripheral membrane protein.

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 MPP6 gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane NAS 11311936
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with MPP6: view

Pathways & Interactions for MPP6 Gene

genes like me logo Genes that share pathways with MPP6: view

Pathways by source for MPP6 Gene

Gene Ontology (GO) - Biological Process for MPP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 11311936
genes like me logo Genes that share ontologies with MPP6: view

No data available for SIGNOR curated interactions for MPP6 Gene

Drugs & Compounds for MPP6 Gene

No Compound Related Data Available

Transcripts for MPP6 Gene

Unigene Clusters for MPP6 Gene

Membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MPP6

Alternative Splicing Database (ASD) splice patterns (SP) for MPP6 Gene

No ASD Table

Relevant External Links for MPP6 Gene

GeneLoc Exon Structure for
MPP6
ECgene alternative splicing isoforms for
MPP6

Expression for MPP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPP6 Gene

This gene is overexpressed in Testis (x4.9).

Protein differential expression in normal tissues from HIPED for MPP6 Gene

This gene is overexpressed in Breast (47.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPP6 Gene



NURSA nuclear receptor signaling pathways regulating expression of MPP6 Gene:

MPP6

SOURCE GeneReport for Unigene cluster for MPP6 Gene:

Hs.533355

mRNA Expression by UniProt/SwissProt for MPP6 Gene:

Q9NZW5-MPP6_HUMAN
Tissue specificity: Abundant in testis, brain, and kidney with lower levels detectable in other tissues.

Evidence on tissue expression from TISSUES for MPP6 Gene

  • Eye(4.2)
  • Nervous system(2.3)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with MPP6: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP6 Gene

Orthologs for MPP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPP6 35 34
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MPP6 35 34
  • 94.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MPP6 34 35
  • 94.01 (n)
mouse
(Mus musculus)
Mammalia Mpp6 35 16 34
  • 90.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpp6 34
  • 90.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPP6 35
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPP6 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP6 35 34
  • 84.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPP6 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp6 34
  • 77.61 (n)
Str.17662 34
zebrafish
(Danio rerio)
Actinopterygii mpp6b 35
  • 75 (a)
OneToMany
mpp6a 34 35
  • 69.58 (n)
zgc55662 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008321 34
  • 53.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta vari 35 34
  • 48.22 (n)
OneToMany
CG9326 36
  • 39 (a)
skf 36
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55B1BR.4 36
  • 29 (a)
Species where no ortholog for MPP6 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 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 MPP6 Gene

ENSEMBL:
Gene Tree for MPP6 (if available)
TreeFam:
Gene Tree for MPP6 (if available)

Paralogs for MPP6 Gene

Paralogs for MPP6 Gene

genes like me logo Genes that share paralogs with MPP6: view

Variants for MPP6 Gene

Sequence variations from dbSNP and Humsavar for MPP6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000013694 -- 24,633,222(+) TGAAT(A/G)TCTTT intron-variant
rs1000029014 -- 24,648,673(+) GGCCG(A/C)GGTGG intron-variant
rs1000040235 -- 24,664,580(+) AATTA(C/T)AGATC intron-variant
rs1000060351 -- 24,594,113(+) CCTTA(C/G)ACTTT intron-variant
rs1000064769 -- 24,612,589(+) TAAAT(A/G)TCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPP6 Gene

Variant ID Type Subtype PubMed ID
esv1546433 CNV deletion 17803354
esv2168364 CNV deletion 18987734
esv2434979 CNV deletion 19546169
esv2734136 CNV deletion 23290073
esv3541349 CNV deletion 23714750
esv4910 CNV loss 18987735
esv8712 CNV loss 19470904
esv996504 CNV deletion 20482838
esv998133 CNV deletion 20482838
nsv1074079 CNV deletion 25765185
nsv1119111 CNV deletion 24896259
nsv518495 CNV loss 19592680
nsv520276 CNV gain 19592680
nsv526721 CNV loss 19592680
nsv527599 CNV gain 19592680
nsv7393 OTHER inversion 18451855

Variation tolerance for MPP6 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPP6 Gene

Human Gene Mutation Database (HGMD)
MPP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP6 Gene

Disorders for MPP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPP6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards
Search MPP6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MPP6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPP6
genes like me logo Genes that share disorders with MPP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP6 Gene

Publications for MPP6 Gene

  1. VAM-1: a new member of the MAGUK family binds to human Veli-1 through a conserved domain. (PMID: 11311936) Tseng T.-C. … Chishti A.H. (Biochim. Biophys. Acta 2001) 2 3 4 22 64
  2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64

Products for MPP6 Gene

  • Addgene plasmids for MPP6

Sources for MPP6 Gene

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