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Aliases for MPP1 Gene

Aliases for MPP1 Gene

  • Membrane Palmitoylated Protein 1 2 3
  • Membrane Protein, Palmitoylated 1 2 3 4 5
  • Membrane Protein, Palmitoylated 1, 55kDa 2 3
  • DXS552E 3 4
  • EMP55 3 4
  • P55 3 4
  • Palmitoylated Erythrocyte Membrane Protein 3
  • Membrane Protein, Palmitoylated 1 (55kD) 2
  • Erythrocyte Membrane Protein P55 3
  • Aging-Associated Gene 12 3
  • Migration-Related Gene 1 3
  • EC 2.7.11 63
  • AAG12 3
  • MRG1 3
  • PEMP 3

External Ids for MPP1 Gene

Previous HGNC Symbols for MPP1 Gene

  • DXS552E

Previous GeneCards Identifiers for MPP1 Gene

  • GC0XM148070
  • GC0XM150387
  • GC0XM151592
  • GC0XM152474
  • GC0XM153570
  • GC0XM153660
  • GC0XM154006
  • GC0XM142550

Summaries for MPP1 Gene

Entrez Gene Summary for MPP1 Gene

  • This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for MPP1 Gene

MPP1 (Membrane Palmitoylated Protein 1) is a Protein Coding gene. Diseases associated with MPP1 include Nasopharyngeal Carcinoma. GO annotations related to this gene include guanylate kinase activity. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for MPP1 Gene

  • Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).

Gene Wiki entry for MPP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP1 Gene

Genomics for MPP1 Gene

Regulatory Elements for MPP1 Gene

Enhancers for MPP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MPP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MPP1 Gene

Chromosome:
X
Start:
154,778,684 bp from pter
End:
154,821,007 bp from pter
Size:
42,324 bases
Orientation:
Minus strand

Genomic View for MPP1 Gene

Genes around MPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP1 Gene

Proteins for MPP1 Gene

  • Protein details for MPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00013-EM55_HUMAN
    Recommended name:
    55 kDa erythrocyte membrane protein
    Protein Accession:
    Q00013
    Secondary Accessions:
    • B4DZV5
    • G3XAI1
    • Q2TSB6
    • Q5J7V5

    Protein attributes for MPP1 Gene

    Size:
    466 amino acids
    Molecular mass:
    52296 Da
    Quaternary structure:
    • Heterodimer with MPP5. Interacts with DLG5 and NF2. Interacts (via guanylate kinase-like domain) with WHRN (via third PDZ domain).

    Three dimensional structures from OCA and Proteopedia for MPP1 Gene

    Alternative splice isoforms for MPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPP1 Gene

Proteomics data for MPP1 Gene at MOPED

Selected DME Specific Peptides for MPP1 Gene

Post-translational modifications for MPP1 Gene

  • Extensively palmitoylated by ZDHHC17, palmitoylation is essential for membrane organization and is crucial for proper erythrocytes morphology.
  • Ubiquitination at Lys 76, Lys 91, and Lys 386
  • Modification sites at PhosphoSitePlus

Domains & Families for MPP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q00013

UniProtKB/Swiss-Prot:

EM55_HUMAN :
  • Contains 1 guanylate kinase-like domain.
  • Belongs to the MAGUK family.
Domain:
  • Contains 1 guanylate kinase-like domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP1: view

Function for MPP1 Gene

Molecular function for MPP1 Gene

GENATLAS Biochemistry:
erythrocyte surface protein,palmitoylated,55kDa,involved in coupling the cytoskeleton to the cell membrane (protein 4.1)
UniProtKB/Swiss-Prot Function:
Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity).

Enzyme Numbers (IUBMB) for MPP1 Gene

Gene Ontology (GO) - Molecular Function for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 17584769
genes like me logo Genes that share ontologies with MPP1: view
genes like me logo Genes that share phenotypes with MPP1: view

Animal Models for MPP1 Gene

MGI Knock Outs for MPP1:

Animal Model Products

miRNA for MPP1 Gene

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MPP1 Gene

Localization for MPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP1 Gene

Membrane; Lipid-anchor. Cell projection, stereocilium. Note=Colocalizes with WHRN at stereocilium tip during hair cell development (By similarity). Colocalizes with MPP5 in the retina, at the outer limiting membrane (OLM). Colocalizes with WHRN in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). Colocalizes with NF2 in non-myelin-forming Schwann cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPP1 Gene COMPARTMENTS Subcellular localization image for MPP1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with MPP1: view

Pathways & Interactions for MPP1 Gene

SuperPathways for MPP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1713685
GO:0046710 GDP metabolic process TAS 1310897
genes like me logo Genes that share ontologies with MPP1: view

No data available for Pathways by source and SIGNOR curated interactions for MPP1 Gene

Drugs & Compounds for MPP1 Gene

(1) Drugs for MPP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MPP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPP1: view

Transcripts for MPP1 Gene

Unigene Clusters for MPP1 Gene

Membrane protein, palmitoylated 1, 55kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - - - -
SP5: -
SP6: - - -
SP7: - - - - - - - - - -
SP8:
SP9: - - - - - - - - - - - -
SP10: -
SP11:
SP12: - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - - - -

ExUns: 9d ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -

Relevant External Links for MPP1 Gene

GeneLoc Exon Structure for
MPP1
ECgene alternative splicing isoforms for
MPP1

Expression for MPP1 Gene

mRNA expression in normal human tissues for MPP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPP1 Gene

This gene is overexpressed in Whole Blood (x14.6).

Protein differential expression in normal tissues from HIPED for MPP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.3), Placenta (9.4), and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPP1 Gene



SOURCE GeneReport for Unigene cluster for MPP1 Gene Hs.496984

mRNA Expression by UniProt/SwissProt for MPP1 Gene

Q00013-EM55_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MPP1: view

Protein tissue co-expression partners for MPP1 Gene

Primer Products

Orthologs for MPP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MPP1 35
  • 86.91 (n)
  • 91.2 (a)
MPP1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPP1 35
  • 86.98 (n)
  • 93.99 (a)
MPP1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpp1 35
  • 89.06 (n)
  • 92.92 (a)
Mpp1 16
Mpp1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MPP1 35
  • 99.5 (n)
  • 99.79 (a)
MPP1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPP1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPP1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP1 35
  • 80.26 (n)
  • 83.48 (a)
MPP1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPP1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp1 35
  • 64.32 (n)
  • 68.35 (a)
Str.10261 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53500 35
zebrafish
(Danio rerio)
Actinopterygii mpp1 35
  • 65.73 (n)
  • 64.64 (a)
mpp1 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1339 35
Species with no ortholog for MPP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MPP1 Gene

ENSEMBL:
Gene Tree for MPP1 (if available)
TreeFam:
Gene Tree for MPP1 (if available)

Paralogs for MPP1 Gene

Paralogs for MPP1 Gene

(9) SIMAP similar genes for MPP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with MPP1: view

Variants for MPP1 Gene

Sequence variations from dbSNP and Humsavar for MPP1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs14092 - 154,779,236(-) TACAA(C/G)AAGCC reference, missense
rs14972 -- 154,779,349(-) GACAG(A/G)AGCCC reference, missense
rs1042702 -- 154,778,867(-) TCCCT(C/T)TAAAG utr-variant-3-prime
rs1125922 -- 154,788,764(+) ttctc(A/G)tattg intron-variant
rs1126762 -- 154,791,839(-) ATCAC(G/T)CTGAA intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MPP1 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354
nsv516158 CNV Gain 19592680

Variation tolerance for MPP1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.83% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MPP1 Gene

Disorders for MPP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPP1 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
nasopharyngeal carcinoma
  • malignant neoplasm of nasopharynx
- elite association - COSMIC cancer census association via MalaCards
Search MPP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MPP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPP1
genes like me logo Genes that share disorders with MPP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP1 Gene

Publications for MPP1 Gene

  1. Molecular identification of a major palmitoylated erythrocyte membrane protein containing the src homology 3 motif. (PMID: 1713685) Ruff P. … Husain-Chishti A. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 67
  2. Alternatively spliced exon 5 of the FERM domain of protein 4.1R encodes a novel binding site for erythrocyte p55 and is critical for membrane targeting in epithelial cells. (PMID: 18952129) Seo P.S. … Chishti A.H. (Biochim. Biophys. Acta 2009) 3 23
  3. Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. (PMID: 19144871) Seo P.-S. … Chishti A.H. (Exp. Biol. Med. 2009) 3 23
  4. The PDZ domain of human erythrocyte p55 mediates its binding to the cytoplasmic carboxyl terminus of glycophorin C. Analysis of the binding interface by in vitro mutagenesis. (PMID: 9305870) Marfatia S.M. … Chishti A.H. (J. Biol. Chem. 1997) 3 23
  5. Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue. (PMID: 8824805) Kim A.C. … Chishti A.H. (Genomics 1996) 3 23

Products for MPP1 Gene

Sources for MPP1 Gene

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