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 domai... See more...

Aliases for MPP1 Gene

Aliases for MPP1 Gene

  • Membrane Palmitoylated Protein 1 2 3 5
  • Membrane Protein, Palmitoylated 1, 55kDa 2 3
  • 55 KDa Erythrocyte Membrane Protein 3 4
  • Membrane Protein, Palmitoylated 1 2 4
  • DXS552E 3 4
  • EMP55 3 4
  • PEMP 2 3
  • 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 50
  • AAG12 3
  • MRG1 3
  • MPP1 5

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 Burkitt Lymphoma and Nasopharyngeal Carcinoma. Among its related pathways are MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include guanylate kinase activity. An important paralog of this gene is CASK.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPP1 Gene

Genomics for MPP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MPP1 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
GH0XJ154796 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 253.4 +19.7 19707 10.6 NCOR1 IKZF1 ZNF600 MYC ZNF592 ATF2 CEBPA ATF3 ZNF10 NFIC MPP1 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1
GH0XJ154818 Enhancer 1.1 Ensembl ENCODE dbSUPER 250.7 +0.5 489 4.4 NCOR1 IKZF1 ZNF592 BHLHE40 MNT TAF9B ZNF316 NFE2 RELA ATF1 MPP1 F8A1 TMLHE FAM3A HMGN1P37 DKC1
GH0XJ154717 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 14.9 +102.3 102293 3.2 IKZF1 NCOR1 ZNF600 MYC ZIC2 BHLHE40 TBP MNT ARNT TAF9B F8A1 GAB3 F8A2 MPP1 IKBKG EMD DNASE1L1 TEX28 lnc-CTAG2-1 MN298114-326
GH0XJ154540 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 7.9 +275.5 275461 10.1 MYC IKZF1 NCOR1 ZNF600 JUND ZNF580 ZNF592 POLR2A CEBPA ZNF10 IKBKG G6PD lnc-FAM3A-2 FAM3A DKC1 SNORA56 HCFC1 F8A1 F8A2 SNORA70
GH0XJ154723 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 13.6 +96.1 96057 3 ZNF654 BCL11A ZNF623 ZNF316 BATF ZFP37 MAFK REST MAFG ZEB2 SNORA70 HCFC1 DKC1 SNORA56 EMD F8A1 PLXNA3 SLC10A3 GAB3 F8A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPP1

Top Transcription factor binding sites by QIAGEN in the MPP1 gene promoter:
  • ATF6
  • FOXD3
  • FOXF2
  • GATA-1
  • GATA-2
  • GATA-3
  • HNF-3beta
  • NF-kappaB1
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for MPP1 Gene

Latest Assembly
chrX:154,778,684-154,821,007
(GRCh38/hg38)
Size:
42,324 bases
Orientation:
Minus strand

Previous Assembly
chrX:154,006,959-154,033,760
(GRCh37/hg19 by Entrez Gene)
Size:
26,802 bases
Orientation:
Minus strand

chrX:154,006,959-154,049,282
(GRCh37/hg19 by Ensembl)
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

Selected DME Specific Peptides for MPP1 Gene

Q00013:
  • PQWVPVSW
  • AGLIPSPELQEWR

Post-translational modifications for MPP1 Gene

Antibodies for research

  • Abcam antibodies for MPP1
  • Boster Bio Antibodies for MPP1

Domains & Families for MPP1 Gene

Gene Families for MPP1 Gene

Protein Domains for MPP1 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • PDZ/DHR/GLGF domain
  • Guanylate kinase
  • Variant SH3

Suggested Antigen Peptide Sequences for MPP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78856, highly similar to 55 kDa erythrocyte membrane protein (p55) (B4DZV5_HUMAN)
  • Membrane protein, palmitoylated 1 (EM55_HUMAN)
  • Aging-associated gene 12 (Q2TSB6_HUMAN)
  • cDNA, FLJ92600, Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), mRNA (Q5J7V5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00013

UniProtKB/Swiss-Prot:

EM55_HUMAN :
  • Belongs to the MAGUK family.
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

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).
GENATLAS Biochemistry:
erythrocyte surface protein,palmitoylated,55kDa,involved in coupling the cytoskeleton to the cell membrane (protein 4.1)

Enzyme Numbers (IUBMB) for MPP1 Gene

Phenotypes From GWAS Catalog for MPP1 Gene

Gene Ontology (GO) - Molecular Function for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 1310897
GO:0005515 protein binding 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPP1

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

Cell 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) (By similarity). Colocalizes with WHRN in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC) (By similarity). Colocalizes with NF2 in non-myelin-forming Schwann cells (PubMed:19144871). {ECO:0000250 UniProtKB:P70290, ECO:0000269 PubMed:19144871}.

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 MPP1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
nucleus 2
extracellular 1
golgi apparatus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS 1713685
GO:0016020 membrane TAS,HDA 19946888
GO:0030863 cortical cytoskeleton IEA --
GO:0032420 stereocilium IEA --
GO:0034451 centriolar satellite IDA --
genes like me logo Genes that share ontologies with MPP1: view

Pathways & Interactions for MPP1 Gene

PathCards logo

SuperPathways for MPP1 Gene

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

Pathways by source for MPP1 Gene

1 BioSystems pathway for MPP1 Gene

Gene Ontology (GO) - Biological Process for MPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1713685
GO:0046037 GMP metabolic process IEA --
GO:0046710 GDP metabolic process IEA --
GO:0090022 regulation of neutrophil chemotaxis ISS --
genes like me logo Genes that share ontologies with MPP1: view

No data available for SIGNOR curated interactions for MPP1 Gene

Drugs & Compounds for MPP1 Gene

(2) Drugs for MPP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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

mRNA/cDNA for MPP1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPP1

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

Expression for MPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MPP1 Gene



Protein tissue co-expression partners for MPP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPP1

SOURCE GeneReport for Unigene cluster for MPP1 Gene:

Hs.496984

mRNA Expression by UniProt/SwissProt for MPP1 Gene:

Q00013-EM55_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MPP1 Gene

  • Nervous system(4.8)
  • Blood(4.6)
  • Lung(4.4)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with MPP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP1 Gene

Orthologs for MPP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MPP1 29 30
  • 99.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mpp1 29 16 30
  • 89.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MPP1 29 30
  • 86.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MPP1 29 30
  • 86.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MPP1 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MPP1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MPP1 29 30
  • 80.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MPP1 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mpp1 29
  • 64.32 (n)
Str.10261 29
African clawed frog
(Xenopus laevis)
Amphibia MGC53500 29
Zebrafish
(Danio rerio)
Actinopterygii mpp1 29 30
  • 65.73 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1339 29
Species where no ortholog for MPP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MPP1: view image
Alliance of Genome Resources:
Additional Orthologs for MPP1

Paralogs for MPP1 Gene

Paralogs for MPP1 Gene

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

  • EM55_HUMAN
  • A6NFY0_HUMAN
  • A8MTH1_HUMAN
  • C9J9J4_HUMAN
  • C9JB34_HUMAN
  • F8WC84_HUMAN
  • F8WDV6_HUMAN
genes like me logo Genes that share paralogs with MPP1: view

Variants for MPP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPP1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs12395689 Benign: not provided 154,792,289(-) C/T
NM_002436.4(MPP1):c.103-4G>A
INTRON
rs143824239 Benign: not provided 154,792,207(-) C/A
NM_002436.4(MPP1):c.181G>T (p.Val61Phe)
MISSENSE
rs147273733 Likely Benign: not provided 154,792,235(-) C/T
NM_002436.4(MPP1):c.153G>A (p.Gly51=)
SYNONYMOUS
rs1603429916 Likely Benign: not provided 154,783,515(-) G/A
NM_002436.4(MPP1):c.866-8C>T
INTRON
rs368500350 Likely Benign: not provided 154,792,132(-) G/A
NM_002436.4(MPP1):c.246+10C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MPP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3575057 CNV loss 25503493
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)

Additional Variant Information for MPP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP1
Leiden Open Variation Database (LOVD)
MPP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP1 Gene

Disorders for MPP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MPP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
burkitt lymphoma
  • bl
nasopharyngeal carcinoma
  • npca
ehrlichiosis
  • human ehrlichiosis
rett syndrome
  • rtt
- elite association - COSMIC cancer census association via MalaCards
Search MPP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. (PMID: 19144871) Seo PS … Chishti AH (Experimental biology and medicine (Maywood, N.J.) 2009) 3 4 22
  2. The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene. (PMID: 1301163) Metzenberg AB … Gitschier J (Human molecular genetics 1992) 3 4 22
  3. Molecular identification of a major palmitoylated erythrocyte membrane protein containing the src homology 3 motif. (PMID: 1713685) Ruff P … Husain-Chishti A (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4
  4. 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 PS … Chishti AH (Biochimica et biophysica acta 2009) 3 22
  5. MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PMID: 17584769) Gosens I … Roepman R (Human molecular genetics 2007) 3 4

Products for MPP1 Gene

Sources for MPP1 Gene