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    MPP1 MAGUK p55 scaffold protein 1 [ Homo sapiens (human) ]

    Gene ID: 4354, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MPP1provided by HGNC
    Official Full Name
    MAGUK p55 scaffold protein 1provided by HGNC
    Primary source
    HGNC:HGNC:7219
    See related
    Ensembl:ENSG00000130830 MIM:305360; AllianceGenome:HGNC:7219
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRG1; PEMP; AAG12; EMP55; DXS552E
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 52.9), bone marrow (RPKM 48.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPP1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154778684..154805485, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (153015096..153041895, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154006959..154033760, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene dyskerin pseudouridine synthase 1 Neighboring gene small nucleolar RNA, H/ACA box 36A Neighboring gene microRNA 664b Neighboring gene small nucleolar RNA, H/ACA box 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21119 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30071 Neighboring gene small integral membrane protein 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Membrane rafts in the erythrocyte membrane: a novel role of MPP1p55. Sikorski AF, et al. Adv Exp Med Biol, 2015. PMID 25408337
    2. Solution structure of human erythroid p55 PDZ domain. Kusunoki H, et al. Proteins, 2006 Aug 15. PMID 16741958
    3. MPP1 directly interacts with flotillins in erythrocyte membrane - Possible mechanism of raft domain formation. Biernatowska A, et al. Biochim Biophys Acta Biomembr, 2017 Nov. PMID 28865798
    4. MPP1 interacts with DOPC/SM/Cholesterol in an artificial membrane system using Langmuir-Blodgett monolayer. Elderdfi M, et al. Gen Physiol Biophys, 2017 Oct. PMID 28653654
    5. Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue. Kim AC, et al. Genomics, 1996 Jan 15. PMID 8824805

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that targeting the ATP binding cassette subfamily C member 4 (ABCC4)-membrane palmitoylated protein 1 (MPP1) protein complex can lead to new therapies to improve treatment outcome of acute myeloid leukemia (AML).
      Title: An unexpected protein interaction promotes drug resistance in leukemia.
    2. A new perspective on the role of MPP1 in erythroid cells suggests that direct MPP1-flotillins interactions could be the major driving-force behind the formation of raft domains in red blood cells.
      Title: MPP1 directly interacts with flotillins in erythrocyte membrane - Possible mechanism of raft domain formation.
    3. conclusion, the data demonstrates that MPP1 interacts with lipid mixtures in two different model membrane systems.
      Title: MPP1 interacts with DOPC/SM/Cholesterol in an artificial membrane system using Langmuir-Blodgett monolayer.
    4. Studies indicate that palmitoylated erythrocyte membrane protein p55 (MPP1) and its palmitoylation play a crucial role in lateral membrane organization in erythroid cells.
      Title: Membrane rafts in the erythrocyte membrane: a novel role of MPP1p55.
    5. MPP1 knockdown significantly affects the activation of MAP-kinase signaling.
      Title: The role of MPP1/p55 and its palmitoylation in resting state raft organization in HEL cells.
    6. MPP1 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma.
      Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
    7. p55 binds to two distinct sites within the FERM domain, and the alternatively spliced exon 5 is necessary for the membrane targeting of protein 4.1R in epithelial cells.
      Title: 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.
    8. p55-NF2 protein interaction may play a functional role in the regulation of apico-basal polarity and tumor suppression pathways in non-erythroid cells.
      Title: Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin.
    9. MPP1 links the Usher protein network and the Crumbs protein complex in the retina
      Title: MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
    10. Results show the NMR-derived structure of the human erythroid p55 PDZ domain and propose a possible interaction mode with the C-terminus of glycophorin C.
      Title: Solution structure of human erythroid p55 PDZ domain.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    EBI GWAS Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanylate kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neutrophil chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in stereocilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    55 kDa erythrocyte membrane protein
    Names
    aging-associated gene 12
    erythrocyte membrane protein p55
    membrane palmitoylated protein 1
    membrane protein, palmitoylated 1, 55kDa
    migration-related gene 1
    p55
    palmitoylated erythrocyte membrane protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015873.1 RefSeqGene

      Range
      5043..31844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166460.2 → NP_001159932.1  55 kDa erythrocyte membrane protein isoform 2

      See identical proteins and their annotated locations for NP_001159932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK304538, BC002392
      UniProtKB/TrEMBL
      B4E325
      Conserved Domains (4) summary
      cd12080
      Location:145 → 206
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      smart00072
      Location:274 → 437
      GuKc; Guanylate kinase homologues
      pfam00595
      Location:63 → 132
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:264 → 436
      Guanylate_kin; Guanylate kinase

    2. NM_001166461.2 → NP_001159933.1  55 kDa erythrocyte membrane protein isoform 3

      See identical proteins and their annotated locations for NP_001159933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AY634686, BC002392, DA074686
      Consensus CDS
      CCDS55545.1
      UniProtKB/TrEMBL
      Q53F93
      Related
      ENSP00000377165.1, ENST00000393531.5
      Conserved Domains (3) summary
      pfam00595
      Location:71 → 149
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:261 → 433
      Guanylate_kin; Guanylate kinase
      cl17036
      Location:150 → 203
      SH3; Src Homology 3 domain superfamily

    3. NM_001166462.2 → NP_001159934.1  55 kDa erythrocyte membrane protein isoform 4

      See identical proteins and their annotated locations for NP_001159934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' coding region that results in a distinct 5' UTR and translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC002392, DA074686
      Consensus CDS
      CCDS55544.1
      UniProtKB/TrEMBL
      Q53F93
      Related
      ENSP00000400155.3, ENST00000413259.7
      Conserved Domains (3) summary
      cd12080
      Location:132 → 193
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      pfam00595
      Location:41 → 119
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:251 → 423
      Guanylate_kin; Guanylate kinase

    4. NM_002436.4 → NP_002427.1  55 kDa erythrocyte membrane protein isoform 1

      See identical proteins and their annotated locations for NP_002427.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC002392, DA074686
      Consensus CDS
      CCDS14762.1
      UniProtKB/Swiss-Prot
      B4DZV5, G3XAI1, Q00013, Q2TSB6, Q5J7V5
      UniProtKB/TrEMBL
      Q53F93
      Related
      ENSP00000358547.3, ENST00000369534.8
      Conserved Domains (3) summary
      cd12080
      Location:162 → 223
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      pfam00595
      Location:71 → 149
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:281 → 453
      Guanylate_kin; Guanylate kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154778684..154805485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452385.2 → XP_024308153.1  55 kDa erythrocyte membrane protein isoform X5

      Conserved Domains (2) summary
      cd12080
      Location:36 → 97
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      pfam00625
      Location:137 → 300
      Guanylate_kin; Guanylate kinase

    2. XM_011531169.2 → XP_011529471.1  55 kDa erythrocyte membrane protein isoform X4

      See identical proteins and their annotated locations for XP_011529471.1

      Conserved Domains (3) summary
      cd12080
      Location:36 → 97
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      smart00072
      Location:165 → 328
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:155 → 327
      Guanylate_kin; Guanylate kinase

    3. XM_011531167.2 → XP_011529469.1  55 kDa erythrocyte membrane protein isoform X1

      UniProtKB/TrEMBL
      Q53F93
      Conserved Domains (4) summary
      cd12080
      Location:162 → 223
      SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
      smart00072
      Location:264 → 427
      GuKc; Guanylate kinase homologues
      pfam00595
      Location:71 → 149
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:263 → 426
      Guanylate_kin; Guanylate kinase

    4. XM_047442124.1 → XP_047298080.1  55 kDa erythrocyte membrane protein isoform X3

    5. XM_047442123.1 → XP_047298079.1  55 kDa erythrocyte membrane protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      153015096..153041895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327104.1 → XP_054183079.1  55 kDa erythrocyte membrane protein isoform X5

    2. XM_054327103.1 → XP_054183078.1  55 kDa erythrocyte membrane protein isoform X4

    3. XM_054327100.1 → XP_054183075.1  55 kDa erythrocyte membrane protein isoform X1

    4. XM_054327102.1 → XP_054183077.1  55 kDa erythrocyte membrane protein isoform X3

    5. XM_054327101.1 → XP_054183076.1  55 kDa erythrocyte membrane protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00013.2 GenPept UniProtKB/Swiss-Prot:Q00013

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