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    MPP7 MAGUK p55 scaffold protein 7 [ Homo sapiens (human) ]

    Gene ID: 143098, updated on 3-Apr-2024

    Summary

    Official Symbol
    MPP7provided by HGNC
    Official Full Name
    MAGUK p55 scaffold protein 7provided by HGNC
    Primary source
    HGNC:HGNC:26542
    See related
    Ensembl:ENSG00000150054 MIM:610973; AllianceGenome:HGNC:26542
    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
    Summary
    The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in esophagus (RPKM 17.1), skin (RPKM 11.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MPP7 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (28050993..28335203, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (28082156..28366353, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28339922..28591993, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene outer dynein arm docking complex subunit 2 Neighboring gene uncharacterized LOC112268060 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:28283413-28284612 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:28377736-28378935 Neighboring gene small nucleolar RNA, C/D box 130 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:28408124-28409323 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:28500607-28501201 Neighboring gene Sharpr-MPRA regulatory region 10737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2249 Neighboring gene microRNA 8086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3191 Neighboring gene MPP7 divergent transcript Neighboring gene zinc finger protein 101 pseudogene 1 Neighboring gene small nucleolar RNA U3

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32798

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling adaptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables signaling adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MPP7-DLG1-LIN7 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    MAGUK p55 subfamily member 7
    Names
    membrane palmitoylated protein 7
    membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001318170.2NP_001305099.1  MAGUK p55 subfamily member 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the supported protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK301592, AK315046, AL832380, BG542434, BQ774044
      Consensus CDS
      CCDS7158.1
      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
      UniProtKB/TrEMBL
      B3KQ45
      Related
      ENSP00000507917.1, ENST00000683449.1
      Conserved Domains (5) summary
      smart00569
      Location:1668
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12033
      Location:232292
      SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)
      smart00072
      Location:384563
      GuKc; Guanylate kinase homologues
      cd00992
      Location:137217
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:384562
      Guanylate_kin; Guanylate kinase
    2. NM_173496.5NP_775767.2  MAGUK p55 subfamily member 7

      See identical proteins and their annotated locations for NP_775767.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL355501, AL832380, BC038105, BG542434, BQ774044, HY040628
      Consensus CDS
      CCDS7158.1
      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
      UniProtKB/TrEMBL
      B3KQ45
      Related
      ENSP00000364871.3, ENST00000375719.7
      Conserved Domains (5) summary
      smart00569
      Location:1668
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12033
      Location:232292
      SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)
      smart00072
      Location:384563
      GuKc; Guanylate kinase homologues
      cd00992
      Location:137217
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:384562
      Guanylate_kin; Guanylate kinase

    RNA

    1. NR_134517.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301592, AL832380, BG542434, BQ774044
      Related
      ENST00000496637.6
    2. NR_134518.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region and includes an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK301592, AL832380, BG542434, BQ774044

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      28050993..28335203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424647.1XP_047280603.1  MAGUK p55 subfamily member 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
    2. XM_011519338.3XP_011517640.1  MAGUK p55 subfamily member 7 isoform X4

      Conserved Domains (4) summary
      cd12033
      Location:107167
      SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)
      smart00072
      Location:259438
      GuKc; Guanylate kinase homologues
      cd00992
      Location:1292
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:259437
      Guanylate_kin; Guanylate kinase
    3. XM_047424645.1XP_047280601.1  MAGUK p55 subfamily member 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
    4. XM_047424646.1XP_047280602.1  MAGUK p55 subfamily member 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
      Related
      ENSP00000364884.1, ENST00000375732.5
    5. XM_047424644.1XP_047280600.1  MAGUK p55 subfamily member 7 isoform X2

      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
    6. XM_047424649.1XP_047280605.1  MAGUK p55 subfamily member 7 isoform X4

    7. XM_011519337.3XP_011517639.1  MAGUK p55 subfamily member 7 isoform X2

      See identical proteins and their annotated locations for XP_011517639.1

      UniProtKB/Swiss-Prot
      B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
      UniProtKB/TrEMBL
      B3KQ45
      Conserved Domains (5) summary
      smart00569
      Location:1668
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12033
      Location:232292
      SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)
      smart00072
      Location:384563
      GuKc; Guanylate kinase homologues
      cd00992
      Location:137217
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:384562
      Guanylate_kin; Guanylate kinase
    8. XM_047424648.1XP_047280604.1  MAGUK p55 subfamily member 7 isoform X3

    9. XM_017015741.2XP_016871230.1  MAGUK p55 subfamily member 7 isoform X1

    10. XM_047424651.1XP_047280607.1  MAGUK p55 subfamily member 7 isoform X7

    11. XM_047424650.1XP_047280606.1  MAGUK p55 subfamily member 7 isoform X6

    12. XM_017015743.3XP_016871232.1  MAGUK p55 subfamily member 7 isoform X5

    RNA

    1. XR_007061944.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      28082156..28366353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364887.1XP_054220862.1  MAGUK p55 subfamily member 7 isoform X2

    2. XM_054364889.1XP_054220864.1  MAGUK p55 subfamily member 7 isoform X4

    3. XM_054364885.1XP_054220860.1  MAGUK p55 subfamily member 7 isoform X2

    4. XM_054364886.1XP_054220861.1  MAGUK p55 subfamily member 7 isoform X2

    5. XM_054364883.1XP_054220858.1  MAGUK p55 subfamily member 7 isoform X2

    6. XM_054364890.1XP_054220865.1  MAGUK p55 subfamily member 7 isoform X4

    7. XM_054364884.1XP_054220859.1  MAGUK p55 subfamily member 7 isoform X2

    8. XM_054364888.1XP_054220863.1  MAGUK p55 subfamily member 7 isoform X3

    9. XM_054364882.1XP_054220857.1  MAGUK p55 subfamily member 7 isoform X1

    10. XM_054364893.1XP_054220868.1  MAGUK p55 subfamily member 7 isoform X7

    11. XM_054364892.1XP_054220867.1  MAGUK p55 subfamily member 7 isoform X6

    12. XM_054364891.1XP_054220866.1  MAGUK p55 subfamily member 7 isoform X5

    RNA

    1. XR_008488169.1 RNA Sequence