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MPP7 membrane palmitoylated protein 7 [ Homo sapiens (human) ]

Gene ID: 143098, updated on 10-Oct-2019

Summary

Official Symbol
MPP7provided by HGNC
Official Full Name
membrane palmitoylated protein 7provided by HGNC
Primary source
HGNC:HGNC:26542
See related
Ensembl:ENSG00000150054 MIM:610973
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

Genomic context

See MPP7 in Genome Data Viewer
Location:
10p12.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (28050993..28303066, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (28339922..28591953, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 4 Neighboring gene uncharacterized LOC112268060 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 5 Neighboring gene small nucleolar RNA, C/D box 130 Neighboring gene uncharacterized LOC105376467 Neighboring gene microRNA 8086 Neighboring gene MPP7 divergent transcript

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

NHGRI GWAS Catalog

Description
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
signaling adaptor activity NAS
Non-traceable Author Statement
more info
PubMed 
signaling adaptor activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
MPP7-DLG1-LIN7 complex IDA
Inferred from Direct Assay
more info
PubMed 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q5T2T1
    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
    Q5T2T1
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    28050993..28303066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519338.2XP_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
  2. XM_017015742.1XP_016871231.1  MAGUK p55 subfamily member 7 isoform X3

  3. XM_011519337.2XP_011517639.1  MAGUK p55 subfamily member 7 isoform X2

    See identical proteins and their annotated locations for XP_011517639.1

    UniProtKB/Swiss-Prot
    Q5T2T1
    Related
    ENSP00000364884.1, ENST00000375732.5
    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
  4. XM_017015741.1XP_016871230.1  MAGUK p55 subfamily member 7 isoform X1

  5. XM_005252369.3XP_005252426.1  MAGUK p55 subfamily member 7 isoform X6

    Conserved Domains (4) 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)
    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) ...
    pfam02828
    Location:89123
    L27; L27 domain
  6. XM_017015743.2XP_016871232.1  MAGUK p55 subfamily member 7 isoform X5

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