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

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: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (28050993..28335203, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (28082156..28366353, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (28339922..28591993, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population.
Title: A common variant SNP rs1937810 in the MPP7 gene contributes to the susceptibility of breast cancer in the Chinese Han population.
MPP7 promotes the migration and invasion of breast cancer cells via EGFR/AKT signaling.
Title: MPP7 promotes the migration and invasion of breast cancer cells via EGFR/AKT signaling.
Relationship of common variants in MPP7, TIMP2 and CASP8 genes with the risk of chronic achilles tendinopathy.
Title: Relationship of common variants in MPP7, TIMP2 and CASP8 genes with the risk of chronic achilles tendinopathy.
MPP7 as a novel candidate gene for Primary open angle glaucoma.
Title: Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
The association of MPP7 single-nucleotide polymorphism rs4317882 gene variant with site-specific bone mineral density was determined.
Title: Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density.
The Dlg1-MPP7-Mals3 heterotrimer consists of 2 pairs of heterodimeric L27 domains. These 2 dimers are asymmetric due to the large difference between the N- and C-terminal tandem L27 domain of MPP7.
Title: Structural basis for tandem L27 domain-mediated polymerization.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
MPP7 is a PDZ protein that interacts with human papillomavirus-16 E6 and forms a tripartite complex with LIN7A or LIN7C and DLG1, regulating the stability and localization of DLG1 to cell junctions.
Title: The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions.
MPP7 targets to the lateral surface of epithelial cells via its L27N domain, through an interaction with Dlg1.
Title: The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H97962 (e-PCR)
- UniSTS:79387

D10S588 (e-PCR), detects polymorphism
- UniSTS:33101

SHGC-33447 (e-PCR)
- UniSTS:64129

STS-H72934 (e-PCR)
- UniSTS:20394

SHGC-81652 (e-PCR)
- UniSTS:103859

D10S588 (e-PCR), detects polymorphism
- UniSTS:10424

RH118971 (e-PCR)
- UniSTS:138939

SHGC-81705 (e-PCR)
- UniSTS:103887

RH122845 (e-PCR)
- UniSTS:135143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	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

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of cell polarity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to adherens junction	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to adherens junction	IMP Inferred from Mutant Phenotype 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

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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)

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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.

mRNA and Protein(s)

NM_001318170.2 → NP_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:16 → 68

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12033
Location:232 → 292

SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)

smart00072
Location:384 → 563

GuKc; Guanylate kinase homologues

cd00992
Location:137 → 217

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:384 → 562

Guanylate_kin; Guanylate kinase
NM_173496.5 → NP_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:16 → 68

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12033
Location:232 → 292

SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)

smart00072
Location:384 → 563

GuKc; Guanylate kinase homologues

cd00992
Location:137 → 217

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:384 → 562

Guanylate_kin; Guanylate kinase

RNA

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

28050993..28335203 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
XM_011519338.3 → XP_011517640.1 MAGUK p55 subfamily member 7 isoform X4

Conserved Domains (4) summary

cd12033
Location:107 → 167

SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)

smart00072
Location:259 → 438

GuKc; Guanylate kinase homologues

cd00992
Location:12 → 92

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:259 → 437

Guanylate_kin; Guanylate kinase
XM_047424645.1 → XP_047280601.1 MAGUK p55 subfamily member 7 isoform X2

UniProtKB/Swiss-Prot

B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
XM_047424646.1 → XP_047280602.1 MAGUK p55 subfamily member 7 isoform X2

UniProtKB/Swiss-Prot

B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28

Related

ENSP00000364884.1, ENST00000375732.5
XM_047424644.1 → XP_047280600.1 MAGUK p55 subfamily member 7 isoform X2

UniProtKB/Swiss-Prot

B2RCC9, B4DWL9, B5MDZ3, D3DRW3, Q5T2T0, Q5T2T1, Q8IY28
XM_047424649.1 → XP_047280605.1 MAGUK p55 subfamily member 7 isoform X4
XM_011519337.3 → XP_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:16 → 68

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12033
Location:232 → 292

SH3_MPP7; Src Homology 3 domain of Membrane Protein, Palmitoylated 7 (or MAGUK p55 subfamily member 7)

smart00072
Location:384 → 563

GuKc; Guanylate kinase homologues

cd00992
Location:137 → 217

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:384 → 562

Guanylate_kin; Guanylate kinase
XM_047424648.1 → XP_047280604.1 MAGUK p55 subfamily member 7 isoform X3
XM_017015741.2 → XP_016871230.1 MAGUK p55 subfamily member 7 isoform X1
XM_047424651.1 → XP_047280607.1 MAGUK p55 subfamily member 7 isoform X7
XM_047424650.1 → XP_047280606.1 MAGUK p55 subfamily member 7 isoform X6
XM_017015743.3 → XP_016871232.1 MAGUK p55 subfamily member 7 isoform X5