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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
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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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