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MPP1 membrane palmitoylated protein 1 [ Homo sapiens (human) ]

Gene ID: 4354, updated on 3-Jan-2019

Summary

Official Symbol
MPP1provided by HGNC
Official Full Name
membrane palmitoylated protein 1provided by HGNC
Primary source
HGNC:HGNC:7219
See related
Ensembl:ENSG00000130830 MIM:305360
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

Genomic context

See MPP1 in Genome Data Viewer
Location:
Xq28
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154778684..154805527, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154006959..154033802, 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 high mobility group nucleosome binding domain 1 pseudogene 37 Neighboring gene small integral membrane protein 9

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
    MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanylate kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GDP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of neutrophil chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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.

Genomic

  1. NG_015873.1 RefSeqGene

    Range
    5001..31844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166460.1NP_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, DA074686
    UniProtKB/Swiss-Prot
    Q00013
    UniProtKB/TrEMBL
    B4E325
    Conserved Domains (4) summary
    cd12080
    Location:145206
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    smart00072
    Location:274437
    GuKc; Guanylate kinase homologues
    pfam00595
    Location:63132
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:264436
    Guanylate_kin; Guanylate kinase
  2. NM_001166461.1NP_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/Swiss-Prot
    Q00013
    Related
    ENSP00000377165.1, ENST00000393531.5
    Conserved Domains (3) summary
    pfam00595
    Location:71149
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:261433
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:150203
    SH3; Src Homology 3 domain superfamily
  3. NM_001166462.1NP_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/Swiss-Prot
    Q00013
    Related
    ENSP00000400155.3, ENST00000413259.7
    Conserved Domains (3) summary
    cd12080
    Location:132193
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    pfam00595
    Location:41119
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:251423
    Guanylate_kin; Guanylate kinase
  4. NM_002436.4NP_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
    Q00013
    Related
    ENSP00000358547.3, ENST00000369534.7
    Conserved Domains (3) summary
    cd12080
    Location:162223
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    pfam00595
    Location:71149
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:281453
    Guanylate_kin; Guanylate kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154778684..154805527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    cd12080
    Location:162223
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    smart00072
    Location:264427
    GuKc; Guanylate kinase homologues
    pfam00595
    Location:71149
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:263426
    Guanylate_kin; Guanylate kinase
  2. XM_024452385.1XP_024308153.1  55 kDa erythrocyte membrane protein isoform X3

    Conserved Domains (2) summary
    cd12080
    Location:3697
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    pfam00625
    Location:137300
    Guanylate_kin; Guanylate kinase
  3. XM_011531169.1XP_011529471.1  55 kDa erythrocyte membrane protein isoform X2

    See identical proteins and their annotated locations for XP_011529471.1

    Conserved Domains (3) summary
    cd12080
    Location:3697
    SH3_MPP1; Src Homology 3 domain of Membrane Protein, Palmitoylated 1 (or MAGUK p55 subfamily member 1)
    smart00072
    Location:165328
    GuKc; Guanylate kinase homologues
    pfam00625
    Location:155327
    Guanylate_kin; Guanylate kinase
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