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MPP5 membrane palmitoylated protein 5 [ Homo sapiens (human) ]

Gene ID: 64398, updated on 8-May-2016
Official Symbol
MPP5provided by HGNC
Official Full Name
membrane palmitoylated protein 5provided by HGNC
Primary source
HGNC:HGNC:18669
See related
Ensembl:ENSG00000072415 HPRD:09508; MIM:606958; Vega:OTTHUMG00000171243
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PALS1
Summary
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Orthologs
Location:
14q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (67241295..67336061)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67708012..67802778)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene uncharacterized LOC105370538 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene uncharacterized LOC105370541 Neighboring gene family with sequence similarity 71 member D Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene pleckstrin 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction interactions, organism-specific biosystem (from REACTOME)
    Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelial sheet IMP
Inferred from Mutant Phenotype
more info
PubMed 
myelin assembly IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
protein localization to myelin sheath abaxonal region IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lateral loop IEA
Inferred from Electronic Annotation
more info
 
myelin sheath adaxonal region IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
MAGUK p55 subfamily member 5
Names
membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
protein associated with Lin-7 1
protein associated with lin seven 1
stardust

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_001256550.1NP_001243479.1  MAGUK p55 subfamily member 5 isoform 2

    See identical proteins and their annotated locations for NP_001243479.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI245706, AL139785, AL832578, DA095710, DR003886
    Consensus CDS
    CCDS58325.1
    UniProtKB/Swiss-Prot
    Q8N3R9
    Related
    ENSP00000451488, OTTHUMP00000245542, ENST00000555925, OTTHUMT00000412501
    Conserved Domains (7) summary
    pfam09060
    Location:89137
    L27_N; L27_N
    smart00569
    Location:155203
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12036
    Location:315377
    SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
    cd00071
    Location:447622
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:220299
    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:444625
    Guanylate_kin; Guanylate kinase
    cl00638
    Location:560592
    RNA_pol_Rpb4; RNA polymerase Rpb4
  2. NM_022474.3NP_071919.2  MAGUK p55 subfamily member 5 isoform 1

    See identical proteins and their annotated locations for NP_071919.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AI245706, AL139785, AL832578, AL832936, BC053366
    Consensus CDS
    CCDS9779.1
    UniProtKB/Swiss-Prot
    Q8N3R9
    UniProtKB/TrEMBL
    Q658X5
    Related
    ENSP00000261681, OTTHUMP00000245540, ENST00000261681, OTTHUMT00000412498
    Conserved Domains (7) summary
    pfam09060
    Location:123171
    L27_N; L27_N
    smart00569
    Location:189237
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12036
    Location:349411
    SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
    cd00071
    Location:481656
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:254333
    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:478659
    Guanylate_kin; Guanylate kinase
    cl00638
    Location:594626
    RNA_pol_Rpb4; RNA polymerase Rpb4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    67241295..67336061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537086.1XP_011535388.1  

    See identical proteins and their annotated locations for XP_011535388.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    Conserved Domains (7) summary
    pfam09060
    Location:123171
    L27_N; L27_N
    smart00569
    Location:189237
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12036
    Location:349411
    SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
    cd00071
    Location:481656
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:254333
    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:478659
    Guanylate_kin; Guanylate kinase
    cl00638
    Location:594626
    RNA_pol_Rpb4; RNA polymerase Rpb4
  2. XM_005268003.1XP_005268060.1  

    See identical proteins and their annotated locations for XP_005268060.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    Conserved Domains (7) summary
    pfam09060
    Location:89137
    L27_N; L27_N
    smart00569
    Location:155203
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12036
    Location:315377
    SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
    cd00071
    Location:447622
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:220299
    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:444625
    Guanylate_kin; Guanylate kinase
    cl00638
    Location:560592
    RNA_pol_Rpb4; RNA polymerase Rpb4
  3. XM_011537087.1XP_011535389.1  

    See identical proteins and their annotated locations for XP_011535389.1

    UniProtKB/Swiss-Prot
    Q8N3R9
    Conserved Domains (7) summary
    pfam09060
    Location:123171
    L27_N; L27_N
    smart00569
    Location:189237
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12036
    Location:349411
    SH3_MPP5; Src Homology 3 domain of Membrane Protein, Palmitoylated 5 (or MAGUK p55 subfamily member 5)
    cd00071
    Location:481656
    GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
    cd00992
    Location:254333
    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:478659
    Guanylate_kin; Guanylate kinase
    cl00638
    Location:594626
    RNA_pol_Rpb4; RNA polymerase Rpb4

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    67646631..67741468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)