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    MPP4 MAGUK p55 scaffold protein 4 [ Homo sapiens (human) ]

    Gene ID: 58538, updated on 17-Jun-2024

    Summary

    Official Symbol
    MPP4provided by HGNC
    Official Full Name
    MAGUK p55 scaffold protein 4provided by HGNC
    Primary source
    HGNC:HGNC:13680
    See related
    Ensembl:ENSG00000082126 MIM:606575; AllianceGenome:HGNC:13680
    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
    DLG6; ALS2CR5
    Summary
    This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MPP4 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201644874..201698644, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202125526..202180790, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202509597..202563367, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12233 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:202427174-202427863 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene transmembrane protein 237 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202563997-202564498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202564499-202564998 Neighboring gene alsin Rho guanine nucleotide exchange factor ALS2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16994 Neighboring gene ribosomal protein S2 pseudogene 16 Neighboring gene MPRA-validated peak4013 silencer Neighboring gene UBE2V1 pseudogene 11 Neighboring gene cyclin dependent kinase 15

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in protein localization to synapse ISM
    Inferred from Sequence Model
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    MAGUK p55 subfamily member 4
    Names
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein
    discs large homolog 6
    membrane palmitoylated protein 4
    membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012654.2 RefSeqGene

      Range
      5000..58770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033066.3NP_149055.2  MAGUK p55 subfamily member 4

      Status: REVIEWED

      Source sequence(s)
      AC007279
      Consensus CDS
      CCDS46491.1
      UniProtKB/Swiss-Prot
      C9IZK4, Q53TT3, Q6ZNH6, Q96JB8, Q96Q43, Q96Q44
      UniProtKB/TrEMBL
      E7EUL8, F8WDZ0
      Related
      ENSP00000387278.3, ENST00000409474.8
      Conserved Domains (4) summary
      smart00569
      Location:90140
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12034
      Location:246306
      SH3_MPP4; Src Homology 3 domain of Membrane Protein, Palmitoylated 4 (or MAGUK p55 subfamily member 4)
      cd00992
      Location:153232
      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) ...
      cl27059
      Location:428618
      Guanylate_kin; Guanylate kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201644874..201698644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004620.2XP_016860109.1  MAGUK p55 subfamily member 4 isoform X1

      UniProtKB/TrEMBL
      A0A087WUS1, B7ZM19
      Related
      ENSP00000478875.1, ENST00000620095.4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202125526..202180790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343248.1XP_054199223.1  MAGUK p55 subfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B7ZM19