Format

Send to:

Choose Destination

MPP4 membrane palmitoylated protein 4 [ Homo sapiens (human) ]

Gene ID: 58538, updated on 7-Jun-2020

Summary

Official Symbol
MPP4provided by HGNC
Official Full Name
membrane palmitoylated protein 4provided by HGNC
Primary source
HGNC:HGNC:13680
See related
Ensembl:ENSG00000082126 MIM:606575
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

Genomic context

See MPP4 in Genome Data Viewer
Location:
2q33.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201644874..201700263, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202509597..202563467, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene transmembrane protein 237 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene alsin Rho guanine nucleotide exchange factor ALS2 Neighboring gene ribosomal protein S2 pseudogene 16 Neighboring gene cyclin dependent kinase 15 Neighboring gene UBE2V1 pseudogene 11

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
protein localization to synapse ISM
Inferred from Sequence Model
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
adherens junction IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
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 protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

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_012654.1 RefSeqGene

    Range
    5001..58821
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    201644874..201700263 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A087WUS1
    Related
    ENSP00000478875.1, ENST00000620095.4
Support Center