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PALS2 protein associated with LIN7 2, MAGUK p55 family member [ Homo sapiens (human) ]

Gene ID: 51678, updated on 17-Sep-2021

Summary

Official Symbol
PALS2provided by HGNC
Official Full Name
protein associated with LIN7 2, MAGUK p55 family memberprovided by HGNC
Primary source
HGNC:HGNC:18167
See related
Ensembl:ENSG00000105926 MIM:606959
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
MPP6; VAM1; p55T; VAM-1
Summary
Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in gall bladder (RPKM 5.7), testis (RPKM 4.9) and 23 other tissues See more
Orthologs
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Genomic context

See PALS2 in Genome Data Viewer
Location:
7p15.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (24573353..24694193)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (24613071..24733812)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NFE2L2 motif-containing MPRA enhancer 39 Neighboring gene RNA, U6 small nuclear 1103, pseudogene Neighboring gene SUMO2 pseudogene 14 Neighboring gene gasdermin E Neighboring gene Sharpr-MPRA regulatory region 12520

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

Phenotypes

Associated conditions

Description Tests
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein PALS2; MAGUK p55 subfamily member 6
Names
MAGUK protein p55T
VELI-associated MAGUK 1
membrane palmitoylated protein 6
membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
protein associated with LIN7 2, MAGUK family member
protein associated with Lin7 2

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.

mRNA and Protein(s)

  1. NM_001303037.2NP_001289966.1  protein PALS2

    See identical proteins and their annotated locations for NP_001289966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC003093, AC005084, AF162130, BM685172
    Consensus CDS
    CCDS5388.1
    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Related
    ENSP00000222644.4, ENST00000222644.10
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  2. NM_016447.4NP_057531.2  protein PALS2

    See identical proteins and their annotated locations for NP_057531.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC003093, AC005084, AF162130, AL136836, BG766138, BM685172
    Consensus CDS
    CCDS5388.1
    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Related
    ENSP00000379737.2, ENST00000396475.6
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    24573353..24694193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515425.2XP_011513727.1  MAGUK p55 subfamily member 6 isoform X1

    See identical proteins and their annotated locations for XP_011513727.1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  2. XM_006715738.3XP_006715801.1  MAGUK p55 subfamily member 6 isoform X1

    See identical proteins and their annotated locations for XP_006715801.1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  3. XM_017012316.2XP_016867805.1  MAGUK p55 subfamily member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  4. XM_017012317.1XP_016867806.1  MAGUK p55 subfamily member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  5. XM_017012315.1XP_016867804.1  MAGUK p55 subfamily member 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  6. XM_006715739.3XP_006715802.1  MAGUK p55 subfamily member 6 isoform X1

    See identical proteins and their annotated locations for XP_006715802.1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  7. XM_006715740.3XP_006715803.1  MAGUK p55 subfamily member 6 isoform X1

    See identical proteins and their annotated locations for XP_006715803.1

    UniProtKB/Swiss-Prot
    Q9NZW5
    UniProtKB/TrEMBL
    A0A024RA25
    Conserved Domains (5) summary
    smart00569
    Location:255
    L27; domain in receptor targeting proteins Lin-2 and Lin-7
    cd12038
    Location:219279
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:133206
    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:337527
    Guanylate_kin; Guanylate kinase
    pfam02828
    Location:57108
    L27; L27 domain
  8. XM_005249775.5XP_005249832.1  MAGUK p55 subfamily member 6 isoform X2

    See identical proteins and their annotated locations for XP_005249832.1

    UniProtKB/TrEMBL
    B8ZZG1
    Related
    ENSP00000386262.1, ENST00000409761.5
    Conserved Domains (3) summary
    cd12038
    Location:107167
    SH3_MPP6; Src Homology 3 domain of Membrane Protein, Palmitoylated 6 (or MAGUK p55 subfamily member 6)
    cd00992
    Location:2194
    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:225415
    Guanylate_kin; Guanylate kinase
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