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    DLGAP4 DLG associated protein 4 [ Homo sapiens (human) ]

    Gene ID: 22839, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DLGAP4provided by HGNC
    Official Full Name
    DLG associated protein 4provided by HGNC
    Primary source
    HGNC:HGNC:24476
    See related
    Ensembl:ENSG00000080845 MIM:616191; AllianceGenome:HGNC:24476
    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
    DAP4; DLP4; DAP-4; SAPAP4; SAPAP-4
    Summary
    The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 12.5), endometrium (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DLGAP4 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36306339..36528633)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38027049..38252509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34894261..35157036)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 like 1 Neighboring gene uncharacterized LOC105372602 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 Neighboring gene AAR2 splicing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959277-34959938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34959939-34960600 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:34960601-34961262 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961263-34961922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34961923-34962584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34964801-34965786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34966822-34967482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34968805-34969464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34969762-34970692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34978479-34978979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34980118-34980829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:34996041-34996689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35060233-35060734 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35069878-35070075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35082739-35083539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35089423-35090213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35090214-35091004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35093338-35094263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35092411-35093337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35100944-35101844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35125835-35126334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17808 Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35170723-35171376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35171377-35172030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172031-35172684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172685-35173338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35175959-35176887 Neighboring gene NANOG hESC enhancer GRCh37_chr20:35191013-35191578 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:35199946-35200498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12875 Neighboring gene TGIF2-RAB5IF readthrough Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35213881-35214870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35217734-35218362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35219932-35220810 Neighboring gene myosin light chain 9 Neighboring gene TGFB induced factor homeobox 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression.
      Title: CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression.
    2. CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p.
      Title: CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p.
    3. DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression.
      Title: DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression.
    4. Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-kappaB/MMP-2 axis.
      Title: Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-κB/MMP-2 axis.
    5. Significant epigenetic remodelling of the DLGAP4 locus triggered by the t(8;20)(p12;q11.23) translocation and leading to dysregulation of DLGAP4 expression in affected carriers is reported.
      Title: Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
    6. Shows that an homologous rat protein can interact with nArgBP2, a novel neural member of the ponsin/ArgB/vinexin family.
      Title: nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP).
    7. Includes the identification and characterization of an homologous protein in rat.
      Title: SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of discs, large (Drosophila) homolog-associated protein 4 (DLGAP4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20588, KIAA0964, MGC131862

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synapse maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    disks large-associated protein 4
    Names
    PSD-95/SAP90-binding protein 4
    SAP90/PSD-95-associated protein 4
    discs large homolog associated protein 4

    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_001042486.4 → NP_001035951.1  disks large-associated protein 4 isoform c

      See identical proteins and their annotated locations for NP_001035951.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 5' exons but contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AI984397, AK001681, AL050318, BC153874
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Related
      ENSP00000477723.1, ENST00000475894.5
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    2. NM_001365621.2 → NP_001352550.1  disks large-associated protein 4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374, AL445705, AL512784
      Consensus CDS
      CCDS93034.1
      UniProtKB/Swiss-Prot
      E1P5T5, Q5QPG4, Q5T2Y4, Q5T2Y5, Q9H137, Q9H138, Q9H1L7, Q9Y2H0
      Related
      ENSP00000341633.5, ENST00000339266.10
      Conserved Domains (1) summary
      pfam03359
      Location:660 → 992
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    3. NM_001388257.1 → NP_001375186.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    4. NM_001388260.1 → NP_001375189.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    5. NM_001388262.1 → NP_001375191.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    6. NM_001388265.1 → NP_001375194.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    7. NM_001388268.1 → NP_001375197.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    8. NM_001388271.1 → NP_001375200.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    9. NM_001388274.1 → NP_001375203.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    10. NM_001388275.1 → NP_001375204.1  disks large-associated protein 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      UniProtKB/TrEMBL
      A0A0B4J2C2
      Conserved Domains (1) summary
      pfam03359
      Location:1 → 285
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    11. NM_001388277.1 → NP_001375206.1  disks large-associated protein 4 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      Conserved Domains (1) summary
      pfam03359
      Location:17 → 298
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    12. NM_001388278.1 → NP_001375207.1  disks large-associated protein 4 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL050318, AL390374
      Conserved Domains (1) summary
      pfam03359
      Location:108 → 450
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    13. NM_014902.6 → NP_055717.2  disks large-associated protein 4 isoform a

      See identical proteins and their annotated locations for NP_055717.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB023181, AI984397, AL050318, AL120584, AL390374
      Consensus CDS
      CCDS13274.1
      UniProtKB/Swiss-Prot
      Q9Y2H0
      Related
      ENSP00000363023.3, ENST00000373913.7
      Conserved Domains (1) summary
      pfam03359
      Location:650 → 989
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    14. NM_183006.4 → NP_892118.1  disks large-associated protein 4 isoform b

      See identical proteins and their annotated locations for NP_892118.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons but contains an alternate 5' terminal exon and it thus differs in its 5' UTR and 5' coding region, and it also lacks an in-frame exon but contains a differerent in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AI984397, AL050318, BC108706, BC153874
      Consensus CDS
      CCDS13275.1
      UniProtKB/Swiss-Prot
      Q9Y2H0
      Related
      ENSP00000345700.4, ENST00000340491.8
      Conserved Domains (1) summary
      pfam03359
      Location:121 → 453
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      36306339..36528633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528689.3 → XP_011526991.1  disks large-associated protein 4 isoform X1

      Conserved Domains (1) summary
      pfam03359
      Location:660 → 920
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    2. XM_047440012.1 → XP_047295968.1  disks large-associated protein 4 isoform X3

    3. XM_047440011.1 → XP_047295967.1  disks large-associated protein 4 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      38027049..38252509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323195.1 → XP_054179170.1  disks large-associated protein 4 isoform X1

    2. XM_054323197.1 → XP_054179172.1  disks large-associated protein 4 isoform X3

    3. XM_054323196.1 → XP_054179171.1  disks large-associated protein 4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2H0.3 GenPept UniProtKB/Swiss-Prot:Q9Y2H0

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