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    DLGAP5 DLG associated protein 5 [ Homo sapiens (human) ]

    Gene ID: 9787, updated on 3-Nov-2024

    Summary

    Official Symbol
    DLGAP5provided by HGNC
    Official Full Name
    DLG associated protein 5provided by HGNC
    Primary source
    HGNC:HGNC:16864
    See related
    Ensembl:ENSG00000126787 MIM:617859; AllianceGenome:HGNC:16864
    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
    DLG7; HURP
    Summary
    Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including centrosome localization; kinetochore assembly; and mitotic spindle organization. Located in cytosol; nucleus; and spindle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 9.4), testis (RPKM 9.1) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DLGAP5 in Genome Data Viewer
    Location:
    14q22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (55148135..55191585, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (49353325..49396782, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (55614853..55658303, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8427 Neighboring gene Sharpr-MPRA regulatory region 5571 Neighboring gene galectin 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:55657493-55658046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:55658047-55658599 Neighboring gene uncharacterized LOC105370508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:55662229-55662728 Neighboring gene uncharacterized LOC107984708

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of circulating galectin-3.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0008

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding 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 centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in kinetochore assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic chromosome movement towards spindle pole NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of mitotic metaphase/anaphase transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signaling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in spindle pole centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in spindle pole centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    disks large-associated protein 5
    Names
    DAP-5
    discs large homolog associated protein 5
    discs, large homolog 7
    disks large-associated protein DLG7
    hepatoma up-regulated protein

    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.

    mRNA and Protein(s)

    1. NM_001146015.2NP_001139487.1  disks large-associated protein 5 isoform b

      See identical proteins and their annotated locations for NP_001139487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK299338, BM788630, BX248255
      Consensus CDS
      CCDS53897.1
      UniProtKB/TrEMBL
      A8K732
      Related
      ENSP00000378815.2, ENST00000395425.6
      Conserved Domains (1) summary
      pfam03359
      Location:432599
      GKAP; Guanylate-kinase-associated protein (GKAP) protein
    2. NM_014750.5NP_055565.3  disks large-associated protein 5 isoform a

      See identical proteins and their annotated locations for NP_055565.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AB076695, BC010658
      Consensus CDS
      CCDS9723.1
      UniProtKB/Swiss-Prot
      A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58
      UniProtKB/TrEMBL
      A8K732
      Related
      ENSP00000247191.2, ENST00000247191.7
      Conserved Domains (1) summary
      pfam03359
      Location:432599
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      55148135..55191585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021840.3XP_016877329.1  disks large-associated protein 5 isoform X1

      UniProtKB/Swiss-Prot
      A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58
      UniProtKB/TrEMBL
      A8K732
      Conserved Domains (1) summary
      pfam03359
      Location:432599
      GKAP; Guanylate-kinase-associated protein (GKAP) protein
    2. XM_047432016.1XP_047287972.1  disks large-associated protein 5 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      49353325..49396782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377137.1XP_054233112.1  disks large-associated protein 5 isoform X1

      UniProtKB/Swiss-Prot
      A8MTM6, B4DRM8, Q15398, Q86T11, Q8NG58
    2. XM_054377138.1XP_054233113.1  disks large-associated protein 5 isoform X2