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    DYNAP dynactin associated protein [ Homo sapiens (human) ]

    Gene ID: 284254, updated on 6-Jun-2024

    Summary

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    Official Symbol
    DYNAPprovided by HGNC
    Official Full Name
    dynactin associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:26808
    See related
    Ensembl:ENSG00000178690 MIM:619421; AllianceGenome:HGNC:26808
    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
    C18orf26
    Summary
    Involved in several processes, including activation of protein kinase B activity; cellular response to ergosterol; and positive regulation of cell population proliferation. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward esophagus (RPKM 7.4) See more
    Orthologs
    all
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    Genomic context

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    See DYNAP in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54575621..54599493)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54778729..54802601)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52254990..52266724)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr18:52054867-52055490, GRCh37_chr18:52055491-52056114 and GRCh37_chr18:52056115-52056737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:52056738-52057362 Neighboring gene DYNAP pseudogene 1 Neighboring gene DYNAP pseudogene 2 Neighboring gene DYNAP pseuodgene 3 Neighboring gene uncharacterized LOC124904308 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:52274507-52275298 Neighboring gene Sharpr-MPRA regulatory region 14135 Neighboring gene Sharpr-MPRA regulatory region 5858 Neighboring gene RAB27B, member RAS oncogene family Neighboring gene ribosomal protein SA pseudogene 57

    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
    • 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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    Related articles in PubMed

    1. A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells. Kunoh T, et al. Mol Cancer Ther, 2010 Nov. PMID 20978158
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DynAP, which promotes activation of Akt, can be a new target for cancer therapy.
      Title: A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells.
    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39106

    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 activation of protein kinase B activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of protein kinase B activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to ergosterol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynactin-associated protein

    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_001307955.1 → NP_001294884.1  dynactin-associated protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different 5' structure, initiates translation from an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AC091135
      Consensus CDS
      CCDS77190.1
      UniProtKB/TrEMBL
      K7EMN5
      Related
      ENSP00000466577.1, ENST00000585973.1
      Conserved Domains (1) summary
      pfam15675
      Location:56 → 85
      CLLAC; CLLAC-motif containing domain

    2. NM_173629.3 → NP_775900.2  dynactin-associated protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC091135
      Consensus CDS
      CCDS11957.2
      UniProtKB/Swiss-Prot
      Q8N1N2
      UniProtKB/TrEMBL
      A0A3B3IRJ4
      Related
      ENSP00000496812.1, ENST00000648945.2
      Conserved Domains (1) summary
      pfam15675
      Location:82 → 111
      CLLAC; CLLAC-motif containing domain

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      54575621..54599493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525923.4 → XP_011524225.1  dynactin-associated protein isoform X1

      See identical proteins and their annotated locations for XP_011524225.1

      UniProtKB/Swiss-Prot
      Q8N1N2
      Conserved Domains (1) summary
      pfam15675
      Location:111 → 140
      CLLAC; CLLAC-motif containing domain

    2. XM_017025709.2 → XP_016881198.1  dynactin-associated protein isoform X2

      UniProtKB/TrEMBL
      K7EMN5
      Conserved Domains (1) summary
      pfam15675
      Location:56 → 85
      CLLAC; CLLAC-motif containing domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      54778729..54802601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318534.1 → XP_054174509.1  dynactin-associated protein isoform X1

      UniProtKB/Swiss-Prot
      Q8N1N2

    2. XM_054318536.1 → XP_054174511.1  dynactin-associated protein isoform X2

      UniProtKB/TrEMBL
      K7EMN5

    3. XM_054318535.1 → XP_054174510.1  dynactin-associated protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1N2.1 GenPept UniProtKB/Swiss-Prot:Q8N1N2

    Gene LinkOut

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