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    DAP death associated protein [ Homo sapiens (human) ]

    Gene ID: 1611, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DAPprovided by HGNC
    Official Full Name
    death associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:2672
    See related
    Ensembl:ENSG00000112977 MIM:600954; AllianceGenome:HGNC:2672
    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
    DAP1
    Summary
    This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 62.5), urinary bladder (RPKM 56.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAP in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (10679230..10761234, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10617243..10698870, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10679342..10761346, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10564245-10565139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10565140-10566033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10566137-10566638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22364 Neighboring gene Sharpr-MPRA regulatory region 12583 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:10595324-10596523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10631614-10632356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10637082-10637814 Neighboring gene ankyrin repeat domain 33B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10656245-10657193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10673987-10674687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10681857-10682357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10699642-10700465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10702999-10703721 Neighboring gene intersectin 1 (SH3 domain protein) pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:10726428-10726591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10727463-10727962 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:10731599-10732098 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:10731097-10731598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22381 Neighboring gene uncharacterized CTD-2154B17.1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15930 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:10761404-10762249 Neighboring gene DAP divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:10904846-10905500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22383 Neighboring gene uncharacterized LOC105374654 Neighboring gene catenin delta 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Backbone and nearly complete side-chain chemical shift assignments of the human death-associated protein 1 (DAP1). Wiedemann C, et al. Biomol NMR Assign, 2021 Apr. PMID 33263927, Free PMC Article
    2. Effect of the knockdown of death-associated protein 1 expression on cell adhesion, growth and migration in breast cancer cells. Wazir U, et al. Oncol Rep, 2015 Mar. PMID 25530065
    3. Death associated protein 1 is correlated with the clinical outcome of patients with colorectal cancer and has a role in the regulation of cell death. Jia Y, et al. Oncol Rep, 2014 Jan. PMID 24270644
    4. The mRNA expression of DAP1 in human breast cancer: correlation with clinicopathological parameters. Wazir U, et al. Cancer Genomics Proteomics, 2012 Jul-Aug. PMID 22798505
    5. Expression of Death Associated Proteins DAP1 and DAP3 in Human Pancreatic Cancer. Sui L, et al. Anticancer Res, 2021 May. PMID 33952460

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Backbone and nearly complete side-chain chemical shift assignments of the human death-associated protein 1 (DAP1).
      Title: Backbone and nearly complete side-chain chemical shift assignments of the human death-associated protein 1 (DAP1).
    2. Expression of Death Associated Proteins DAP1 and DAP3 in Human Pancreatic Cancer.
      Title: Expression of Death Associated Proteins DAP1 and DAP3 in Human Pancreatic Cancer.
    3. DAP1 may have an important role in cell adhesion, migration and growth in the context of breast cancer and has significant associations with the apoptosis pathway.
      Title: Effect of the knockdown of death-associated protein 1 expression on cell adhesion, growth and migration in breast cancer cells.
    4. DAP1 was found to be correlated with disease progression and long-term survival of the colorectal patients. DAP1 is also a pivotal regulator of the growth and apoptosis and cellular response to chemotherapy agents.
      Title: Death associated protein 1 is correlated with the clinical outcome of patients with colorectal cancer and has a role in the regulation of cell death.
    5. This study demonstrates an inverse association between DAP1 mRNA levels and tumour stage and clinical outcome in breast cancer
      Title: The mRNA expression of DAP1 in human breast cancer: correlation with clinicopathological parameters.
    6. Mapping of the phosphorylation sites and analysis of phosphorylation mutants indicated that DAP1 is functionally silenced in growing cells through mTOR-dependent phosphorylations on Ser3 and Ser51
      Title: DAP1, a novel substrate of mTOR, negatively regulates autophagy.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99796

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables death domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome hibernation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    death-associated protein 1
    Names
    DAP-1

    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.

    Genomic

    1. NG_011546.1 RefSeqGene

      Range
      5042..87046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291963.2 → NP_001278892.1  death-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001278892.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC002726, BI823002, DC395850
      Consensus CDS
      CCDS77997.1
      UniProtKB/TrEMBL
      B4DQ75
      Related
      ENSP00000394163.2, ENST00000432074.2
      Conserved Domains (1) summary
      pfam15228
      Location:12 → 179
      DAP; Death-associated protein

    2. NM_004394.3 → NP_004385.1  death-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_004385.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the coding region, which causes a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC002726, BP265421, DC395850
      Consensus CDS
      CCDS3880.1
      UniProtKB/Swiss-Prot
      P51397, Q6FGC3, Q9BUC9
      UniProtKB/TrEMBL
      B2R4C9
      Related
      ENSP00000230895.7, ENST00000230895.11
      Conserved Domains (1) summary
      pfam15228
      Location:12 → 102
      DAP; Death-associated 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      10679230..10761234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      10617243..10698870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51397.3 GenPept UniProtKB/Swiss-Prot:P51397

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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