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DAP death associated protein [ Homo sapiens (human) ]

Gene ID: 1611, updated on 3-Nov-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
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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: 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. 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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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)

Genotypes

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
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 cellular response to amino acid starvation IDA
Inferred from Direct Assay
more info
 PubMed 
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 regulation of translation IEA
Inferred from Electronic Annotation
more info
  
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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