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    DAP3 death associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 7818, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DAP3provided by HGNC
    Official Full Name
    death associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:2673
    See related
    Ensembl:ENSG00000132676 MIM:602074; AllianceGenome:HGNC:2673
    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
    mS29; DAP-3; S29mt; MRPS29; MRP-S29; bMRP-10
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 26.0), appendix (RPKM 24.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DAP3 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155687948..155739010)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154827654..154877880)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155658882..155708801)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gon-4 like pseudogene Neighboring gene YY1 associated protein 1 Neighboring gene small Cajal body-specific RNA 26A Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155657971-155658605 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1818 Neighboring gene uncharacterized LOC124904431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1819 Neighboring gene misato family member 2, pseudogene Neighboring gene gon-4 like Neighboring gene small Cajal body-specific RNA 26B

    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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    Related articles in PubMed

    1. Isolation of DAP3, a novel mediator of interferon-gamma-induced cell death. Kissil JL, et al. J Biol Chem, 1995 Nov 17. PMID 7499268
    2. Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma. Hirota T, et al. J Hum Genet, 2004. PMID 15179560
    3. Functional role of death-associated protein 3 (DAP3) in anoikis. Miyazaki T, et al. J Biol Chem, 2004 Oct 22. PMID 15302871
    4. Identification of phosphorylation sites in mammalian mitochondrial ribosomal protein DAP3. Miller JL, et al. Protein Sci, 2008 Feb. PMID 18227431, Free PMC Article
    5. Death-associated protein 3 is overexpressed in human thyroid oncocytic tumours. Jacques C, et al. Br J Cancer, 2009 Jul 7. PMID 19536094, Free PMC Article

    See all (166) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DAP3 promotes mitochondrial activity and tumour progression in hepatocellular carcinoma by regulating MT-ND5 expression.
      Title: DAP3 promotes mitochondrial activity and tumour progression in hepatocellular carcinoma by regulating MT-ND5 expression.
    2. Death associated protein3 (DAP3) and DAP3 binding cell death enhancer1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance.
      Title: Death associated protein‑3 (DAP3) and DAP3 binding cell death enhancer‑1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance.
    3. Suppression of adenosine-to-inosine (A-to-I) RNA editome by death associated protein 3 (DAP3) promotes cancer progression.
      Title: Suppression of adenosine-to-inosine (A-to-I) RNA editome by death associated protein 3 (DAP3) promotes cancer progression.
    4. 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.
    5. The present findings indicate that DAP3 deficiency-induced chemoresistance in gastric cancer is at least partially mediated through the beta-catenin/LGR5/Bcl-2 axis.
      Title: Depletion of death-associated protein-3 induces chemoresistance in gastric cancer cells through the β-catenin/LGR5/Bcl-2 axis.
    6. DAP3 plays important roles in mitochondrial function and dynamics
      Title: Death-associated Protein 3 Regulates Mitochondrial-encoded Protein Synthesis and Mitochondrial Dynamics.
    7. DAP3 silencing contributes to breast carcinogenesis.
      Title: Effects of the knockdown of death-associated protein 3 expression on cell adhesion, growth and migration in breast cancer cells.
    8. Knockdown of DAP3 expression promoted cell migration.
      Title: Death-associated protein-3, DAP-3, correlates with preoperative chemotherapy effectiveness and prognosis of gastric cancer patients following perioperative chemotherapy and radical gastrectomy.
    9. Study demonstrates an inverse association between DAP3 mRNA levels and tumour stage and clinical outcome in breast cancer.
      Title: The mRNA expression of DAP3 in human breast cancer: correlation with clinicopathological parameters.
    10. identified a novel DAP3-binding protein termed death ligand signal enhancer (DELE); results demonstrated the biological significance of DELE for apoptosis signal mediated by death receptors
      Title: Identification of DELE, a novel DAP3-binding protein which is crucial for death receptor-mediated apoptosis induction.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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 death associated protein 3 (DAP3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12817, MGC126058, MGC126059, DKFZp686G12159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein mS29
    Names
    28S ribosomal protein S29, mitochondrial
    ionizing radiation resistance conferring protein
    mitochondrial 28S ribosomal protein S29
    mitochondrial small ribosomal subunit protein mS29

    NCBI Reference Sequences (RefSeq)

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    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_001199849.1 → NP_001186778.1  small ribosomal subunit protein mS29 isoform 1

      See identical proteins and their annotated locations for NP_001186778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon in the 5' UTR, as compared to variant 2. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AK225869, AK302281, AL162734, BC107487, BQ183744
      Consensus CDS
      CCDS1120.1
      UniProtKB/Swiss-Prot
      B4DP59, B4DY62, E7EM60, P51398, Q13044, Q68CT7, Q96Q20
      Conserved Domains (1) summary
      pfam10236
      Location:99 → 393
      DAP3; Mitochondrial ribosomal death-associated protein 3

    2. NM_001199850.1 → NP_001186779.1  small ribosomal subunit protein mS29 isoform 2

      See identical proteins and their annotated locations for NP_001186779.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the CDS, as compared to variant 2. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK298201, AK302281, AL162734, BQ183744
      Consensus CDS
      CCDS55646.1
      UniProtKB/Swiss-Prot
      P51398
      Related
      ENSP00000412605.2, ENST00000421487.6
      Conserved Domains (1) summary
      pfam10236
      Location:65 → 359
      DAP3; Mitochondrial ribosomal death-associated protein 3

    3. NM_001199851.1 → NP_001186780.1  small ribosomal subunit protein mS29 isoform 3

      See identical proteins and their annotated locations for NP_001186780.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the CDS, as compared to variant 2. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK298201, AK302281, AL162734, BQ183744
      Consensus CDS
      CCDS55647.1
      UniProtKB/Swiss-Prot
      P51398
      Related
      ENSP00000445003.1, ENST00000535183.5
      Conserved Domains (1) summary
      pfam10236
      Location:58 → 352
      DAP3; Mitochondrial ribosomal death-associated protein 3

    4. NM_004632.4 → NP_004623.1  small ribosomal subunit protein mS29 isoform 1

      See identical proteins and their annotated locations for NP_004623.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (1). Variants 1, 2 and 3 encode the same isoform 1.
      Source sequence(s)
      AL162734, BC107487, BQ183744
      Consensus CDS
      CCDS1120.1
      UniProtKB/Swiss-Prot
      B4DP59, B4DY62, E7EM60, P51398, Q13044, Q68CT7, Q96Q20
      Related
      ENSP00000357320.5, ENST00000368336.10
      Conserved Domains (1) summary
      pfam10236
      Location:99 → 393
      DAP3; Mitochondrial ribosomal death-associated protein 3

    5. NM_033657.2 → NP_387506.1  small ribosomal subunit protein mS29 isoform 1

      See identical proteins and their annotated locations for NP_387506.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an additional segment in the 5' UTR, as compared to variant 2. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL162734, BC107488, BQ183744
      Consensus CDS
      CCDS1120.1
      UniProtKB/Swiss-Prot
      B4DP59, B4DY62, E7EM60, P51398, Q13044, Q68CT7, Q96Q20
      Related
      ENSP00000341692.3, ENST00000343043.7
      Conserved Domains (1) summary
      pfam10236
      Location:99 → 393
      DAP3; Mitochondrial ribosomal death-associated protein 3

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155687948..155739010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430081.1 → XP_047286037.1  small ribosomal subunit protein mS29 isoform X1

      UniProtKB/Swiss-Prot
      B4DP59, B4DY62, E7EM60, P51398, Q13044, Q68CT7, Q96Q20

    2. XM_047430085.1 → XP_047286041.1  small ribosomal subunit protein mS29 isoform X2

    3. XM_047430090.1 → XP_047286046.1  small ribosomal subunit protein mS29 isoform X3

    4. XM_047430096.1 → XP_047286052.1  small ribosomal subunit protein mS29 isoform X5

    5. XM_047430092.1 → XP_047286048.1  small ribosomal subunit protein mS29 isoform X4

    6. XM_024449700.2 → XP_024305468.1  small ribosomal subunit protein mS29 isoform X6

      Conserved Domains (1) summary
      pfam10236
      Location:58 → 325
      DAP3; Mitochondrial ribosomal death-associated protein 3

    7. XM_047430087.1 → XP_047286043.1  small ribosomal subunit protein mS29 isoform X2

    8. XM_047430093.1 → XP_047286049.1  small ribosomal subunit protein mS29 isoform X4

    9. XM_024449697.2 → XP_024305465.1  small ribosomal subunit protein mS29 isoform X1

      UniProtKB/Swiss-Prot
      B4DP59, B4DY62, E7EM60, P51398, Q13044, Q68CT7, Q96Q20
      Conserved Domains (1) summary
      pfam10236
      Location:99 → 393
      DAP3; Mitochondrial ribosomal death-associated protein 3

    10. XM_024449698.2 → XP_024305466.1  small ribosomal subunit protein mS29 isoform X2

      Conserved Domains (1) summary
      pfam10236
      Location:99 → 366
      DAP3; Mitochondrial ribosomal death-associated protein 3

    11. XM_017002294.2 → XP_016857783.1  small ribosomal subunit protein mS29 isoform X5

    12. XM_017002292.2 → XP_016857781.1  small ribosomal subunit protein mS29 isoform X4

      UniProtKB/Swiss-Prot
      P51398
      Related
      ENSP00000476592.1, ENST00000471642.6
      Conserved Domains (1) summary
      pfam10236
      Location:58 → 352
      DAP3; Mitochondrial ribosomal death-associated protein 3

    13. XM_017002295.2 → XP_016857784.1  small ribosomal subunit protein mS29 isoform X6

      Conserved Domains (1) summary
      pfam10236
      Location:58 → 325
      DAP3; Mitochondrial ribosomal death-associated protein 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154827654..154877880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338661.1 → XP_054194636.1  small ribosomal subunit protein mS29 isoform X2

    2. XM_054338665.1 → XP_054194640.1  small ribosomal subunit protein mS29 isoform X5

    3. XM_054338667.1 → XP_054194642.1  small ribosomal subunit protein mS29 isoform X6

    4. XM_054338662.1 → XP_054194637.1  small ribosomal subunit protein mS29 isoform X2

    5. XM_054338663.1 → XP_054194638.1  small ribosomal subunit protein mS29 isoform X3

    6. XM_054338666.1 → XP_054194641.1  small ribosomal subunit protein mS29 isoform X5

    7. XM_054338664.1 → XP_054194639.1  small ribosomal subunit protein mS29 isoform X4

    8. XM_054338668.1 → XP_054194643.1  small ribosomal subunit protein mS29 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51398.1 GenPept UniProtKB/Swiss-Prot:P51398

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