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    PARP8 poly(ADP-ribose) polymerase family member 8 [ Homo sapiens (human) ]

    Gene ID: 79668, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PARP8provided by HGNC
    Official Full Name
    poly(ADP-ribose) polymerase family member 8provided by HGNC
    Primary source
    HGNC:HGNC:26124
    See related
    Ensembl:ENSG00000151883 AllianceGenome:HGNC:26124
    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
    ARTD16; pART16
    Summary
    Enables NAD+-protein ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Predicted to be active in endoplasmic reticulum tubular network and nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 11.4), thyroid (RPKM 9.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PARP8 in Genome Data Viewer
    Location:
    5q11.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (50665931..50846519)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (51485094..51665708)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (49961765..50142353)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15999 Neighboring gene embigin Neighboring gene peptidylprolyl isomerase A like 4G pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16001 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:49963094-49964293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:50218379-50218890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:50258938-50259475 Neighboring gene uncharacterized LOC124901181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:50265501-50266022 Neighboring gene long intergenic non-protein coding RNA 2106

    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. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. Fan Q, et al. PLoS Genet, 2012. PMID 22685421, Free PMC Article
    2. Genetics of callous-unemotional behavior in children. Viding E, et al. PLoS One, 2013. PMID 23874384, Free PMC Article
    3. The PARP superfamily. Amé JC, et al. Bioessays, 2004 Aug. PMID 15273990
    4. Family-wide analysis of poly(ADP-ribose) polymerase activity. Vyas S, et al. Nat Commun, 2014 Jul 21. PMID 25043379, Free PMC Article
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. Couzens AL, et al. Sci Signal, 2013 Nov 19. PMID 24255178

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.
    EBI GWAS Catalog
    Genetics of callous-unemotional behavior in children.
    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)

    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

    • FLJ21308, MGC42864

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+-protein ADP-ribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+-protein poly-ADP-ribosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NAD+-protein-cysteine ADP-ribosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein auto-ADP-ribosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum tubular network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein mono-ADP-ribosyltransferase PARP8
    Names
    ADP-ribosyltransferase diphtheria toxin-like 16
    NP_001171526.1
    NP_001171527.1
    NP_001317957.1
    NP_001413984.1
    NP_078891.2
    XP_011541933.1
    XP_011541934.3
    XP_011541935.3
    XP_011541936.1
    XP_011541945.1
    XP_047273661.1
    XP_047273662.1
    XP_047273663.1
    XP_047273664.1
    XP_054209424.1
    XP_054209425.1
    XP_054209426.1
    XP_054209427.1
    XP_054209428.1
    XP_054209429.1
    XP_054209430.1
    XP_054209431.1
    XP_054209432.1

    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.

    mRNA and Protein(s)

    1. NM_001178055.2 → NP_001171526.1  protein mono-ADP-ribosyltransferase PARP8 isoform 1

      See identical proteins and their annotated locations for NP_001171526.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC022441, AK314466, AL834477, DC429180
      Consensus CDS
      CCDS3954.1
      UniProtKB/Swiss-Prot
      Q3KRB7, Q6DHZ1, Q8N3A8, Q9H754
      UniProtKB/TrEMBL
      A8K004
      Related
      ENSP00000422217.2, ENST00000505697.6
      Conserved Domains (1) summary
      cd01341
      Location:694 → 818
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    2. NM_001178056.2 → NP_001171527.1  protein mono-ADP-ribosyltransferase PARP8 isoform 2

      See identical proteins and their annotated locations for NP_001171527.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC022441, AC112187, BC075801, DC417471, DC429180
      Consensus CDS
      CCDS54849.1
      UniProtKB/TrEMBL
      A8K004, B2RB27
      Related
      ENSP00000424814.2, ENST00000514067.6
      Conserved Domains (2) summary
      cd01341
      Location:652 → 776
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...
      cl00283
      Location:482 → 563
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    3. NM_001331028.2 → NP_001317957.1  protein mono-ADP-ribosyltransferase PARP8 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-terminal exon and an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC008919, AC022441, AC112187
      Consensus CDS
      CCDS82996.1
      UniProtKB/TrEMBL
      A8K004, E9PFI7
      Related
      ENSP00000423946.1, ENST00000505554.5

    4. NM_001427055.1 → NP_001413984.1  protein mono-ADP-ribosyltransferase PARP8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008919, AC022441, AC112187

    5. NM_024615.4 → NP_078891.2  protein mono-ADP-ribosyltransferase PARP8 isoform 1

      See identical proteins and their annotated locations for NP_078891.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC022441, AC112187, AL834477, DC417471, DC429180
      Consensus CDS
      CCDS3954.1
      UniProtKB/Swiss-Prot
      Q3KRB7, Q6DHZ1, Q8N3A8, Q9H754
      UniProtKB/TrEMBL
      A8K004
      Related
      ENSP00000281631.4, ENST00000281631.10
      Conserved Domains (1) summary
      cd01341
      Location:694 → 818
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    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
      50665931..50846519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417705.1 → XP_047273661.1  protein mono-ADP-ribosyltransferase PARP8 isoform X5

    2. XM_011543631.4 → XP_011541933.1  protein mono-ADP-ribosyltransferase PARP8 isoform X2

      See identical proteins and their annotated locations for XP_011541933.1

      UniProtKB/Swiss-Prot
      Q3KRB7, Q6DHZ1, Q8N3A8, Q9H754
      UniProtKB/TrEMBL
      A8K004
      Conserved Domains (1) summary
      cd01341
      Location:694 → 818
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    3. XM_011543634.3 → XP_011541936.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

      See identical proteins and their annotated locations for XP_011541936.1

      UniProtKB/TrEMBL
      A8K004
      Conserved Domains (1) summary
      cd01341
      Location:634 → 758
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    4. XM_011543643.3 → XP_011541945.1  protein mono-ADP-ribosyltransferase PARP8 isoform X8

      See identical proteins and their annotated locations for XP_011541945.1

      UniProtKB/TrEMBL
      B4DQ81
      Conserved Domains (1) summary
      cd01341
      Location:500 → 624
      ADP_ribosyl; ADP_ribosylating enzymes catalyze the transfer of ADP_ribose from NAD+ to substrates. Bacterial toxins are cytoplasmic and catalyze the transfer of a single ADP_ribose unit to eukaryotic elongation factor 2, halting protein synthesis and killing the cell. ...

    5. XM_011543632.4 → XP_011541934.3  protein mono-ADP-ribosyltransferase PARP8 isoform X3

    6. XM_011543633.4 → XP_011541935.3  protein mono-ADP-ribosyltransferase PARP8 isoform X4

    7. XM_047417707.1 → XP_047273663.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

    8. XM_047417708.1 → XP_047273664.1  protein mono-ADP-ribosyltransferase PARP8 isoform X7

    9. XM_047417706.1 → XP_047273662.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      51485094..51665708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353452.1 → XP_054209427.1  protein mono-ADP-ribosyltransferase PARP8 isoform X5

    2. XM_054353449.1 → XP_054209424.1  protein mono-ADP-ribosyltransferase PARP8 isoform X2

      UniProtKB/Swiss-Prot
      Q3KRB7, Q6DHZ1, Q8N3A8, Q9H754

    3. XM_054353450.1 → XP_054209425.1  protein mono-ADP-ribosyltransferase PARP8 isoform X3

    4. XM_054353451.1 → XP_054209426.1  protein mono-ADP-ribosyltransferase PARP8 isoform X4

    5. XM_054353453.1 → XP_054209428.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

    6. XM_054353457.1 → XP_054209432.1  protein mono-ADP-ribosyltransferase PARP8 isoform X8

    7. XM_054353455.1 → XP_054209430.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

    8. XM_054353456.1 → XP_054209431.1  protein mono-ADP-ribosyltransferase PARP8 isoform X7

    9. XM_054353454.1 → XP_054209429.1  protein mono-ADP-ribosyltransferase PARP8 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3A8.1 GenPept UniProtKB/Swiss-Prot:Q8N3A8

    Gene LinkOut

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