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    NUDT8 nudix hydrolase 8 [ Homo sapiens (human) ]

    Gene ID: 254552, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUDT8provided by HGNC
    Official Full Name
    nudix hydrolase 8provided by HGNC
    Primary source
    HGNC:HGNC:8055
    See related
    Ensembl:ENSG00000167799 AllianceGenome:HGNC:8055
    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
    Summary
    Predicted to enable magnesium ion binding activity and manganese ion binding activity. Predicted to be involved in nucleoside phosphate catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 5.4), heart (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUDT8 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67627938..67629937, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67622625..67624624, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67395409..67397408, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67381921-67382434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67382435-67382950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67382951-67383466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67383983-67384496 Neighboring gene double C2 domain gamma, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:67384509-67385123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67386492-67387365 Neighboring gene uncharacterized LOC124902696 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67388663-67389245 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:67389246-67389827 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67393084-67393613 Neighboring gene Sharpr-MPRA regulatory region 370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67399437-67399966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67400495-67401024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401025-67401552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67401848-67402406 Neighboring gene T-box transcription factor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67402407-67402965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67411697-67412266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67412267-67412834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5119 Neighboring gene aminoacylase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67416073-67416595

    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. The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific for coenzyme A and its derivatives. Gasmi L, et al. Biochem J, 2001 Jul 1. PMID 11415433, Free PMC Article
    2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    5. A High-Density Human Mitochondrial Proximity Interaction Network. Antonicka H, et al. Cell Metab, 2020 Sep 1. PMID 32877691

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41567

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables coenzyme A diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in butyryl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in coenzyme A catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in malonyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in medium-chain fatty-acyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in propionyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in succinyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial coenzyme A diphosphatase NUDT8
    Names
    nucleoside diphosphate-linked moiety X motif 8, mitochondrial
    nudix (nucleoside diphosphate linked moiety X)-type motif 8
    nudix motif 8
    NP_001230679.1
    NP_862826.1

    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_001243750.2 → NP_001230679.1  mitochondrial coenzyme A diphosphatase NUDT8 isoform 1

      See identical proteins and their annotated locations for NP_001230679.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK123561, AP003385, CB140633
      Consensus CDS
      CCDS58151.1
      UniProtKB/Swiss-Prot
      Q6ZW59, Q8WV74
      Related
      ENSP00000365883.2, ENST00000376693.3
      Conserved Domains (1) summary
      cd03426
      Location:32 → 186
      CoAse; Coenzyme A pyrophosphatase (CoAse), a member of the Nudix hydrolase superfamily, functions to catalyze the elimination of oxidized inactive CoA, which can inhibit CoA-utilizing enzymes. The need of CoAses mainly arises under conditions of oxidative ...

    2. NM_181843.3 → NP_862826.1  mitochondrial coenzyme A diphosphatase NUDT8 isoform 2

      See identical proteins and their annotated locations for NP_862826.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) retains an intron in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AP003385, BC018644, CB140633
      Consensus CDS
      CCDS8174.1
      UniProtKB/Swiss-Prot
      Q8WV74
      Related
      ENSP00000301490.4, ENST00000301490.8
      Conserved Domains (1) summary
      cd03426
      Location:32 → 137
      CoAse; Coenzyme A pyrophosphatase (CoAse), a member of the Nudix hydrolase superfamily, functions to catalyze the elimination of oxidized inactive CoA, which can inhibit CoA-utilizing enzymes. The need of CoAses mainly arises under conditions of oxidative ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67627938..67629937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67622625..67624624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WV74.2 GenPept UniProtKB/Swiss-Prot:Q8WV74

    Gene LinkOut

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

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