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    NUDT22 nudix hydrolase 22 [ Homo sapiens (human) ]

    Gene ID: 84304, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NUDT22provided by HGNC
    Official Full Name
    nudix hydrolase 22provided by HGNC
    Primary source
    HGNC:HGNC:28189
    See related
    Ensembl:ENSG00000149761 AllianceGenome:HGNC:28189
    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
    Enables UDP-sugar diphosphatase activity and metal ion binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 16.3), spleen (RPKM 14.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUDT22 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64226258..64230269)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64216204..64220214)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63993746..63997488)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3462 Neighboring gene stress induced phosphoprotein 1 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:63972802-63973364 and GRCh37_chr11:63973365-63973927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4888 Neighboring gene FERM domain containing kindlin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63992564-63993286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63993887-63994406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:63994407-63994924 Neighboring gene uncharacterized LOC124902687 Neighboring gene tRNA phosphotransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3467 Neighboring gene DnaJ heat shock protein family (Hsp40) member C4 Neighboring gene vascular endothelial growth factor B

    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. NUDT22 promotes cancer growth through pyrimidine salvage. Walter M, et al. Oncogene, 2023 Apr. PMID 36871087, Free PMC Article
    2. Human NUDT22 Is a UDP-Glucose/Galactose Hydrolase Exhibiting a Unique Structural Fold. Carter M, et al. Structure, 2018 Feb 6. PMID 29413322
    3. Genome-wide association study of the child behavior checklist dysregulation profile. Mick E, et al. J Am Acad Child Adolesc Psychiatry, 2011 Aug. PMID 21784300, Free PMC Article
    4. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NUDT22 promotes cancer growth through pyrimidine salvage.
      Title: NUDT22 promotes cancer growth through pyrimidine salvage.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. 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 the child behavior checklist dysregulation profile.
    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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    Homology

    Clone Names

    • MGC13045

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-mannose hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-sugar diphosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uridine diphosphate glucose pyrophosphatase NUDT22
    Names
    UDPG pyrophosphatase
    UGPPase
    nucleoside diphosphate-linked moiety X motif 22
    nudix (nucleoside diphosphate linked moiety X)-type motif 22
    nudix motif 22
    NP_001122084.2
    NP_001122085.2
    NP_001258760.2
    NP_115720.2
    XP_047283655.1
    XP_047283656.1
    XP_047283657.1
    XP_047283658.1
    XP_047283659.1
    XP_047283660.1
    XP_047283661.1
    XP_047283663.1
    XP_054226150.1
    XP_054226151.1
    XP_054226152.1
    XP_054226153.1
    XP_054226154.1
    XP_054226155.1

    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_001128612.3 → NP_001122084.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AP001453, AP006334
      Consensus CDS
      CCDS8061.1
      UniProtKB/Swiss-Prot
      C9JY06, Q71RD5, Q9BRQ3
      UniProtKB/TrEMBL
      J3KQJ3

    2. NM_001128613.3 → NP_001122085.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AP001453, AP006334
      Consensus CDS
      CCDS44640.1
      Related
      ENSP00000407970.2, ENST00000441250.6

    3. NM_001271831.2 → NP_001258760.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
      Source sequence(s)
      AP001453, AP006334
      Consensus CDS
      CCDS44640.1

    4. NM_032344.4 → NP_115720.2  uridine diphosphate glucose pyrophosphatase NUDT22 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AP001453, AP006334
      Consensus CDS
      CCDS8061.1
      UniProtKB/Swiss-Prot
      C9JY06, Q71RD5, Q9BRQ3
      UniProtKB/TrEMBL
      J3KQJ3
      Related
      ENSP00000279206.3, ENST00000279206.8

    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
      64226258..64230269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427707.1 → XP_047283663.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X7

      UniProtKB/TrEMBL
      J3KQJ3

    2. XM_047427700.1 → XP_047283656.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X2

      UniProtKB/TrEMBL
      J3KQJ3
      Related
      ENSP00000401085.2, ENST00000428347.2

    3. XM_047427702.1 → XP_047283658.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X3

      UniProtKB/TrEMBL
      J3KQJ3

    4. XM_047427704.1 → XP_047283660.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X5

      UniProtKB/TrEMBL
      J3KQJ3

    5. XM_047427701.1 → XP_047283657.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X2

      UniProtKB/TrEMBL
      J3KQJ3

    6. XM_047427703.1 → XP_047283659.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X4

      UniProtKB/Swiss-Prot
      C9JY06, Q71RD5, Q9BRQ3
      UniProtKB/TrEMBL
      J3KQJ3

    7. XM_047427705.1 → XP_047283661.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X6

    8. XM_047427699.1 → XP_047283655.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X1

      UniProtKB/TrEMBL
      J3KQJ3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64216204..64220214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370180.1 → XP_054226155.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X7

      UniProtKB/TrEMBL
      J3KQJ3

    2. XM_054370176.1 → XP_054226151.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X2

      UniProtKB/TrEMBL
      J3KQJ3

    3. XM_054370178.1 → XP_054226153.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X3

      UniProtKB/TrEMBL
      J3KQJ3

    4. XM_054370179.1 → XP_054226154.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X5

      UniProtKB/TrEMBL
      J3KQJ3

    5. XM_054370175.1 → XP_054226150.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X1

      UniProtKB/TrEMBL
      J3KQJ3

    6. XM_054370177.1 → XP_054226152.1  uridine diphosphate glucose pyrophosphatase NUDT22 isoform X2

      UniProtKB/TrEMBL
      J3KQJ3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRQ3.3 GenPept UniProtKB/Swiss-Prot:Q9BRQ3

    Gene LinkOut

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